Ataxia.

Ataxia in children: early recognition and clinical evaluation. Ital J Pediatr (2017) 0.84

Neurogenomics in Africa: Perspectives, progress, possibilities and priorities. J Neurol Sci (2016) 0.78

Function Over Form: Modeling Groups of Inherited Neurological Conditions in Zebrafish. Front Mol Neurosci (2016) 0.76

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science (1996) 11.59

The many substrates and functions of ATM. Nat Rev Mol Cell Biol (2000) 5.46

Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria. Nat Genet (2001) 5.09

Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat Genet (1994) 4.36

Bickerstaff's brainstem encephalitis: clinical features of 62 cases and a subgroup associated with Guillain-Barré syndrome. Brain (2003) 2.58

Reconstitution of a minimal mtDNA replisome in vitro. EMBO J (2004) 2.49

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc Natl Acad Sci U S A (2009) 2.41

GeneTests: an online genetic information resource for health care providers. J Med Libr Assoc (2006) 2.36

Superficial siderosis of the central nervous system. Brain (1995) 2.31

Friedreich ataxia: the clinical picture. J Neurol (2009) 2.28

Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol (2007) 2.24

TWINKLE Has 5' -> 3' DNA helicase activity and is specifically stimulated by mitochondrial single-stranded DNA-binding protein. J Biol Chem (2003) 2.24

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet (2000) 2.21

Mutations in SYNE1 lead to a newly discovered form of autosomal recessive cerebellar ataxia. Nat Genet (2006) 2.17

Anti-Ma and anti-Ta associated paraneoplastic neurological syndromes: 22 newly diagnosed patients and review of previous cases. J Neurol Neurosurg Psychiatry (2008) 2.16

The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet (2005) 2.05

Cerebellar syndrome in myxoedema. Lancet (1960) 2.03

Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer protein. Nat Genet (1995) 2.03

Ataxia with isolated vitamin E deficiency: neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci (2004) 1.92

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients. Brain (2009) 1.91

Primary episodic ataxias: diagnosis, pathogenesis and treatment. Brain (2007) 1.91

Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. Brain (2007) 1.85

Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies. Brain (2003) 1.82

Coenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation. Neurology (2005) 1.80

Friedreich ataxia: an overview. J Med Genet (2000) 1.79

Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain (2000) 1.75

Cerebellar ataxia and coenzyme Q10 deficiency. Neurology (2003) 1.73

Mutations in FLVCR1 cause posterior column ataxia and retinitis pigmentosa. Am J Hum Genet (2010) 1.72

Ataxia with isolated vitamin E deficiency: heterogeneity of mutations and phenotypic variability in a large number of families. Am J Hum Genet (1998) 1.54

Cerebellar ataxias. Curr Opin Neurol (2009) 1.52

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum Mol Genet (2005) 1.38

Next-generation sequencing facilitates the diagnosis in a child with twinkle mutations causing cholestatic liver failure. J Pediatr Gastroenterol Nutr (2012) 1.29

Fragile X-associated tremor/ataxia syndrome: clinical phenotype, diagnosis, and treatment. J Investig Med (2009) 1.27

Headache and CNS white matter abnormalities associated with gluten sensitivity. Neurology (2001) 1.26

DNA damage-induced phosphorylation of the human telomere-associated protein TRF2. Proc Natl Acad Sci U S A (2005) 1.24

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). Proc Natl Acad Sci U S A (2012) 1.23

Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency. Neurology (2004) 1.22

Ataxia with vitamin E deficiency: update of molecular diagnosis. Neurol Sci (2010) 1.22

Combined therapy with idebenone and deferiprone in patients with Friedreich's ataxia. Cerebellum (2011) 1.21

Opsoclonus-myoclonus-ataxia syndrome with autoantibodies to glutamic acid decarboxylase. Clin Neurol Neurosurg (2008) 1.20

Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature. Arch Neurol (2005) 1.20

Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. Arch Neurol (2009) 1.18

Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat (2004) 1.18

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia. Neurogenetics (2008) 1.17

Epigenetic and neurological effects and safety of high-dose nicotinamide in patients with Friedreich's ataxia: an exploratory, open-label, dose-escalation study. Lancet (2014) 1.15

Riluzole in cerebellar ataxia: a randomized, double-blind, placebo-controlled pilot trial. Neurology (2010) 1.15

Structure of Mre11-Nbs1 complex yields insights into ataxia-telangiectasia-like disease mutations and DNA damage signaling. Nat Struct Mol Biol (2012) 1.14

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum. Orphanet J Rare Dis (2013) 1.13

Persistent cerebellar ataxia after exposure to toluene. Ann Neurol (1977) 1.13

Vestibulocerebellar ataxia. A newly defined hereditary syndrome with periodic manifestations. Arch Neurol (1963) 1.13

Mutations in a novel gene encoding a CRAL-TRIO domain cause human Cayman ataxia and ataxia/dystonia in the jittery mouse. Nat Genet (2003) 1.12

The novel human gene aprataxin is directly involved in DNA single-strand-break repair. Cell Mol Life Sci (2005) 1.12

