Ataxia Ppts and 600 publications

Ataxia is a lack of muscle coordination which may affect speech, eye movements, the ability to swallow, walking, picking up objects and other voluntary movements.  Ataxia is a non-specific clinical manifestation implying dysfunction of the parts of the nervous system that coordinate movement, such as the cerebellum. Several possible causes exist for these patterns of neurological dysfunction.

Ataxia
http://www.medschool.lsuhsc.edu

Friedrich Ataxia
By Evelyn Hale
http://academic.regis.edu

Exercise Therapy In Neuromuscular Disease
Maryam Tahmasbi Sohi, MD
http://www.kumc.edu

Ataxia and Dizziness
Jesse Sturm, MD
http://www.pediatrics.emory.edu

Toxic Injury of the CNS
Bennet I. Omalu, MD
http://neuro.pathology.pitt.edu

Genetics
http://www.faculty.rcc.edu

Claude’s Syndrome
http://novel.utah.edu

Movement Disorders General Overview
http://plaza.ufl.edu

Diagnosis of Acute Ischemic and Hemorrhagic Stroke
http://www.mcs.utulsa.edu

Human Communication Disorders
http://www.d.umn.edu/

Drug Addiction 
Karen Revere, Kian Eftekhari, Will Hiesinger
http://www.med.upenn.edu

Radiosensitivity in Ataxia Telangiectasia
Ling Li
http://www.uiowa.edu

Ataxia Telangiectasia
http://courses.bio.unc.edu

Ataxia- Telangiectasia and ATM
Kenji Leonard
http://courses.bio.unc.edu

Positional Cloning of Spinocerebellar Ataxia
http://www.bellarmine.edu

Ataxia in the Stroke Patient
Kelli Kulpa BSN, RN
http://faculty.alverno.edu 

600 Published articles of Ataxia

‘Costa da Morte’ ataxia is spinocerebellar ataxia 36: clinical and genetic characterization

¹H MR Spectroscopy in Friedreich's Ataxia and Ataxia with Oculomotor Apraxia Type 2

4-Aminopyridine Does Not Enhance Flocculus Function in Tottering, a Mouse Model of Vestibulocerebellar Dysfunction and Ataxia

542Descriptive Analysis of the Immunological Behavior of Patients with Ataxia Telangiectasia Attended in the National Institute of Pediatrics in the Past 30 Years

543Alteration of Humoral and Cellular Immunity in Patients with Ataxia-Telangiectasia at Reference Center in Sao Paulo, Brazil

544Clinical Features of Patients with Ataxia-Telangiectasia at Reference Center in Sao Paulo, Brazil

A 70-year-old male with peripheral neuropathy, ataxia and antigliadin antibodies shows improvement in neuropathy, but not ataxia, after intravenous immunoglobulin and gluten-free diet

A Case of Friedreich's Ataxia

A case of intermittent ataxia associated with migraine headaches

A case of Spinocerebellar Ataxia from ethnic tribe of Assam

A case of Vaso-motor Ataxia with eye symptoms simulating Monocular Exophthalmic-goitre

A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design

A dominant mutation in Snap25 causes impaired vesicle trafficking, sensorimotor gating, and ataxia in the blind-drunk mouse

A duplication at chromosome 11q12.2–11q12.3 is associated with spinocerebellar ataxia type 20

A GENE EXPRESSION PHENOTYPE IN LYMPHOCYTES FROM FRIEDREICH’S ATAXIA PATIENTS

A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

A Mutation in the Golgi Qb-SNARE Gene GOSR2 Causes Progressive Myoclonus Epilepsy with Early Ataxia

A NEW FAMILY GROUP OF HEREDITARY AND SPASTIC ATAXIA—ITS DISTRIBUTION IN CALIFORNIA: PRELIMINARY REPORT

A New Kv1.2 Channelopathy Underlying Cerebellar Ataxia

A new Purkinje cell antibody (anti-Ca) associated with subacute cerebellar ataxia: immunological characterization

A Note on the Treatment of Locomotor Ataxia by Precise Nerve-Vibration

A novel amyloidogenic transthyretin variant, Gly53Ala, associated with intermittent headaches and ataxia

A novel ataxia-telangiectasia mutated autoregulatory feedback mechanism in murine embryonic stem cells

A novel c.5308_5311delGAGA mutation in Senataxin in a Cypriot family with an autosomal recessive cerebellar ataxia

A Novel Mutation in the Aprataxin (APTX) Gene in an Iranian Individual Suffering Early-Onset Ataxia with Oculomotor Apraxia Type 1(AOA1) Disease

A novel mutation in the mitochondrial tRNA^Pro gene associated with late-onset ataxia, retinitis pigmentosa, deafness, leukoencephalopathy and complex I deficiency

A novel sacsin mutation in a Japanese woman showing clinical uniformity of autosomal recessive spastic ataxia of Charlevoix‐Saguenay

A PATIENT WITH EPISODIC ATAXIA AND PARAMYOTONIA CONGENITA DUE TO MUTATIONS IN KCNA1 AND SCN4A

A Patient with Fragile X-Associated Tremor/Ataxia Syndrome Presenting with Executive Cognitive Deficits and Cerebral White Matter Lesions

A persistent RNA·DNA hybrid formed by transcription of the Friedreich ataxia triplet repeat in live bacteria, and by T7 RNAP in vitro

A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice

A Quantitative Assessment of Tremor and Ataxia in Female FMR1 Premutation Carriers Using CATSYS

A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia

A rare midbrain infarction presenting with plus-minus lid syndrome with ataxia: a case report

A rare syndrome of central diabetes insipidus with spastic cerebellar ataxia

A Role for Vascular Deficiency in Retinal Pathology in a Mouse Model of Ataxia-Telangiectasia

A SEL1L Mutation Links a Canine Progressive Early-Onset Cerebellar Ataxia to the Endoplasmic Reticulum–Associated Protein Degradation (ERAD) Machinery

A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia

A TAT–Frataxin fusion protein increases lifespan and cardiac function in a conditional Friedreich's ataxia mouse model

A voxel-based morphometry study of grey matter loss in fragile X-associated tremor/ataxia syndrome

A woman with progressive ataxia and hemiparesis on the right side: Where's the lesion?

Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis

Aberrant CD8⁺ T-Cell Responses and Memory Differentiation upon Viral Infection of an Ataxia-Telangiectasia Mouse Model Driven by Hyper-Activated Akt and mTORC1 Signaling

Aberrant Splicing of the Senataxin Gene in a Patient with Ataxia with Oculomotor Apraxia Type 2

Abnormal N400 word repetition effects in fragile X-associated tremor/ataxia syndrome

Absence of SCA1 mutation in idiopathic cerebellar ataxia.

Acetazolamide-responsive hereditary paroxysmal ataxia: report of a family.

Acute Ataxia

Acute Ataxia

Acute ataxia complicating Langherans cell histiocytosis

Acute cerebellar ataxia and infectious mononucleosis.

Acute cerebellar ataxia associated with the isolation of coxsackievirus type A9.

Acute Cerebellar Ataxia in an Adult

Acute cerebellar ataxia with human parvovirus B19 infection

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q₁₀ Deficiency

Aggravation of ataxia due to acetazolamide induced hyperammonaemia in episodic ataxia

Allele distribution of a highly polymorphic repeat on chromosome 12 in patients with symptoms of chorea and ataxia.

