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Filter Applied: molecular genetics (Click to remove)

Canavan Disease:From Spongy Degeneration to Molecular Analysis
J Pediatr 127:511-517, Matalon,R.,et al, 1995

Miller-Dieker Syndrome:Detection of a Cryptic Chromosome Translocation Using in Situ Hybridization in a Family
Am J Dis Child 147:1291-1294, Alvarado,M.,et al, 1993

Causal Heterogeneity in Isolated Lissencephaly
Neurol 42:1375-1388, Dobyns,W.B.,et al, 1992

Zika Virus Associated with Microcephaly
NEJM 374: DOI:10.1056/NEJMoa1600651, Mlakar, J.,et al, 2016

Clinical Reasoning: Encephalopathy in a 10-year-old boy
Neurol 79:e12-e18, Rodan, L. & Tein, I., 2012

The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006

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

Mitochondrial DNA and Disease
NEJM 333:638-644, Johns,D.R., 1995

Lissencephaly:A Human Brain Malformation Associated with Deletion of the LIS1 Gene Located at Chromosome 17p13
JAMA 270:2838-2842, Dobyns,W.B.,et al, 1993

Primary Brain Tumours in Adults
Lancet 402:1564-1579, van den Bent,M.,et al, 2023

Molecular Diagnostic Yield of Exome Sequencing in Patients with Cerebral Palsy
JAMA 325:467-475, Moreno-De-Luca, A.,et al, 2021

Muscular Dystrophies
Lancet 394:2025-2038, Mercuri, E.,et al, 2019

Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014

Intracranial Neoplasms and Paraneoplastic Disorders
Adams & Victors Principles of Neurology, Chp 31, pg 639, Ropper, A.H.,et al, 2014

Neurofibromatosis Type 2
Lancet 373:1974-1986, Astagiri,A.R.,et al, 2009

A 23-Year-Old Man With Seizures and Visual Deficit
Neurol 70:73-78, Boustany,R.-M.,et al, 2008

Von Recklinghausen's Neurofibromatosis: Neurofibromatosis Type 1
Lancet 361:1552-1554, Reynolds,R.M., et al, 2003

New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999

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

The Muscular Dystrophies
BMJ 317:991-995, Emery,A.E.H., 1998

Investigation of Muscle Disease
JNNP 60:256-274, Mastaglia,F.L.&Laing,N.G., 1996

Clinical and Genetic Abnormalities in Patients with Friedreich's Ataxia
NEJM 335:1169-1175, 12221996., Durr,A.,et al, 1996

Presymptomatic Diagnosis of Neurofibromatosis 2 Using Linked Genetic Markers, Neuroimging, and Ocular Examinations
Neurol 47:1269-1277, Baser,M.E., 1996

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,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
552, Warren,W.T.&Nelson,D.L.JAMA 271:536-553, 1994

Myotonic Dystrophy
In Myology, Engel & Franzini-Armstrong, McGraw-Hill, Inc, New York V2, Ch 43, P1192, Harper,P.S.&Rudel,R., 1994

Molecular Genetics in Neurology
Ann Neurol 34:757-773, Martin,J.B., 1993

Wilson Disease
Medicine 71:139-164, Brewer,G.J.&Yuzbasiyan-Gurkan,V., 1992

The First Decade of Molecular Genetics in Neurology:Changing Clinical Thought and Practice
Ann Neurol 32:207-214, Rowland,L.P., 1992

Population Screening for Fragile X
Lancet 339:1210-1213, Turner,G.,et al, 1992

Familial Creutzfeldt-Jakob Disease (Codon 200 Mutation) with Supranuclear Palsy
Bertoni. J. M. , et al, JAMA 268:2413-2415., , 1992

Mutation of the Prion Protein in Libyan Jews with Creutzfeldt-Jakob Disease
NEJM 324:1091-1097, Hsiao,K.,et al, 1991

Prion Dementia Without Characteristic Pathology
Lancet 336:7-9, 21-221990., Collinge,J.,et al, 1990

Inherited Human Prion Diseases
Neurol 40:1820-1827, Hsiao,K.&Prusiner,S.B., 1990

Pediatric Leigh Syndrome
Ann Neurol 88:218-232, Alves, C.A.P.F.,et al, 2020

Ehlers-Danlos Syndromes
BMJ 366:I4966, Ghali, N.,et al, 2019

Clinicopathologic Conference, Oligdendroglioma II/IV with IDH1 R132H mutation and codelation of 1p and 19q
NEJM 375:2381-2389, Case 38-206, 2016

A Variegated Squirrel Bornavirus Associated with Fatal Human Encephalitis
NEJM 373:154-162, Hoffmann, B.,et al, 2015

The Autosomal Recessive Cerebellar Ataxias
NEJM 366:636-646, Anheim,M.,et al, 2012

Spinal Muscular Atrophy A Timely Review
Arch Neurol 68:979-984, Kolb, S.J.,et al, 2011

Recent Insights into Cerebral Cavernous Malformations: The Molecular Genetics of CCM
FEBS J 277:1070-1075, Riant, F.,et al, 2010

Clinical and Mutational Spectrum of Neurofibromatosis Type 1-Like Syndrome
JAMA 302:2111-2118, 2150, 2170, Messian,L.,et al, 2009

Tuberous Sclerosis
Lancet 372:657-658, Curatolo,P.,et al., 2008

Whipples Disease
NEJM 356:55-66, Fenollar,F.,et al, 2007

Outcome in Adult Low-Grade Glioma: The Impact of Prognostic Factors and Treatment
Neurol 69:1366-1373, Schiff,D.,et al, 2007

Parkinson Disease, 10 Years After Its Genetic Revolution: Multiple Clues to a Complex Disorder
Neurol 69:2093-2104, Klein,C. &Schlossmacher,M.G., 2007

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

Fragile X Premutation With Atypical Symptoms at Onset
Arch Neurol 63:1135-1138, Cellini,E.,et al, 2006



Showing articles 0 to 50 of 97 Next >>