GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy
Ann Neurol 86:962-968,809, Okubo, M.,et al, 2019
Huntington Disease: Clinical Features and Diagnosis
UptoDate Dec 2017, Oksana Suchowersky, 2017
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
A 28-Year-Old Woman with Vision Loss and an Unusual Gait
Neurol 97:e1860-e1865, Dohlman, J.C.,et al, 2021
A 40-year old Woman with Difficulty Going Down Stairs in High-Heeled Shoes
Ann Neurol 77:1-7, Scripko, P.,et al, 2015
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
Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999
Dentatorubral-Pallidoluysian Atrophy:Clin Features Closely Related to Unstable Expansion of Trinucleotide (CAG) Repeat
Ann Neurol 37:769-775, Ikeuchi,T.,et al, 1995
Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,et al, 1994
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
A 48-Year-Old Man With Spasticity and Progressive Ataxia
Neurol 101:e1747-e1752, Vizcarra,J.A.,et al, 2023
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
Persistent Respiratory Failure Following Cardiac Arrest
Neurol 90:e2174-e2178, Fullam, T. & Sladky, J.H., 2018
Gradually Progressive Spastic Ataxia in a Young Man Steadily Unsteady
JAMA Neurol 74:238-241, Dubey, D.,et al, 2017
Brugada Syndrome in Spinal and Bulbar Muscular Atrophy
Neurol 82:1813-1821, Araki, A.,et al, 2014
Degenerative Diseases of the Nervous System, Kennedy Syndrome (X-Linked Bulbospinal Muscular Atrophy)
Adams & Victors Principles of Neurology, Chp 39, pg 1119, Ropper, A.H.,et al, 2014
The Association of CAG Repeat Length with Clinical Progression in Huntington Disease
Neurol 66:1016-1020, Rosenblatt,A.,et al, 2006
Kennedy Disease
Arch Neurol 60:893-894, Paparounas,K.,et al, 2003
Oculopharyngeal Muscular Dystrophy in Hispanic New Mexicans
JAMA 286:2437-2440, Becher,M.W.,et al, 2001
GCG Genetic Expansions in Italian Patients with Oculopharyngeal Muscular Dystrophy
Neurol 54:608-614, Mirabella,M.,et al, 2000
New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000
Family History and DNA Analysis in Patients With Suspected Huntington's Disease
JNNP 69:54-59, Siesling,S. et al, 2000
iH NMR Spectroscopy Studies of Huntington's Disease, Correlations with CAG Repeat Numbers
Neurol 50:1357-1365, Jenkins,B.G.,et al, 1998
Patients with Features Similar to Huntington's Disease, Without CAG Expansion in Huntingtin
Neurol 51:215-220, Rosenblatt,A.,et al, 1998
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997
CAG Repeat Number Governs the Development Rate of Pathology in Huntington's Disease
Ann Neurol 41:689-692, Penney,J.B.,et al, 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
Spinocerebellar Ataxia Type 6, Frequency of the Mutation & Genotype-Phenotype Correl
NEurol 49:1247-1251, Geschwind,D.H.,et al, 1997
Genetic Testing of Children at Risk for Huntington's Disease
Neurol 49:1048-1053, Nance,M.A.,et al, 1997
Relationship Between Trinucleotide Repeats and Neuropathological Changes in Huntington's Disease
Ann Neurol 39:132-136, Furtado,S.,et al, 1996
Trinucleotide Repeat Length and Clinical Progression in Huntington's Disease
Neurol 46:527-531, Brandt,J.,et al, 1996
Psychiatric Symptoms Do Not Correlate with Cognitive Decline, Motor Sympt or CAG Repeat Length in Huntington's
Arch Neurol 53:493-497, Zappacosta,B.,et al, 1996
Motor Changes in Presymptomatic Huntington Disease Gene Carriers
Arch Neurol 53:487-492, Siemers,E.,et al, 1996
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, 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
Proximal Myotonic Myopathy, Clin Features of Disorder Similar to Myotonic Dystrophy
Arch Neurol 52:25-31, Ricker,K.,et al, 1995
Correlations Between Triplet Repeat Expansion and Clinical Features in Huntington's Disease
Arch Neurol 113:749-753, Claes,S.,et al, 1995
Cardiac Involvement in a Large Kindred with Myotonic Dystrophy:Quant Assess & Relation to Size of CTG Repeat Expansion
JAMA 274:813-819, Tokgozoglu,L.S.,et al, 1995
The Neurogenetic Genie:Testing for Huntington's Disease Mutation
Neurol 44:1369-1373, 1533-15361994., Hersch,S.,et al, 1994
CAG Repeat Size and Clinical Presentation in Huntington's Disease
Neurol 44:1137-1143, Ashizawa,T.,et al, 1994
A Worldwide Study of the Huntington's Disease Mutation, The Sensitivity & Specificity of Measuring CAG Repeats
NEJM 330:1401-1406, 14501994., Kremer,B.,et al, 1994
Trinucleotide Repeat Length and Rate of Progression of Huntington's Disease
Ann Neurol 36:630-635, Illarioshkin,S.N.,et al, 1994
Mutation Analysis in Patients with Possible but Apparently Sporadic Huntington's Disease
Lancet 344:714-717, Davis,M.B.,et al, 1994
Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994