Spinocerebellar Ataxia Type 2: Clinicogenetic Aspects, Mechanistic Insights, and Management Approaches
Front Neurol doi:10.3389/fneur.2017.00472, Velazquez-Perez, L.C.,et al, 2017
The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2
Arch Neurol 61:35-38, Lu,C.,et al, 2004
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,et al, 2001
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
Neurol 51:1666-1671, Moseley,M.L.,et al, 1998
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
A 50-Year-Old Man with Ataxia, Dystonia, and Abnormal Ocular Movements
Neurol 103:e210046, Panigrahi,B.,et al, 2024
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
Clinicopathologic Conference, HIV Type 2 Infection & Cerebral Toxoplasmosis
NEJM 383:859-866, Case 27-2020, 2020
Neurosyphilis
NEJM 381:1358-1363, Ropper, A.H.,et al, 2019
A 52-year-old woman with a 3 weeks of progressive gait ataxia and dysarthria
Neurol 90:e985-e989, Ly, C.,et al, 2018
Progressive Gait Difficulty and Incontinence in a 40-year-old Man with HIV
Neurol 91:1065-1070, Silverman, A.,et al, 2018
A 46-year-old man with Persistent Hiccups, Cognitive Dysfunction, and Imbalance
Neurol 89:e193-e196, Lamb, C.J.,et al, 2017
Choreoathetosis, Dystonia, and Myoclonus in 3 Siblings with Autosomal Recessive Spinocerebellar Ataxia Type 16
JAMA Neurol 73:888-890, Kawarai, T.,et al, 2016
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
Degenerative Diseases of the Nervous System, Multiple System Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1095, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Olivopontocerebellar Atrophy
Adams & Victors Principles of Neurology, Chp 39, pg 1106, Ropper, A.H.,et al, 2014
Degenerative Diseases of the Nervous System, Machado-Joseph-Azorean Disease
Adams & Victors Principles of Neurology, Chp 39, pg 1107, Ropper, A.H.,et al, 2014
Bilateral Cerebellar Peduncle Lesions in JC Virus Encephalitis
IJID 17:e1086-e1087, , 2013
Adult-Onset Opsoclonus-Myoclonus Syndrome
Arch Neurol 69:1598-1607, Klaas, J.,et al, 2012
JC Viral Infection-Related Cerebellar Degeneration as the First Manifestation of AIDS
Eur Neurol 59:205-207, Shin,H.-W.,et al, 2008
A Parkinsonian Syndrome in Methcathinone Users and the Role of Manganese
NEJM 358:1009-1017, Stepens,A.,et al, 2008
Chronic Pain in Machado-Joseph Disease: A Frequent and Disabling Symptom
Arch Neurol 64:1767-1770, Fran�a,M.C. Jr., et al, 2007
The Clinical and Genetic Spectrum of Spinocerebellar Ataxia 14
Neurol 64:1258-1260, Chen,D-H.,et al, 2005
Autonomic Dysfunction in Machado-Joseph Disease
Arch Neurol 62:630-636, Yeh,T-H.,et al, 2005
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
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
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
Evolution of Sporadic Olivopontocerebellar Atrophy Into Multiple System Atrophy
Neurol 55:527-532, Gilman,S. et al, 2000
Cardiac Dysfunction in Neuromuscular Diseases
The Neurologist 6:67-82, Pourmand,R., 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
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
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
Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease
Arch Neurol 55:33-37, Murata,Y.,et al, 1998
Cerebellar Degeneration Associated With Human Immunodeficiency Virus Infection
Neurol 50:244-251, Tagliati,M.,et al, 1998
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
Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
NEurol 49:1247-1251, Geschwind,D.H.,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
Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996
Machado Joseph Disease Maps to Same Region of Chromosome 14 as Spinocerebellar Ataxia Type 3 Locus
J Med Genet 32:25-31, Twist,E.C.,et al, 1995
Clinicopathological Study of 35 Cases of Multiple System Atrophy
JNNP 58:160-166, Wenning,G.K.,et al, 1995
Clinical, Neuropath & Genetic Studies of Large Spinocerebellar Ataxia Type 1 (SCA1) Kindred: (CAG) n Early Premonitory Signs & Symp
Neurol 45:24-30, Genis,D.,et al, 1995