Altered Gene Expression and DNA Damage in Peripheral Blood Cells from Friedreich's Ataxia Patients: Cellular Model of Pathology

Altered Kv3.3 channel gating in early-onset spinocerebellar ataxia type 13

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome

AMACR mutations cause late-onset autosomal recessive cerebellar ataxia

An ataxia-telangiectasia-mutated (ATM) kinase mediated response to DNA damage down-regulates the mRNA-binding potential of THOC5

An fMRI Study of the Prefrontal Activity during the Performance of a Working Memory Task in Premutation Carriers of the Fragile X Mental Retardation 1 Gene With and Without Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)

An unusual cause of adult onset cerebellar ataxia with hypogonadism

Anæmic Necrosis in the Walls of the Left Ventricle, Above the Apex of the Heart, Associated with Angina Pectoris and Locomotor Ataxia; with Autopsy

Anaesthesia for a patient with Friedreich's ataxia

Analysis of an insertion mutation in a cohort of 94 patients with spinocerebellar ataxia type 31 from Nagano, Japan

Analysis of autosomal dominant spinocerebellar ataxia type 1 in an extended family of central India

Analysis of Mutations That Dissociate G₂ and Essential S Phase Functions of Human Ataxia Telangiectasia-mutated and Rad3-related (ATR) Protein Kinase

Ancestral Origin of the ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10 (SCA10)

Anti Transglutaminase Antibodies Cause Ataxia in Mice

Anti-Ca²⁺ channel antibody attenuates Ca²⁺ currents and mimics cerebellar ataxia in vivo

Anti-Glutamic Acid Decarboxylase Antibody-Associated Ataxia as an Extrahepatic Autoimmune Manifestation of Hepatitis C Infection: A Case Report

Antioxidant use in Friedreich ataxia

Aqueous Extract of Paeonia lactiflora and Paeoniflorin as Aggregation Reducers Targeting Chaperones in Cell Models of Spinocerebellar Ataxia 3

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

Assessment of patient and caregiver needs in fragile X-associated tremor/ataxia syndrome (FXTAS) by utilizing Q-sort methodology

Association of Ataxia Telangiectasia Mutated (ATM) Gene Mutation/Deletion with Rhabdomyosarcoma – retraction

Ataxia and Encephalitis in a Young Adult with EBV Mononucleosis: A Case Report

Ataxia and myxoedema.

Ataxia and vision loss: flow cytometric diagnosis of primary central nervous system lymphoma

Ataxia associated with an interhemispheric subdural hematoma: a case report

Ataxia of Cerebellar Type following Diphtheria

Ataxia Telangiectasia

Ataxia telangiectasia mutated (Atm) and DNA-PKcs kinases have overlapping activities during chromosomal signal joint formation

Ataxia Telangiectasia Mutated (ATM) Inhibition Transforms Human Mammary Gland Epithelial Cells

Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells

Ataxia Telangiectasia Mutated (ATM)-mediated DNA Damage Response in Oxidative Stress-induced Vascular Endothelial Cell Senescence

Ataxia telangiectasia mutated activation by transcription- and topoisomerase I-induced DNA double-strand breaks

Ataxia Telangiectasia Mutated and Rad3 Related (ATR) Protein Kinase Inhibition Is Synthetically Lethal in XRCC1 Deficient Ovarian Cancer Cells

Ataxia telangiectasia mutated influences cytochrome c oxidase activity

Ataxia Telangiectasia Mutated Kinase Controls Chronic Gammaherpesvirus Infection

Ataxia telangiectasia mutated kinase plays a protective role in β-adrenergic receptor-stimulated cardiac myocyte apoptosis and myocardial remodeling

Ataxia telangiectasia.

Ataxia telangiectasia: A report of two cousins and review of literature

Ataxia telangiectasia: Family management

Ataxia Telangiectasia: Genetics, Neuropathology, and Immunology of a Degenerative Disease of Childhood

Ataxia Telangiectasia-Mutated (ATM) Kinase Activity Is Regulated by ATP-driven Conformational Changes in the Mre11/Rad50/Nbs1 (MRN) Complex

Ataxia Telangiectasia-Mutated Damage-Signaling Kinase- and Proteasome-Dependent Destruction of Mre11-Rad50-Nbs1 Subunits in Simian Virus 40-Infected Primate Cells

Ataxia telangiectasia-mutated protein and DNA-dependent protein kinase have complementary V(D)J recombination functions

Ataxia telangiectasia-mutated-Rad3-related DNA damage checkpoint signaling pathway triggered by hepatitis B virus infection

Ataxia with loss of Purkinje cells in a mouse model for Refsum disease

Ataxia, hyperpnoea and mental retardation: was it the molar tooth?

Ataxia, hypoacusis, and dementia

Ataxia, Ophthalmoplegia, and Areflexia: What Would You Think?

Ataxia-telangiectasia

Ataxia-Telangiectasia

Ataxia-Telangiectasia Group D Complementing Gene (ATDC) Promotes Lung Cancer Cell Proliferation by Activating NF-κB Pathway

Ataxia-telangiectasia mutated kinase regulates ribonucleotide reductase and mitochondrial homeostasis

Ataxia-Telangiectasia, Mutated (ATM)/Nuclear Factor κ Light Chain Enhancer of Activated B Cells (NFκB) Signaling Controls Basal and DNA Damage-induced Transglutaminase 2 Expression

Ataxia-Telangiectasia. A Cellular and Molecular Link Between Cancer, Neuropathology, and Immune Deficiency

Ataxia-Telangiectasia: A Cellular and Molecular Link Between Cancer, Neuropathology, and Immune Deficiency

Ataxia-telangiectasia: Genetics, neuropathology, and immunology of a degenerative disease of childhood

Ataxic hemiparesis with bilateral leg ataxia from pontine infarct.

Attenuation of the stimulant response to ethanol is associated with enhanced ataxia for a GABA_A, but not a GABA_B, receptor agonist

Autophagy induction reduces mutant ataxin-3 levels and toxicity in a mouse model of spinocerebellar ataxia type 3

Autosomal dominant cerebellar ataxia type I: A review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Autosomal dominant cerebellar ataxia with deafness, myoclonus and amyotrophy.

Autosomal dominant hereditary ataxia in Sri Lanka

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

Axonal inclusions in spinocerebellar ataxia type 3

Bilateral crossed optic ataxia in a corpus callosum lesion.

Bilateral medial medullary infarction manifested as sensory ataxia: a case report and review of the literature.

Bilateral ptosis, ataxia and areflexia--a variant of Fisher's syndrome.

Biochemical vitamin deficiencies in Friedreich's ataxia.

Bioenergetics Reprogrammed in a Cellular Model of Friedreich's Ataxia: Frataxin Deficiency Affects Formation of Respiratory Supercomplexes and Down-regulates Both OXPHOS and Glycolysis

Burden of Friedreich’s Ataxia to the Patients and Healthcare Systems in the United States and Canada

CA8 Mutations Cause a Novel Syndrome Characterized by Ataxia and Mild Mental Retardation with Predisposition to Quadrupedal Gait

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

CAG Repeats Determine Brain Atrophy in Spinocerebellar Ataxia 17: A VBM Study

CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592

Candidate Screening of the TRPC3 Gene in Cerebellar Ataxia

Cardiac involvement in Friedreich's ataxia.

