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Filter Applied: genetic counselling (Click to remove)

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

Clinicopath Conf, Dopamine-Responsive-Dystonia Caused by a Mutation in the GCH1 Gene
NEJM 355:831-839, Case 26-2006, 2006

Creutzfeldt-Jakob Disease and Related Transmissible Spongiform Encephalopathies
NEJM 339:1994-2004, Johnson,R.T. & Gibbs,Jr.,C.J., 1998

Clinical and Electrodignostic Features of X-Linked Recessive Bulbospinal Neuronopathy
Neurol 41:823-828, Olney,R.K.,et al, 1991

Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022

Neurological Management of Von Hippel-Lindau Disease
Neurologist 21:73-78, Hodgson, T.S.,et al, 2016

A 52-year-old Woman with Progressive Proximal Weakness
Neurol 83:e106-e109, Enduri, S.,et al, 2014

A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002

Consequences of the Delayed Diagnosis of Ataxia-Telangiectasia
Pediatrics 102:98-100, Cabana,M.D.,et al, 1998

Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998

Few Psychological Consequences of Presymptomatic Testing for Huntington Disease
Lancet 349:4, Bundey,S., 1997

Charcot-Marie-Tooth Neuropathies:From Clinical Description to Molecular Genetics
Muscle & Nerve 18:267-275995., Ionasecu,V.V., 1995

The Prevention of Neurogenetic Disease
Arch Neurol 52:356-362, 3451995., Rosenberg,R.N.&Iannaccone,S.T., 1995

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

The Psychological Consequences of Predictive Testing for Huntington's Disease
NEJM 327:1401-1405, 14491992., Wiggins,S.,et al, 1992

Mosaic Express of Dystrophin in Carriers of Becker's Muscular Dyst & X-Linked Synd of Myalgia & Cramps
NEJM 327:1100, Minetti,C.&Bonilla,E., 1992

Genetic Testing for Huntington's Disease
BMJ 300:1089-1090, Harper,P.,et al, 1990

Von Hippel-Lindau Disease Affecting 43 Members of a Single Kindred
Medicine 68:1-29, Lamiell,J.M.,et al, 1989

Predictive Testing for Huntington's Disease, Progress and Problems
BMJ 298:404-405, 1989, Harper,P.S.&Morris,M.J., 1989

Anderson-Fabray Disease, A Commonly Missed Diagnosis
BMJ 297:872-873, Morgan,S.H.&Crawfurd,M., 1988

Presymptomatic Testing for Huntington's Disease
JAMA 253:3286-3291, Bird,S.J., 1985



Showing articles 0 to 21 of 21