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, 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
The Hot Cross Bun Sign in the Patients with Spinocerebellar Ataxia
Eur J Neurol 16:513-516, Lee, Y.-C.,et al, 2009
A Parkinsonian Syndrome in Methcathinone Users and the Role of Manganese
NEJM 358:1009-1017, Stepens,A.,et al, 2008
JC Viral Infection-Related Cerebellar Degeneration as the First Manifestation of AIDS
Eur Neurol 59:205-207, Shin,H.-W.,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
Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005
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
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
Spinocerebellar Ataxia Type 2 Presenting as Familial Levodopa-Responsive Parkinsonism
Ann Neurol 50:812-815, Shan,D.,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
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
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
Cerebellar Degeneration Associated With Human Immunodeficiency Virus Infection
Neurol 50:244-251, Tagliati,M.,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
Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease
Arch Neurol 55:33-37, Murata,Y.,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
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)
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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
Cytomegalovirus Encephalitis
Ann Int Med 125:577-578, Arribas,J.R.,et al, 1996
Dopa-Responsive parkinsonism Phenotype of Machado-Jospeh Disease:Confirmation of 14q CAG Expansion
Ann Neurol 48:684-687, Tuite,P.J.,et al, 1995
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
Acute Lumbosacral Polyradiculopathy in Acquired Immunodeficiency Syndrome:Experience in 23 Patients
Ann Neurol 35:53-58, So,Y.T.&Olney,R.K., 1994
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
HIV Encephalopathy and Dementia
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Spinal Cord Syphilis Associated with Human Immunodeficiency Virus Infection:A Treatable Myelopathy
Am J Med 91:101-103, Berger,J.R., 1992
Ataxia-Telangiectasia:An Interdisciplinary Approach to Pathogenesis
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Effect of Sulfamethoxazole & Trimethoprim on Neurologic Dysfunction in a Patient with Joseph's Disease
Arch Neurol 45:210-213, Mello,K.A.&Abbott,B.P., 1988
Progressive Multifocal Leukoencephalopathy Associated with Human Immunodeficiency Virus Infection
Ann Int Med 107:78-87, Berger,J.R., 1987
Clinicopath. Conf
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Vacuolar Myelopathy Pathologically Resembling Subacute Combined Degeneration in Patients with AIDS
NEJM 312:874-879, Petito,C.K.,et al, 1985
Machado-Joseph-Azorean Disease
Arch Neurol 41:921-925, Fowler,H.L., 1984
Joseph Disease in a Non-Portuguese Family
Neurol 33:74-80, Sakai,T.,et al, 1983
Electro-oculographic Findings in Machado-Joseph Disease
Neurol 32:1272-1276, Dawson,D.M.,et al, 1982
Clinical Criteria for Diagnosis of Machado-Joseph Disease:Report of a Non-Azorean Portuguese Family
Neurol 30:319-322, Lima,L.,et al, 1980
Autosomal Dominant System Degeneration in Portugese Families of the Azores Islands
Neurol 28:703, Coutinho,P.,et al, 1978
Azorean Disease of the Nervous System
NEJM 296:1505, Romanul,F.C.A.,et al, 1977
Machado Disease-a Hereditary Ataxia in Portuguese Emigrants to Mass
Neurol 22:49, Nakano,K.K.,et al, 1972
A 26-Year-Old Woman with Chronic Progressive Gait Dysfunction
Neurol 103:e2098-e2030, Jones,F.J.S. & Orthmann-Murphy,J., 2024