Cardiomyopathy of Friedreich’s Ataxia: Use of Mouse Models to Understand Human Disease and Guide Therapeutic Development

Case for Diagnosis: Slowly on-coming Cerebellar Ataxia, with Facies resembling that of Myasthenia Gravis

Case of Ataxia in a Child

Case of Early Friedreich's Ataxia (Shown for Comparison with the Case of Juvenile Tabes Dorsalis

Case of Friedreich's Ataxia

Case of Friedreich's Ataxia associated with Coloboma of Iris and Choroid

Case of Friedreich's Ataxia with Double Optic Atrophy

Celiac crisis with ataxia in a child

Cell biology of spinocerebellar ataxia

Cellular hypersensitivity to ionising radiation in Friedreich's ataxia.

Cerebellar Ataxia

Cerebellar Ataxia

Cerebellar Ataxia

Cerebellar Ataxia

Cerebellar Ataxia (Marie's Ataxy)

Cerebellar ataxia and ectodermal dysplasia in brothers.

Cerebellar Ataxia and Overactive Bladder after Encephalitis Affecting the Cerebellum

Cerebellar ataxia due to hyponatremia.

Cerebellar Ataxia from Multiple Potential Causes: Hypothyroidism, Hashimoto's Thyroiditis, Thalamic Stimulation, and Essential Tremor

Cerebellar ataxia in coeliac disease--no evidence of a humoral aetiology.

Cerebellar ataxia in patients with malaria treated with chloroquine.

Cerebellar Ataxia in Patients with Mitochondrial DNA Disease: A Molecular Clinicopathological Study

Cerebellar Ataxia of doubtful Ætiology

Cerebellar Ataxia with Complete Clinical Recovery and Resolution of MRI Lesions Related to Central Pontine Myelinolysis: Case Report and Literature Review

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)

Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome (CANVAS): a histopathologic case report

Cerebellar Ataxia with Symptoms of a (? preceding) Hypophyseal Lesion

Cerebellar Soluble Mutant Ataxin-3 Level Decreases during Disease Progression in Spinocerebellar Ataxia Type 3 Mice

Cervical dystonia in spinocerebellar ataxia type 2: clinical and polymyographic findings

CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome

Characteristics of Gait Ataxia in δ2 Glutamate Receptor Mutant Mice, ho15J

Chemical probes identify a role for histone deacetylase 3 in Friedreich’s ataxia gene silencing

Child with a Peculiar Gait (? Functional Ataxia)

Choline chloride in the treatment of ataxia.

Choline in hereditary ataxia.

Chromatin modifying protein 1A (Chmp1A) of the endosomal sorting complex required for transport (ESCRT)-III family activates ataxia telangiectasia mutated (ATM) for PanC-1 cell growth inhibition

Chronic inflammatory demyelinating polyradiculoneuropathy with ataxia

Chronic suppression of inositol 1,4,5-triphosphate receptor-mediated calcium signaling in cerebellar Purkinje cells alleviates pathological phenotype in spinocerebellar ataxia 2 mice

Clinical and Genetic Analysis of Spinocerebellar Ataxia in Mali

Clinical and Molecular Characterization of Ataxia with Oculomotor Apraxia Patients In Saudi Arabia

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

Clinical Responses to Rituximab in a Case of Neuroblastoma with Refractory Opsoclonus Myoclonus Ataxia Syndrome

Clinical utility gene card for: fragile X mental retardation syndrome, fragile X-associated tremor/ataxia syndrome and fragile X-associated primary ovarian insufficiency

Cognitive Functions in Ataxia with Oculomotor Apraxia Type 2

Common genetic changes in leiomyosarcoma and gastrointestinal stromal tumour: implication for ataxia telangiectasia mutated involvement

Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia

Complete deletion of the aprataxin gene: ataxia with oculomotor apraxia type 1 with severe phenotype and cognitive deficit

Computational analysis of calcium signaling and membrane electrophysiology in cerebellar Purkinje neurons associated with ataxia

Congenital Cerebellar Ataxia

Congenital Cerebellar Ataxia

Congenital Cerebellar Ataxia with Auditory Aphasia

Congenital cerebellar ataxia, mental retardation, and atrophic retinal lesions in two brothers.

Contactin-associated protein-2 antibodies in non-paraneoplastic cerebellar ataxia

Crystal structures of CGG RNA repeats with implications for fragile X-associated tremor ataxia syndrome

Current and emerging treatment options in the management of Friedreich ataxia

Cutaneous granulomatosis and combined immunodeficiency revealing Ataxia-Telangiectasia: a case report

Cytotoxic CD8⁺ T cells and CD138⁺ plasma cells prevail in cerebrospinal fluid in non-paraneoplastic cerebellar ataxia with contactin-associated protein-2 antibodies

Dbf4 Is Direct Downstream Target of Ataxia Telangiectasia Mutated (ATM) and Ataxia Telangiectasia and Rad3-related (ATR) Protein to Regulate Intra-S-phase Checkpoint

Deep Brain Stimulation for the Treatment of Tremor and Ataxia Associated with Abetalipoproteinemia

Defective DNA Ligation during Short-Patch Single-Strand Break Repair in Ataxia Oculomotor Apraxia 1

Defective Mitochondrial mRNA Maturation Is Associated with Spastic Ataxia

Defects in Mitochondrial Axonal Transport and Membrane Potential without Increased ROS Production in a Drosophila Model of Friedreich Ataxia

Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment

Delayed cerebellar ataxia: a new complication of falciparum malaria?

Delayed postnatal loss of P/Q type calcium channels recapitulates the absence epilepsy, dyskinesia, and ataxia phenotypes of genomic Cacna1A mutations

Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans

Dementia in Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): Comparison with Alzheimer’s Disease

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 2

Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias

Development of Frataxin Gene Expression Measures for the Evaluation of Experimental Treatments in Friedreich’s Ataxia

Development of Wolff-Parkinson-White syndrome in a patient with Friedreich's ataxia.

Diagnostic value of anti-GQ1b antibodies in a patient with relapsing dysarthria and ataxia

Differential Expression of PGC-1α and Metabolic Sensors Suggest Age-Dependent Induction of Mitochondrial Biogenesis in Friedreich Ataxia Fibroblasts

D-lactic acidosis and ataxia in a man with Crohn disease

DNA-Dependent Protein Kinase and Ataxia Telangiectasia Mutated (ATM) Promote Cell Survival in Response to NK314, a Topoisomerase IIα Inhibitor

Donor-Derived Brain Tumor Following Neural Stem Cell Transplantation in an Ataxia Telangiectasia Patient

Down-regulation of Bioenergetics in a Cellular Model of Friedreich's Ataxia: Frataxin Deficiency Affects Formation of Respiratory Supercomplexes and Glycolysis

Early changes in cerebellar physiology accompany motor dysfunction in the polyglutamine disease, Spinocerebellar Ataxia type 3

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

Effect of Long-Term Climbing Training on Cerebellar Ataxia: A Case Series

Effect of Trehalose on the Properties of Mutant γPKC, Which Causes Spinocerebellar Ataxia Type 14, in Neuronal Cell Lines and Cultured Purkinje Cells

Effects of Friedreich's ataxia (GAA)_n·(TTC)_n repeats on RNA synthesis and stability

Effects of Friedreich's ataxia GAA repeats on DNA replication in mammalian cells

Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant

Embryonic stem cell rescue of tremor and ataxia in myelin-deficient shiverer mice

Endogenously induced DNA double strand breaks arise in heterochromatic DNA regions and require ataxia telangiectasia mutated and Artemis for their repair

Enhanced Phosphorylation of Transcription Factor Sp1 in Response to Herpes Simplex Virus Type 1 Infection Is Dependent on the Ataxia Telangiectasia-Mutated Protein

Enzootic Ataxia (Swayback) in Goats

Enzootic Ataxia in Lambs and Kids in Saskatchewan

Epidemic ataxia in Western Nigeria.