Hereditary ataxias and spastic paraplegias: methodological aspects of a prevalence study in Portugal. J Clin Epidemiol (1997) 1.11

The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities. Nucleic Acids Res (2007) 1.10

Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology (2010) 1.10

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. Hum Mol Genet (2009) 1.09

Cerebellar ataxia with SYNE1 mutation accompanying motor neuron disease. Neurology (2013) 1.09

Cerebrotendinous xanthomatosis patients with and without parkinsonism: clinical characteristics and neuroimaging findings. Mov Disord (2010) 1.07

Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol (2003) 1.07

Refsum disease, peroxisomes and phytanic acid oxidation: a review. J Neuropathol Exp Neurol (2001) 1.07

Pathological findings in a case of hypothyroidism with ataxia. J Neurol Neurosurg Psychiatry (1971) 1.06

Senataxin plays an essential role with DNA damage response proteins in meiotic recombination and gene silencing. PLoS Genet (2013) 1.03

Consensus paper: pathological mechanisms underlying neurodegeneration in spinocerebellar ataxias. Cerebellum (2014) 1.03

Sensory ataxic neuropathy due to a novel C10Orf2 mutation with probable germline mosaicism. Neurology (2005) 1.02

In cis autosomal dominant mutation of Senataxin associated with tremor/ataxia syndrome. Neurogenetics (2006) 1.02

A missense mutation in PIK3R5 gene in a family with ataxia and oculomotor apraxia. Hum Mutat (2011) 1.02

Idebenone in Friedreich ataxia cardiomyopathy-results from a 6-month phase III study (IONIA). Am Heart J (2011) 1.01

Current and potential therapeutic strategies for the treatment of ataxia-telangiectasia. Br Med Bull (2007) 1.01

Autosomal dominant cerebellar ataxias: a systematic review of clinical features. Eur J Neurol (2014) 0.99

Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase. J Biol Chem (2008) 0.98

Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles. Hum Mutat (2005) 0.98

Cerebellar ataxia, congenital cataracts, and retarded somatic and mental maturation. Report of cases of Marinesco-Sjogren syndrome. Neurology (1962) 0.97

New findings in the ataxia of Charlevoix-Saguenay. J Neurol (2011) 0.96

Epilepsy and cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies. J Neurol Neurosurg Psychiatry (2007) 0.96

Sacsinopathies: sacsin-related ataxia. Cerebellum (2007) 0.95

Cerebellar ataxia due to lead encephalopathy in an adult. J Neurol Neurosurg Psychiatry (1998) 0.94

Friedreich's ataxia: MR findings involving the cervical portion of the spinal cord. AJR Am J Roentgenol (1994) 0.94

A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord (2012) 0.94

Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr (2009) 0.94

Update on clinical aspects and treatment of selected vitamin-responsive disorders II (riboflavin and CoQ 10). J Inherit Metab Dis (2012) 0.93

Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia-telangiectasia. Mol Ther (2012) 0.92

Refractory generalized seizures and cerebellar ataxia associated with anti-GAD antibodies responsive to immunosuppressive treatment. Eur J Neurol (2009) 0.92

Bismuth subsalicylate toxicity as a cause of prolonged encephalopathy with myoclonus. Mov Disord (1995) 0.92

A novel genomic disorder: a deletion of the SACS gene leading to spastic ataxia of Charlevoix-Saguenay. Eur J Hum Genet (2008) 0.91

Improvement of ataxia in alcoholic cerebellar atrophy through alcohol abstinence. J Neurol (1984) 0.91

Novel SACS mutations identified by whole exome sequencing in a norwegian family with autosomal recessive spastic ataxia of Charlevoix-Saguenay. PLoS One (2013) 0.91

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. Mov Disord (2010) 0.91

A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy. Neuropediatrics (1987) 0.90

Erythropoietin in Friedreich ataxia: no effect on frataxin in a randomized controlled trial. Mov Disord (2012) 0.90

Posterior column ataxia with retinitis pigmentosa in a Japanese family with a novel mutation in FLVCR1. Neurogenetics (2011) 0.90

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco-Sjögren syndrome. Eur J Hum Genet (2008) 0.89

Auto-immune cerebellar ataxia with anti-GAD antibodies accompanied by de novo late-onset type 1 diabetes mellitus. Diabetes Metab (2008) 0.89

Ataxia telangiectasia mutated (ATM) inhibition transforms human mammary gland epithelial cells. J Biol Chem (2010) 0.89

An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology (2001) 0.88

Intravenous immunoglobulin therapy for autoantibody-positive cerebellar ataxia. Intern Med (2009) 0.88

Cerebellar ataxia and central nervous system whipple disease. Arch Neurol (2005) 0.88

Neuropathology of late onset gangliosidoses. A review. Dev Neurosci (1991) 0.88

Phytanic acid storage disease (Refsum's disease): clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management. J Clin Apher (1999) 0.87

Clinical, biochemical and molecular aspects of cerebellar ataxia and Coenzyme Q10 deficiency. Cerebellum (2007) 0.87

SeSAME/EAST syndrome--phenotypic variability and delayed activity of the distal convoluted tubule. Pediatr Nephrol (2012) 0.86