Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993
GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Huntingtons Disease
BMJ 341:34-40, Novak,M.J. &Tabrizi,S.J., 2010
Fragile X-Associated Tremor/Ataxia Syndrome: An Aging Face of the Fragile X Gene
Arch Neurol 65:19-25, Amiri,K.,et al, 2008
Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004
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
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
Machado-Joseph Disease in 4 Chinese Pedigrees:Molecular Analysis of 15 Pts
Neurol 48:482-485, Zhou,Y.X.,et al, 1997
Autosomal Dominant Cerebellar Phenotypes:The Genotype has Settled the Issue
Neurol 45:1-5, Rosenberg,R.N., 1995
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
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