Epidemic ataxia in Western Nigeria.

Epigenetic Silencing in Friedreich Ataxia Is Associated with Depletion of CTCF (CCCTC-Binding Factor) and Antisense Transcription

Epigenetics in Friedreich's Ataxia: Challenges and Opportunities for Therapy

Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies

Epilepsy and cerebellar ataxia associated with anti‐glutamic acid decarboxylase antibodies

Epilepsy in a patient with ataxia caused by vitamin E deficiency

Epilepsy, Ataxia, Sensorineural Deafness, Tubulopathy, and KCNJ10 Mutations

Episodic ataxia and hemiplegia caused by the 8993T→C mitochondrial DNA mutation

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release

Episodic vertical oscillopsia with progressive gait ataxia: clinical description of a new episodic syndrome and evidence of linkage to chromosome 13q

Estrogen Prevents Oxidative Damage to the Mitochondria in Friedreich's Ataxia Skin Fibroblasts

Estrogen Protection in Friedreich's Ataxia Skin Fibroblasts

Evidence for RNA-mediated toxicity in the fragile X-associated tremor/ataxia syndrome

Evidence that the Nijmegen breakage syndrome protein, an early sensor of double-strand DNA breaks (DSB), is involved in HIV-1 post-integration repair by recruiting the ataxia telangiectasia-mutated kinase in a process similar to, but distinct from, cellular DSB repair

Evolution of diabetes mellitus in a case of Friedreich's ataxia

Exercise Capacity and Idebenone Intervention in Children and Adolescents with Friedreich’s Ataxia

Exome Sequencing Reveals a Homozygous SYT14 Mutation in Adult-Onset, Autosomal-Recessive Spinocerebellar Ataxia with Psychomotor Retardation

Exon deletions and intragenic insertions are not rare in ataxia with oculomotor apraxia 2

Expanded ataxin-7 cause toxicity by inducing ROS production from NADPH oxidase complexes in a stable inducible Spinocerebellar ataxia type 7 (SCA7) model

Expansion of CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene in idiopathic oligozoospermia patients

Expansion of Intronic GGCCTG Hexanucleotide Repeat in NOP56 Causes SCA36, a Type of Spinocerebellar Ataxia Accompanied by Motor Neuron Involvement

Expansions, contractions, and fragility of the spinocerebellar ataxia type 10 pentanucleotide repeat in yeast

Experimental Antioxidant Therapy in Ataxia Telangiectasia

Experimental Ataxia

Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

Expression of Caytaxin Protein in Cayman Ataxia Mouse Models Correlates with Phenotype Severity

False-Positive Head-Impulse Test in Cerebellar Ataxia

Familial Ataxia Resembling Disseminated Sclerosis

Familial cerebellar ataxia and diabetes insipidus.

Familial cerebellar ataxia and possible cosegregation with an inversion in chromosome 4.

Familial spinocerebellar ataxia with skin hyperpigmentation.

Family Cerebellar Ataxia in Two Half-sisters

Fanconi anemia pathway–deficient tumor cells are hypersensitive to inhibition of ataxia telangiectasia mutated

Fatigue in spinocerebellar ataxia: Patient self-assessment of an early and disabling symptom

Fragile X-Associated Tremor Ataxia Syndrome: The Expanding Clinical Picture, Pathophysiology, Epidemiology, and Update on Treatment

Fragile X-associated Tremor/Ataxia Syndrome (FXTAS): Clinical Phenotype, Diagnosis and Treatment

Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13)

Friedreich Ataxia: Molecular Mechanisms, Redox Considerations, and Therapeutic Opportunities

Friedreich’s Ataxia Induced Pluripotent Stem Cells Model Intergenerational GAA•TTC Triplet Repeat Instability

Friedreich’s ataxia is a mitochondrial disorder

Friedreich’s ataxia variants I154F and W155R diminish frataxin-based activation of the iron-sulfur cluster assembly complex

Friedreich’s ataxia: Pathology, pathogenesis, and molecular genetics

Friedreich's ataxia

Friedreich's Ataxia

Friedreich's Ataxia

Friedreich's Ataxia (GAA)_n•(TTC)_n Repeats Strongly Stimulate Mitotic Crossovers in Saccharomyces cerevisae

Friedreich's ataxia and juvenile diabetic joint contracture.

Friedreich's Ataxia as a Cause of Premature Coronary Artery Disease

Friedreich's Ataxia Causes Redistribution of Iron, Copper, and Zinc in the Dentate Nucleus

Friedreich's Ataxia in an Undersized Girl, aged 10

Friedreich's ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase

Friedreich's ataxia: the vicious circle hypothesis revisited

Functional and Computational Assessment of Missense Variants in the Ataxia-Telangiectasia Mutated (ATM) Gene: Mutations with Increased Cancer Risk

Functional Annotation of Small Noncoding RNAs Target Genes Provides Evidence for a Deregulated Ubiquitin-Proteasome Pathway in Spinocerebellar Ataxia Type 1

Functional Characterization and Targeted Correction of ATM Mutations Identified in Japanese Patients with Ataxia-Telangiectasia

Functional effects of spinocerebellar ataxia type 13 mutations are conserved in zebrafish Kv3.3 channels

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia

Functional Significance for a Heterogenous Ribonucleoprotein A18 Signature RNA Motif in the 3′-Untranslated Region of Ataxia Telangiectasia Mutated and Rad3-related (ATR) Transcript

Gastric adenocarcinoma due to ataxia-telangiectasia (Louis-Bar syndrome).

