Clinical Spectrum of Ataxia-Telangiectasia in Adulthood
Neurol 73:430-437, Verhagen,M.M.M.,et al, 2009
The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
Downbeat Nystagmus: Aetiology and Comorbidity in 117 Patients
JNNP 79:672-677, Wagner,J.N.,et al, 2008
Neurologic Manifestations of von Hippel-Lindau Disease
JAMA 300:1334-1342, Butman,J.A.,et al, 2008
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008
Prevalence of Fabry Disease in Patients with Cryptogenic Stroke: A Prospective Study
Lancet 366:1794-1796,1754, Rolfs,A.,et al, 2006
Benign Tremulous Parkinsonism
Arch Neurol 63:354-357,321, Josephs,K.A.,et al, 2006
Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006
Late-Onset Metachromatic Leukodystrophy: Genotype Strongly Influences Phenotype
Neurol 67:859-863, Rauschka,H.,et al, 2006
Clinical Spectrum of Mutations in SCN1A Gene: Severe Myoclonic Epilepsy in Infancy and Related Epilepsies
Epilepsy Res 70S:S223-S230, Fujiwara,T., 2006
Epilepsy Syndromes in Infancy
Pediatr Neurol 34:253-263, Korff,C.M. &Nordii,D.R.,Jr., 2006
Phenotypic Spectrum Associated with Mutations of the Mitochondrial Polymerase y Gene
Brain 129:1674-1684, Horvath, R.,et al, 2006
Autonomic Dysfunction in Machado-Joseph Disease
Arch Neurol 62:630-636, Yeh,T-H.,et al, 2005
Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005
The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
Neurol 64:1258-1260, Chen,D-H.,et al, 2005
Neurologic Features of Horizontal Gaze Palsy and Progressive Scoliosis with Mutations in ROBO3
Neurol 64:1196-1203, Bosley, T.M.,et al, 2005
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders
Arch Neurol 61:875-880, Smith,C.O.,et al, 2004
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Clinical Features and Neuropathology of Autosomal Dominant Spinocerebellar Ataxia (SCA17)
Ann Neurol 43:367-375, Rolfs,A.,et al, 2003
Spinocerebellar Ataxia Type 10 is Rare in Populations Other Than Mexicans
Neurol 58:983-984, Matsuura,T.,et al, 2002
Clinical Features and ATTCT Repeat Expansion in Spinocerebellar Ataxia Type 10
Arch Neurol 59:1285-1290, Grewal,R.P.,et al, 2002
Fragile X Premutation Carriers: Characteristic MR Imaging Findings of Adult Male Patients with Progressive Cerebellar and Cognitive Dysfunction.
AJNR 23:1757-1766, Brunberg,J.A.,et al, 2002
Recessive Ataxia With Ocular Apraxia
Arch Neurol 58:201-205,173, Barbot,C.,et al, 2001
SCA-12: Tremor with Cerebellar and Cortical Atrophy is Associated with a CAG Repeat Expansion
Neruol 56:299-303,287, O'Hearn,E.,et al, 2001
Genetic Testing in Spinocerebellar Ataxias
Arch Neurol 58:191-195, Tan,E. &Ashizawa,T., 2001
Gluten Sensitivity in Sporadic and Hereditary Cerebellar Ataxia
Ann Neurol 49:540-543, Bushara,K.O.,et al, 2001
Essential Tremor
NEJM 345:887-891, Louis,E.D., 2001
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
Evolution of Sporadic Olivopontocerebellar Atrophy Into Multiple System Atrophy
Neurol 55:527-532, Gilman,S. et al, 2000
Spinocerebellar Ataxia Type 8
Neurol 55:649-657, Day,J.W. et al, 2000
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
Clinical and MRI Findings in Spinocerebellar Ataxia Type 5
Neurol 53:1355-1357, Stevanin,G.,et al, 1999
Ion Channels and Neurological Disease:DNA Based Diagnosis is Now Possible,and Ion Channels May be Important in Common Paroxysmal Disorders
JNNP 65:427-431, Hanna,M.G.,et al, 1998
Progressive Atrophy of Cerebellum & Brainstem, Age & Size of Expanded CAG Repeats in the MJDI Gene in Machado-Joseph Dis
Ann Neurol 43:288-296, Onokera,O.,et al, 1998
Neuroradiologic Findings in Marinesco-Sjogren Syndrome
AJNR 19:281-283, Georgy,B.A.,et al, 1998
Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998
Wobbly Handwriting
Lancet 351:336, Rosario,M.A.F.,et al, 1998
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Clinical Usefulness of Magnetic Resonance Imaging in Multiple System Atrophy
JNNP 65:65-71, Schrag,A.,et al, 1998
CAG Repeat Number Correlates with the Rate of Brainstem and Cerebellar Atrophy in Machado-Joseph Disease
Neurol 51:882-884, Abe,Y.,et al, 1998
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
Neurol 51:1666-1671, Moseley,M.L.,et al, 1998
Adult-Onset Neimann-Pick Type C Disease, Clinical, Biochemical and Genetic Study
Arch Neurol 54:1536-1541, Lossos,A.,et al, 1997
Cerebral & Cerebellar Atrophy on Serial MRI in an Initially Symptom Free Subject at Risk of Familial Prion Disease
BMJ 315:856-857, Fox,N.C.,et al, 1997
Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997
Familial Idiopathic Brain Calcification with Autosomal Dominant Inheritance
Neurol 48:645-649, Kobari,M.,et al, 1997
Calcium Channels in Neurological Disease
Ann Neurol 42:275-282, Greenberg,D.A., 1997
The Expansion of the CAG Repeat in Ataxin-2 is a Frequent Cause of Autosomal Dominant Spinocerebellar Ataxia
Neurol 49:1009-1013, Lorenzetti,D.,et al, 1997
Spinocerebellar Ataxia Type 6, Molecular & Clin Features of 35 Japanese Pts (1 Homozygous for CAG Repeat Expan)
Neurol 49:1238-1243, 11961997., Matsumura,R.,et al, 1997
Clinical and Molecular Features of Spinocerebellar Ataxia Type 6
Neurol 49:1243-1246, 11961997., Stevanin,G.,et al, 1997