Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
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A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
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Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Huntington Disease: Clinical Features and Diagnosis
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Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
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Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
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Kennedy Disease
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Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
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GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
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Family History and DNA Analysis in Patients With Suspected Huntington's Disease
JNNP 69:54-59, Siesling,S. et al, 2000
Molecular Basis of the Neurodegenerative Disorders
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Patients with Features Similar to Huntington's Disease, Without CAG Expansion in Huntingtin
Neurol 51:215-220, Rosenblatt,A.,et al, 1998
Incidence of Dominant Spinocerebellar and Friedreich Triplet Repeats Among 361 Ataxic Families
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Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
Spinobulbar Muscular Atrophy Can Mimic ALS:The Importance of Genetic Testing in Male Patients with Atypical ALS
Neurol 49:568-572, Parboosingh,J.S.,et al, 1997
Genetic Testing of Children at Risk for Huntington's Disease
Neurol 49:1048-1053, Nance,M.A.,et al, 1997
Friedreich's Ataxia GAA Repeat Expansion in Pts with Recessive or sporadic Ataxia
Neurol 49:1004-1009, Geschwind,D.H.,et al, 1997
Diagnosis of Patients Presenting to a Huntington Disease (HD) Clinic without a Family History of HD
Neurol 47:1578-1580, Nance,M.A.,et al, 1996
Hereditary Late-Onset Chorea Without Significant Dementia:Genetic Evid for Phenotypic Variation in Huntington's Disease
Neurol 45:443-447, Britton,J.W.,et al, 1995
Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994
Advances in Molecular Analysis of Fragile X Syndrome
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Mutation Analysis in Patients with Possible but Apparently Sporadic Huntington's Disease
Lancet 344:714-717, Davis,M.B.,et al, 1994
Trinucleotide Repeat Expansion in Neurological Disease
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Myotonic Dystrophy
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Clinical Consequences of Isolating the Gene for Huntington's Disease
BMJ 307:397-398, Harper,P.S., 1993
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
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
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