Gastric outlet obstruction due to adenocarcinoma in a patient with Ataxia-Telangiectasia syndrome: a case report and review of the literature

Gefitinib radiosensitizes non-small cell lung cancer cells through inhibition of ataxia telangiectasia mutated

Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome

Genetic and functional characterisation of the P/Q calcium channel in episodic ataxia with epilepsy

Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity

Genetic Variations Creating MicroRNA Target Sites in the FXN 3′-UTR Affect Frataxin Expression in Friedreich Ataxia

Hashimoto encephalopathy presenting with progressive cerebellar ataxia

Hashimoto's encephalopathy presenting with progressive cerebellar ataxia

HDAC Inhibitors Correct Frataxin Deficiency in a Friedreich Ataxia Mouse Model

Heart in Friedreich's Ataxia

Heme oxygenase-1 and carbon monoxide modulate DNA repair through ataxia-telangiectasia mutated (ATM) protein

HEMIPLEGIA IN A YOUNG CHILD, FOLLOWED LATER BY LOCOMOTOR ATAXIA

Hepatic mitochondrial dysfunction in Friedreich Ataxia

Hereditary Cerebellar Ataxia

Heredity Ataxia

High frequency of Friedreich’s ataxia carriers in the Paphos district of Cyprus

High frequency of Machado-Joseph disease identified in Southeastern Chinese kindreds with spinocerebellar ataxia

High-Dose Zolpidem Withdrawal Seizure in a Patient With Spinocerebellar Ataxia

HISTONE ACETYLATION, ACETYLTRANSFERASES, AND ATAXIA—ALTERATION OF HISTONE ACETYLATION AND CHROMATIN DYNAMICS IS IMPLICATED IN THE PATHOGENESIS OF POLYGLUTAMINE-EXPANSION DISORDERS

Histone Deacetylases Suppress CGG Repeat–Induced Neurodegeneration Via Transcriptional Silencing in Models of Fragile X Tremor Ataxia Syndrome

Homozygous deficiency of ubiquitin-ligase ring-finger protein RNF168 mimics the radiosensitivity syndrome of ataxia-telangiectasia

Human quadrupedalism is not an epiphenomenon caused by neurodevelopmental malformation and ataxia

Human T-lymphotropic virus type 1 p30 interacts with REGγ and ATM (Ataxia Telangiectasia Mutated) to promote cell survival

Human T-lymphotropic Virus Type 1 p30 Interacts with REGγ and Modulates ATM (Ataxia Telangiectasia Mutated) to Promote Cell Survival

Human umbilical cord blood-derived mononuclear cell transplantation: case series of 30 subjects with Hereditary Ataxia

Hydrogen peroxide scavenging rescues frataxin deficiency in a Drosophila model of Friedreich's ataxia

Hyperexpansion of GAA repeats affects post-initiation steps of FXN transcription in Friedreich’s ataxia

Hyponatraemia as a cause of reversible ataxia.

Identification of a Novel Nonsense Mutation p.Tyr1957Ter of CACNA1A in a Chinese Family with Episodic Ataxia 2

Identification of ATM Mutations in Korean Siblings with Ataxia-Telangiectasia

Identification of nonferritin mitochondrial iron deposits in a mouse model of Friedreich ataxia

II. Splenectomy for Myelogenous Leukæmia: Report of Later History of a Recovered Case, and Ultimate Death from Locomotor Ataxia

Immunodeficiency in ataxia telangiectasia is correlated strongly with the presence of two null mutations in the ataxia telangiectasia mutated gene

Impact of Friedreich’s Ataxia on health-care resource utilization in the United Kingdom and Germany

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia

Impaired myocardial perfusion reserve and fibrosis in Friedreich ataxia: a mitochondrial cardiomyopathy with metabolic syndrome

Impaired Nuclear Nrf2 Translocation Undermines the Oxidative Stress Response in Friedreich Ataxia

Inactivation of hnRNP K by Expanded Intronic AUUCU Repeat Induces Apoptosis Via Translocation of PKCδ to Mitochondria in Spinocerebellar Ataxia 10

Increased risk of breast cancer among female relatives of patients with ataxia-telangiectasia: a causal relationship?

Influence of Friedreich Ataxia GAA Noncoding Repeat Expansions on Pre-mRNA Processing

Interferon gamma upregulates frataxin and corrects the functional deficits in a Friedreich ataxia model

Investigation of tRNA^Lys/Leu and ATPase 6/8 gene mutations in Iranian ataxia telangiectasia patients

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia

Ironing out a therapy for Friedreich ataxia

Is Friedreich ataxia an epigenetic disorder?

Isoniazid toxicity with cerebellar ataxia in a child.

Isoniazid toxicity with cerebellar ataxia in a child.

Jeong‐Min Kim, Wi‐Sun Ryu, Young‐Hwan Hwang, Ji Soo Kim

K_Ca channels as therapeutic targets in Episodic Ataxia type-2

KCNC3: Phenotype, mutations, channel biophysics – a study of 260 familial ataxia patients

KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function

Laetiporus sulphureus causing visual hallucinations and ataxia in a child.

Large Genomic Deletions in CACNA1A Cause Episodic Ataxia Type 2

Large left ventricular thrombus in a patient with Friedreich's ataxia.

Large-scale expansions of Friedreich’s ataxia GAA repeats in yeast

Lateral-flow Immunoassay for the Frataxin Protein in Friedreich’s Ataxia Patients and Carriers

Lecithin treatment in Friedreich's ataxia.

Lentivector-mediated rescue from cerebellar ataxia in a mouse model of spinocerebellar ataxia

Leukoencephalopathy after prophylactic radiation for leukaemia in ataxia telangiectasia.

Limb ataxia and proximal intracranial territory brain infarcts: clinical and topographical correlations

Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen

Limiting Activity at β₁-Subunit-Containing GABA_A Receptor Subtypes Reduces Ataxia

Lithium Therapy Improves Neurological Function and Hippocampal Dendritic Arborization in a Spinocerebellar Ataxia Type 1 Mouse Model

Locomotor Ataxia

Locomotor ataxia (two cases)

LOCOMOTOR ATAXIA in HUSBAND and WIFE

Long intronic GAA repeats causing Friedreich ataxia impede transcription elongation

Long intronic GAA•TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia

Longitudinal cerebral blood flow changes during speech in hereditary ataxia

Loss of Inhibitory Neuron AMPA Receptors Contributes to Ataxia and Epilepsy in Stargazer Mice

Loss of Intrinsic Organization of Cerebellar Networks in Spinocerebellar Ataxia Type 1: Correlates with Disease Severity and Duration

Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours

Machado-Joseph Disease/Spinocerebellar Ataxia Type 3

Major Depressive Disorder - A co-morbid condition in a case of spino-cerebellar ataxia with writer's cramp

Major Depressive Disorder Complicated with Spinocerebellar Ataxia: Report of 2 Cases

Manitoba. Enzootic ataxia (copper deficiency) in young goats

Massive Uterine Leiomyoma in a Patient with Friedreich's Ataxia: Is There a Possible Association?

Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design

Medical genetics: advances in brief: A mammalian cell cycle checkpoint utilizing p53 and GADD45 is defective in ataxia-telangiectasia

Medical genetics: advances in brief: A single ataxia telangiectasia gene with a product similar to P1-3 kinase

Medical genetics: advances in brief: Diagnosing Friedreich's ataxia

Medical genetics: advances in brief: Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia 1

Medical genetics: advances in brief: Frataxin gene of Friedreich's ataxia is targeted to mitochondria

Medical genetics: advances in brief: Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

Medical genetics: advances in brief: Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion

Meningococcal meningitis presenting with bilateral deafness and ataxia.

