SPG7 Mutations Explain a Significant Proportion of French Canadian Spastic Ataxia Cases
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Degenerative Diseases of the Nervous System, Friedreich Ataxia
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Degenerative Diseases of the Nervous System, Cerebellar Degeneration
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Diseases of the Nervous System Caused by Nutritional Deficiency, Vitamin E Deficiency
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Copper Deficiency
BMJ 348:g3691, Chhetri, S.K.,et al, 2014
Neuronal Intranuclear Inclusion Disease Cases with Leukoencephalopathy Diagnosed via Skin Biopsy
JNNP 85:354-356, Sone, J.,et al, 2014
Subacute Sclerosing Panencephalitis
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Bilateral Cerebellar Peduncle Lesions in JC Virus Encephalitis
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Adult-Onset Opsoclonus-Myoclonus Syndrome
Arch Neurol 69:1598-1607, Klaas, J.,et al, 2012
The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012
Skin biopsy is useful for the antemortem diagnosis of neuronal intranuclear inclusion disease
Neurol 76:1372-1376, Sone, J.,et al, 2011
JC Viral Infection-Related Cerebellar Degeneration as the First Manifestation of AIDS
Eur Neurol 59:205-207, Shin,H.-W.,et al, 2008
Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008
A Parkinsonian Syndrome in Methcathinone Users and the Role of Manganese
NEJM 358:1009-1017, Stepens,A.,et al, 2008
Neurological,Cardiological,and Oculomotor Progression in 104 Patients with Freidreich Ataxia During Long-Term Follow-Up
Arch Neurol 64:558-564, Rabai,P.,et al, 2007
Fragile X Premutation With Atypical Symptoms at Onset
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Late-Onset Friedreich Ataxia
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Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
Friedreich Ataxia
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Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001
Genetic Testing in Spinocerebellar Ataxias
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Increased Levels of Plasma Malondialdehyde in Friedreich Ataxia
Neurol 55:1752-1753,1600, Emond,M.,et al, 2000
Clinicopath Conf,Cerebral Amyloid Angiogpathy and Giant-Cell Inflammatory Reaction to Beta 4-Amyloid and Vasculitis, Case 10-2000
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Very Late-Onset Friedreich Ataxia Despite Large GAA Triplet Repeat Expansions
Arch Neurol 57:246-251, Bidichandani,S.I.,et al, 2000
Cerebellar Degeneration Associated With Human Immunodeficiency Virus Infection
Neurol 50:244-251, Tagliati,M.,et al, 1998
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Multiple-System Atrophy is Genet Distinct from Ident Inherited Causes of Spinocerebellar Degen
Neurol 49:1598-1604, Brandmann,O.,et al, 1997
Calcium Channels in Neurological Disease
Ann Neurol 42:275-282, Greenberg,D.A., 1997
Friedreich's Ataxia GAA Repeat Expansion in Pts with Recessive or sporadic Ataxia
Neurol 49:1004-1009, Geschwind,D.H.,et al, 1997
Broadened Friedreich's Ataxia Phenotype after Gene Cloning, Minimal GAA Expan Causes Late Spastic Ataxia
Neurol 49:1617-1620, Ragno,M.,et al, 1997
Atrophy of Cerebellum & Brainstem in Dentatorubral Pallidoluysian Atrophy, CAG Repeat Size on MRI Findings
Neurol 49:1605-1612, Koide,R.,et al, 1997
Phenotypic Variability in Friedreich Ataxia:Role of the Associated GAA Triplet Repeat Expansion
Ann Neurol 41:675-682, Montermini,L.,et al, 1997
Frataxin Gene of Friedreich's Ataxia is Targeted to Mitochondria
Ann Neurol 42:265-269, Priller,J.,et al, 1997
Isolated Vitamin E Deficiency
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Age on Onset, Sex, & Cardiomyopathy as Predictors of Disability and Survival in Friedreich's Disease
Neurol 47:1260-1264, DeMichele,G.,et al, 1996
Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996
Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996
The Inherited Ataxias and the New Genetics
JNNP 61:327-332, Hammans,S.R., 1996
Levorotatory Form of 5-Hydroxytryptophan in Friedreich's Ataxia
Arch Neurol 52:456-460, Trouillas,P.,et al, 1995
Adult-Onset Spinocerebellar Dysfunction Caused by a Mutation in the Gene for the a-Tocopherol-Transfer Protein
NEJM 333:1313-1318, 13511995., Gotoda,T.,et al, 1995
Spinocerebellar Ataxias and Ataxins
NEJM 333:1351-1353, Rosenberg,R.N., 1995
Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Acute Lumbosacral Polyradiculopathy in Acquired Immunodeficiency Syndrome:Experience in 23 Patients
Ann Neurol 35:53-58, So,Y.T.&Olney,R.K., 1994
Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
Ann Neurol 36:630-635, Illarioshkin,S.N.,et al, 1994
Friedreich's Ataxia:MR Findings Involving the Cervical Portion of the Spinal Cord
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Structural and Functional Brain Imaging in Friedreich's Ataxia
Arch Neurol 51:349-355, Junck,L.,et al, 1994
The Neurologic Syndrome of Vitamin E Deficiency:A Significant Cause of Ataxia
Neurol 43:2167-2169, Kayden,H.J., 1993
Spastic Ataxia Associated with Human T-Cell Lymphotropic Virus Type II Infection
Ann Neurol 33:411-414, Harrington,W.J.,et al, 1993
Late-Onset Friedreich's Ataxia, Molecular Genetics, Clinical Neurophysiology, and Magnetic Resonance Imaging
Arch Neurol 50:803-806, Klockgether,T.,et al, 1993