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Filter Applied: genetic counselling (Click to remove)

Absence Epilepsies With Widely Variable Onset are a Key Feature of Familial GLUT1 Deficiency
Neurol 75:432-440, Mullen,S.A., et al, 2010

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

Genetic Aspects of Alzheimer Disease
The Neurologist 15:80-86, Williamson,J.,et al, 2009

Clinicopathologic Conference, Genetic Creutzfeldt-Jakob Disease
NEJM 386;674-687, Case 5-2022, 2022

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

Progressive Myoclonic Epilepsies: A Review of Genetic and Therapeutic Aspects
Lancet Neurol 4:239-248, Shahwan, A., et al, 2005

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

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

Analysis of Prenatal and Gestational Care Given to Women with Epilepsy
Neurol 51:1039-1045, Seale,C.G.,et al, 1998

Practice Parameter,Management Issues for Women with Epilepsy (Summary Statement)
Neurol 51:944-948, Rpt of the Quality Stnds Subcmte AAN, 1998

Niemann-Pick Disease Type C from Bench to Bedside
JAMA 276:561-564, Schiffmann,R., 1996

Genetic Factors in Alzheimer's Disease:A Review of Recent Advances
Ann Neurol 40:829-840, Levy-Lahad,E.&Bird,T.D., 1996

Charcot-Marie-Tooth Disease and Related Inherited Neuropathies
Medicine 75:233-250, Murakami,T.,et al, 1996

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

Clinical Genetics in Neurological Disease
JNNP 57:7-15, MacMillan,J.C.&Harper,P.S., 1994

Duplication of Part of Chromosome 17 is Commonly Associated with HMSN Type I (Charcot-Marie-Tooth Disease Type 1)
Ann Neurol 31:570-572, Hallam,P.J.,et al, 1992

De-Novo Mutation in Hereditary Motor and Sensory Neuropathy Type I
Lancet 339:1081-1082, Hoogendijk,J.E.,et al, 1992

Lisch Nodules in Neurofibromatosis Type I
NEJM 324:1264-1266, 1283-12851991., Lubs,M-L.E.,et al, 1991

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

Molecular Genetics of Duchenne and Becker Muscular Dystrophy
J Pediatr 117:1-15, Darras,B.T., 1990

Distinction of Becker from Limb-Girdle Muscular Dystrophy by Means of Dystrophin cDNA Probes
Lancet 1:466-468, Norman,A.,et al, 1989

Diagnosis of Gerstmann-Straussler Syndrome in Familial Dementia with Prion Protein Gene Analysis
Lancet 2:15-17, Collinge,J.,et al, 1989

Molecular Biology of Duchenne and Becker's Muscular Dystrophy:Clinical Applications
Ann Neurol 26:189-194, Gutmann,D.H.&Fischbeck,K.H., 1989

Neurofibromatosis 2 (Bilateral Acoustic Neuro-fibromatosis)
NEJM 318:684-688, Martuza,R.L.&Eldridge,R., 1988

Genetic Markers for Neurofibromatosis
Editorial, Lancet 2:719-7201988., , 1988



Showing articles 0 to 25 of 25