Mesenchymal stem cell transplantation ameliorates motor function deterioration of spinocerebellar ataxia by rescuing cerebellar Purkinje cells

Mesenchymal Stem Cells Restore Frataxin Expression and Increase Hydrogen Peroxide Scavenging Enzymes in Friedreich Ataxia Fibroblasts

MicroRNA-18a Attenuates DNA Damage Repair through Suppressing the Expression of Ataxia Telangiectasia Mutated in Colorectal Cancer

Milestones in ataxia

miR-18a Impairs DNA Damage Response through Downregulation of Ataxia Telangiectasia Mutated (ATM) Kinase

Misclassification of Patients with Spinocerebellar Ataxia as Having Psychogenic Postural Instability Based on Computerized Dynamic Posturography

Missense Mutation in CAPN1 Is Associated with Spinocerebellar Ataxia in the Parson Russell Terrier Dog Breed

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

Mitochondrial Dysfunction and Oxidative Stress Contribute to the Pathogenesis of Spinocerebellar Ataxia Type 12 (SCA12)

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

Mitochondrial dysfunction in ataxia-telangiectasia

Mitochondrial ferritin limits oxidative damage regulating mitochondrial iron availability: hypothesis for a protective role in Friedreich ataxia

Modern View of Ataxia

Molar tooth sign with ataxia and see-saw nystagmus (Joubert syndrome)

Monoclonal Gammopathy of Undetermined Significance (MGUS) in a Man with Fragile X-associated Tremor/Ataxia Syndrome

More than (where the target) meets the eyes: Disrupted visuomotor transformations in optic ataxia

Mortality in Friedreich's Ataxia

Mortality in Friedreich's Ataxia

Motor Decline in Clinically Presymptomatic Spinocerebellar Ataxia Type 2 Gene Carriers

Mouse Models of Fragile X-Associated Tremor Ataxia

Mouse Models of Spinocerebellar Ataxia Type 3 (Machado-Joseph Disease)

Mutation of plasma membrane Ca²⁺ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca²⁺ homeostasis

Mutational Ataxia Resulting From Abnormal Vestibular Acquisition And Processing Is Partially Compensated For

Mutations in DNMT1 cause autosomal dominant cerebellar ataxia, deafness and narcolepsy

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

Mutations In Rare Ataxia Genes Are Uncommon Causes of Sporadic Cerebellar Ataxia

Mutations in String/CDC25 inhibit cell cycle re-entry and neurodegeneration in a Drosophila model of Ataxia telangiectasia

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans

Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia with Mental Retardation (Dysequilibrium Syndrome)

Myocardial ischemia in the absence of epicardial coronary artery disease in Friedreich's ataxia

MYST Family Lysine Acetyltransferase Facilitates Ataxia Telangiectasia Mutated (ATM) Kinase-mediated DNA Damage Response in Toxoplasma gondii

N Terminus Is Key to the Dominant Negative Suppression of Ca_V2 Calcium Channels: IMPLICATIONS FOR EPISODIC ATAXIA TYPE 2

Nerve excitability studies characterize K_V1.1 fast potassium channel dysfunction in patients with episodic ataxia type 1

Nerve Growth Factor Stimulates Interaction of Cayman Ataxia Protein BNIP-H/Caytaxin with Peptidyl-Prolyl Isomerase Pin1 in Differentiating Neurons

NEUROCHEMICAL ALTERATIONS IN SPINOCEREBELLAR ATAXIA TYPE 1 AND THEIR CORRELATIONS WITH CLINICAL STATUS

Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich’s ataxia

Neuropsychological Features of Patients with Spinocerebellar Ataxia (SCA) Types 1, 2, 3, and 6

Newborn Screening for SCID Identifies Patients with Ataxia Telangiectasia

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

NONINVASIVE DETECTION OF PRE-SYMPTOMATIC AND PROGRESSIVE NEURODEGENERATION IN A MOUSE MODEL OF SPINOCEREBELLAR ATAXIA TYPE 1

Non-Type I Cystinuria Associated with Mental retardation and Ataxia in a Korean Boy with a New Missence Mutation(G173R) in the SLC7A9 Gene

Normal and Friedreich Ataxia Cells Express Different Isoforms of Frataxin with Complementary Roles in Iron-Sulfur Cluster Assembly

Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia

Novel Frataxin Isoforms May Contribute to the Pathological Mechanism of Friedreich Ataxia

Novel SACS Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

Nuclear accumulation of HDAC4 in ATM deficiency promotes neurodegeneration in ataxia-telangiectasia

Ophthalmic features of Friedreich ataxia

Opsoclonus showing only during eye closure in hereditary cerebellar ataxia.

Opsoclonus, Myoclonus, Ataxia and Occult Neuroblastoma (Neuroblastoma—Encephalopathy)

Oral choline in cerebellar ataxia.

Oral choline in cerebellar ataxia.

Orthogonal diffusion-weighted MRI measures distinguish region-specific degeneration in cerebellar ataxia subtypes

Osler on the aetiology of tabes dorsalis (Locomotor Ataxia)

Over Expression of Nucleophosmin and Nucleolin Contributes to the Suboptimal Activation of a G2/M Checkpoint in Ataxia Telangiectasia Fibroblasts

P-2. Friedreich’s ataxia carrier screening in the population originating from the Paphos district of Cyprus

P-3. Investigation of the spinocerebellar ataxia type 10 mutation in the Cypriot population

P-4. Investigation of Cypriot families with autosomal recessive spinocerebellar ataxia (arsca) by linkage analysis at known arsca genes/loci

p53 centrosomal localization diagnoses ataxia-telangiectasia homozygotes and heterozygotes

Paraneoplastic ataxia and dystonia secondary to a malignant fibrous histiocytoma

Paraneoplastic opsoclonus-myoclonus ataxia associated with non-small-cell lung carcinoma

Paroxysmal dysarthria and ataxia: associated MRI abnormality.

Partial Loss of Ataxin-1 Function Contributes to Transcriptional Dysregulation in Spinocerebellar Ataxia Type 1 Pathogenesis

Partial loss of Tip60 slows mid-stage neurodegeneration in a spinocerebellar ataxia type 1 (SCA1) mouse model

Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1

Patient-derived iPSCs: a new model for Friedreich’s ataxia

Peptide nucleic acid (PNA) binding and its effect on in vitro transcription in Friedreich’s ataxia triplet repeats

Periodic alternating nystagmus in a case of hereditary ataxia and its treatment with baclofen.

Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia

Peripheral neuropathy in chromosome16q22.1 linked autosomal dominant cerebellar ataxia

Persistent but less severe ataxia in long-term vs. short-term abstinent alcoholic men and women: a cross-sectional analysis

Perturbations in Ataxia Telangiectasia Mutant Signaling Pathways After Drug-Induced Acute Liver Failure and Their Reversal During Rescue of Animals by Cell Therapy

PGC-1alpha Down-Regulation Affects the Antioxidant Response in Friedreich's Ataxia

Pharmacological Screening Using an FXN-EGFP Cellular Genomic Reporter Assay for the Therapy of Friedreich Ataxia

Phosphorylation of polynucleotide kinase/ phosphatase by DNA-dependent protein kinase and ataxia-telangiectasia mutated regulates its association with sites of DNA damage

Physiologic alterations in ataxia: Channeling changes into novel therapies

Pigmentary macular dystrophy in spinocerebellar ataxia type 1

Points: Friedreich's ataxia and electrocardiographic changes

Pontocerebellar volume deficits and ataxia in alcoholic men and women: no evidence for “telescoping”

Population-based study of acquired cerebellar ataxia in Al-Kharga district, New Valley, Egypt

Predictors of progression in patients with Friedreich ataxia

Pregnancy in women with Friedreich's ataxia.

Prepulse Inhibition in Patients with Fragile X-associated Tremor Ataxia Syndrome

Presenilin-1 mutation associated with amnesia, ataxia, and medial temporal lobe T2 signal changes

Presumed ataxia-telangiectasia in a man.

Presymptomatic testing for autosomal dominant spinocerebellar ataxia type 1.

Prevalence Rate and Functional Status of Cerebellar Ataxia in Korea

Primary small bowel ganglioneuroblastoma and Friedreich's ataxia.

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

Prognostic Significance of Ataxia-Telangiectasia Mutated, DNA-dependent Protein Kinase Catalytic Subunit, and Ku Heterodimeric Regulatory Complex 86-kD Subunit Expression in Patients With Nonsmall Cell Lung Cancer

Progressive Ataxia in a Child with Positive Blood Wassermann Reaction

Progressive Cerebellar Ataxia

Progressive dementia associated with ataxia or obesity in patients with Tropheryma whipplei encephalitis

Prolonged Cerebellar Ataxia: An Unusual Complication of Hypoglycemia

Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model

Prolonged vertigo and ataxia after mandibular nerve block for treatment of trigeminal neuralgia

Protection from Ataxia-linked Apoptosis by Gap Junction Inhibitors

Protection from UV-induced skin carcinogenesis by genetic inhibition of the ataxia telangiectasia and Rad3-related (ATR) kinase

Protein interacting with C kinase (PICK1) is a suppressor of spinocerebellar ataxia 3-associated neurodegeneration in Drosophila

Proteomic Characterization of Cerebrospinal Fluid from Ataxia-Telangiectasia (A-T) Patients Using a LC/MS-Based Label-Free Protein Quantification Technology

PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

Psoralen-Induced DNA Interstrand Cross-Links Block Transcription and Induce p53 in an Ataxia-Telangiectasia and Rad3-Related-Dependent Manner

Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.

Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of Fragile X Tremor/Ataxia Syndrome

Pure optic ataxia associated with a right parieto-occipital tumour.

Purkinje Cell-Specific Ablation of Ca_V2.1 Channels is Sufficient to Cause Cerebellar Ataxia in Mice

Purkinje cell-specific males absent on the first (mMof) gene deletion results in an ataxia-telangiectasia-like neurological phenotype and backward walking in mice

R- and S-Equol have equivalent cytoprotective effects in Friedreich’s Ataxia

R583Q CACNA1A variant in SHM1 and ataxia: case report and literature update

Radio-protective effects of manganese-containing superoxide dismutase mimics on ataxia telangiectasia cells

Ralstonia pickettii-Induced Ataxia in Immunodeficient Mice

Rapid Flow Cytometry–Based Structural Maintenance of Chromosomes 1 (SMC1) Phosphorylation Assay for Identification of Ataxia-Telangiectasia Homozygotes and Heterozygotes

Rapidly progressive dementia and ataxia in an elderly man

Rare Presentation of Unilateral Weakness, Involuntary Movements and Ataxia with Subcortical T2 Hypointensity in a Diabetic Patient: A Case Report

Rational design of ligands targeting triplet repeating transcripts that cause RNA dominant disease: Application to myotonic muscular dystrophy type 1 and spinocerebellar ataxia type 3

Reconstitution of Human Claspin-mediated Phosphorylation of Chk1 by the ATR (Ataxia Telangiectasia-mutated and Rad3-related) Checkpoint Kinase

Recurrent confusion and ataxia triggered by pyrexia in a case of occult multiple sclerosis.

Recurrent major depression, ataxia, and cardiomyopathy: association with a novel POLG mutation?

Reduced effect of NMDA glutamate receptor antagonist on ethanol-induced ataxia and striatal glutamate levels in mice lacking ENT1

Regional rescue of spinocerebellar ataxia type 1 phenotypes by 14-3-3ε haploinsufficiency in mice underscores complex pathogenicity in neurodegeneration

Rehabilitation for Ataxia Following Chemotherapy for Burkitt Lymphoma Involving the Rectum

Repeat Expansion Affects Both Transcription Initiation and Elongation in Friedreich Ataxia Cells

Repeated Attacks of Hemiplegia with Ataxia and Bulbar Palsy in a Child

Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia

Reply: Increased risk of breast cancer among female relatives of patients with Ataxia-Telangiectasia: a causal relationship?

Respective implications of glutamate decarboxylase antibodies in stiff person syndrome and cerebellar ataxia

Retinal nerve fiber hypertrophy in ataxia of Charlevoix-Saguenay patients

Retinal Nerve Fibre Layer and Macular Thinning in Spinocerebellar Ataxia and Cerebellar Multisystem Atrophy

Retinitis Pigmentosa Combined with Congenital Deafness; with Vestibulo-Cerebellar Ataxia and Mental Abnormality in a Proportion of Cases

RetractionPubReaderPDF–140KRetracted Article

Reversible ataxia following chronic exposure to paradichlorobenzene.

RNA Gain-of-Function in Spinocerebellar Ataxia Type 8

Robert Bentley Todd (1809-60) and locomotor ataxia.

Role of ataxia telangiectasia mutated in insulin signaling of muscle-derived cell lines and mouse soleus

Role of the ataxia-telangiectasia gene (ATM) in breast cancer: A-T heterozygotes seem to have an increased risk but its size is unknown

Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models

S phase entry causes homocysteine-induced death while ataxia telangiectasia and Rad3 related protein functions anti-apoptotically to protect neurons

Saccades during Attempted Fixation in Parkinsonian Disorders and Recessive Ataxia: From Microsaccades to Square-Wave Jerks

Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

SCA15 due to large ITPR1 deletions in a cohort of 333 Caucasian families with dominant ataxia

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10

Selective GABA Transporter Inhibitors Tiagabine and EF1502 Exhibit Mechanistic Differences in Their Ability to Modulate the Ataxia and Anticonvulsant Action of the Extrasynaptic GABA_A Receptor Agonist Gaboxadol

Selective loss of Purkinje cells in a patient with anti-gliadin-antibody-positive autoimmune cerebellar ataxia

Senataxin, defective in ataxia oculomotor apraxia type 2, is involved in the defense against oxidative DNA damage

Sensory neuropathy as part of the cerebellar ataxia neuropathy vestibular areflexia syndrome

Sequencing analysis of the ITPR1 gene in a pure autosomal dominant spinocerebellar ataxia series

Sequestration of DROSHA and DGCR8 by Expanded CGG RNA Repeats Alters MicroRNA Processing in Fragile X-Associated Tremor/Ataxia Syndrome

Serology of celiac disease in gluten sensitive ataxia or neuropathy; Role of deamidated gliadin Antibody

Severe reaction to radiotherapy for breast cancer as the presenting feature of ataxia telangiectasia

SLC9A6 Mutations Cause X-Linked Mental Retardation, Microcephaly, Epilepsy, and Ataxia, a Phenotype Mimicking Angelman Syndrome

Smad2 Protein Disruption in the Central Nervous System Leads to Aberrant Cerebellar Development and Early Postnatal Ataxia in Mice

Small molecules affecting transcription in Friedreich ataxia

Spectrin mutations that cause spinocerebellar ataxia type 5 impair axonal transport and induce neurodegeneration in Drosophila

Speech characteristics associated with three genotypes of ataxia

Spinocerebellar Ataxia Type 10: Frequency of epilepsy in a large sample of Brazilian patients

Spinocerebellar Ataxia Type 13 Mutant Potassium Channel Alters Neuronal Excitability and Causes Locomotor Deficits in Zebrafish

Spinocerebellar ataxia type 13 mutation that is associated with disease onset in infancy disrupts axonal pathfinding during neuronal development

Spinocerebellar ataxia type 2 in seven Korean families: CAG trinucleotide expansion and clinical characteristics.

Spinocerebellar ataxia type 2 is associated with Parkinsonism and Lewy body pathology

Spinocerebellar Ataxia Type 23: A Genetic Update

Spinocerebellar Ataxia Type 31 Is Associated with “Inserted” Penta-Nucleotide Repeats Containing (TGGAA)_n

Spinocerebellar ataxia type 6 and episodic ataxia type 2 in a Korean family.

Spinocerebellar ataxia type 6 knockin mice develop a progressive neuronal dysfunction with age-dependent accumulation of mutant Ca_V2.1 channels

Spinocerebellar ataxia type 7 without retinal degeneration: a case report.

Spinocerebellar ataxia type 8 larger triplet expansion alters histone modification and induces RNA foci

Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation?

Spinocerebellar Ataxia: Patient and Health Professional Perspectives on Whether and How Patents Affect Access to Clinical Genetic Testing

Splice isoform-specific suppression of the Ca_V2.1 variant underlying Spinocerebellar ataxia type 6

Spontaneous Fracture of Right Tibia and Fibula in a Case of Locomotor Ataxia

Stable brain ATM message and residual kinase-active ATM protein in ataxia-telangiectasia

Stem Cells from Wildtype and Friedreich’s Ataxia Mice Present Similar Neuroprotective Properties in Dorsal Root Ganglia Cells

Streptomycin and Labyrinthine Ataxia

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

Structural biology of the Mre11:Nbs1 complex structure yields insights into ataxia–telangiectasia–like disease mutations and DNA damage signaling

Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex

SUPPRESSION OF SACCADIC INTRUSIONS IN HEREDITARY ATAXIA BY MEMANTINE

Surgical Treatment of Locomotor Ataxia

Survival probability in ataxia telangiectasia

SWEET FA: The autobiography of Alun Peredur Jones who suffers from Friedreich's ataxia an inherited disease

Targeted Next-Generation Sequencing of a 12.5 Mb Homozygous Region Reveals ANO10 Mutations in Patients with Autosomal-Recessive Cerebellar Ataxia

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia

Temporal Retinal Nerve Fiber Loss in Patients with Spinocerebellar Ataxia Type 1

Tethering DNA Damage Checkpoint Mediator Proteins Topoisomerase IIβ-binding Protein 1 (TopBP1) and Claspin to DNA Activates Ataxia-Telangiectasia Mutated and RAD3-related (ATR) Phosphorylation of Checkpoint Kinase 1 (Chk1)

The Ataxia (ax^J) Mutation Causes Abnormal GABA_A Receptor Turnover in Mice

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

The carboxy-terminal fragment of α_1A calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells

The Cellular Ataxia Telangiectasia-Mutated Kinase Promotes Epstein-Barr Virus Lytic Reactivation in Response to Multiple Different Types of Lytic Reactivation-Inducing Stimuli

The DNA Damage Response Kinases DNA-dependent Protein Kinase (DNA-PK) and Ataxia Telangiectasia Mutated (ATM) Are Stimulated by Bulky Adduct-containing DNA

The DNA Damage Sensors Ataxia-Telangiectasia Mutated Kinase and Checkpoint Kinase 2 Are Required for Hepatitis C Virus RNA Replication

The First Cellular Models Based on Frataxin Missense Mutations That Reproduce Spontaneously the Defects Associated with Friedreich Ataxia

The Friedreich's ataxia protein frataxin modulates DNA base excision repair in prokaryotes and mammals

The Heart in Friedreich’s Ataxia: Basic Findings and Clinical Implications

The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7

THE LESIONS IN THE CORD FROM A CASE OF FRIEDREICH'S OR HEREDITARY ATAXIA

The MCK mouse heart model of Friedreich's ataxia: Alterations in iron-regulated proteins and cardiac hypertrophy are limited by iron chelation

The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model

The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: A 2-year follow-up study

The Role of the Caudal Superior Parietal Lobule in Updating Hand Location in Peripheral Vision: Further Evidence from Optic Ataxia

The Role of the DNA Damage Response Kinase Ataxia Telangiectasia Mutated in Neuroprotection

The Role of the Neuro-Astro-Vascular Unit in the Etiology of Ataxia Telangiectasia

The Spinocerebellar Ataxia 12 Gene Product and Protein Phosphatase 2A Regulatory Subunit Bβ2 Antagonizes Neuronal Survival by Promoting Mitochondrial Fission

The syndrome of (predominantly cervical) dystonia and cerebellar ataxia: new cases indicate a distinct but heterogeneous entity

The therapeutic mode of action of 4-aminopyridine in cerebellar ataxia

The use of muscle biopsy in the diagnosis of undefined ataxia with cerebellar atrophy in children

The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice

Thr-1989 Phosphorylation Is a Marker of Active Ataxia Telangiectasia-mutated and Rad3-related (ATR) Kinase

Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17

Transcription-dependent Activation of Ataxia Telangiectasia Mutated Prevents DNA-dependent Protein Kinase-mediated Cell Death in Response to Topoisomerase I Poison

Transgenic rescue of ataxia mice reveals a male-specific sterility defect

Treatment of fragile X-associated tremor ataxia syndrome (FXTAS) and related neurological problems

Two Cases of Familial Ataxia

Two new cases of anti-Ca (anti-ARHGAP26/GRAF) autoantibody-associated cerebellar ataxia

Two New Pimelic Diphenylamide HDAC Inhibitors Induce Sustained Frataxin Upregulation in Cells from Friedreich's Ataxia Patients and in a Mouse Model

Two patients with spinocerebellar ataxia type 7 presenting with profound binocular visual loss yet minimal ophthalmoscopic findings

Underexpression and abnormal localization of ATM products in ataxia telangiectasia patients bearing ATM missense mutations

Understanding the genetic and molecular pathogenesis of Friedreich’s ataxia through animal and cellular models

Understanding the physiopathology of paraneoplastic and genetic cerebellar ataxia

Unilateral Ataxia

Unstable Spinocerebellar Ataxia Type 10 (ATTCT)·(AGAAT) Repeats Are Associated with Aberrant Replication at the ATX10 Locus and Replication Origin-Dependent Expansion at an Ectopic Site in Human Cells

Unusual cerebellar ataxia: "worm wobble" revisited

Use of choline in the treatment of ataxia associated with multiple sclerosis.

Usefulness of the Scale for the Assessment and Rating of Ataxia (SARA) in Ataxic Stroke Patients

VAMP1 Mutation Causes Dominant Hereditary Spastic Ataxia in Newfoundland Families

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

VEGF ameliorates the ataxic phenotype in spinocerebellar ataxia type 1 (SCA1) mice

Von Recklinghausen's Disease with Weakness and Ataxia in the Limbs, Spinal Curvature and Slight Acromegaly

Walking in circles: navigation deficits from Parkinson's disease but not from cerebellar ataxia

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice

β-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi