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Filter Applied: molecular genetics (Click to remove)

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

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

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

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

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

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

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

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

Dystonia in Children and Adolescents: A Systematic Review and a New Diagnostic Algorithm
JNNP 86:774-781, Van Egmond, M.E.,et al, 2015

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

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

Diagnosis and New Treatment in Muscle Channelopathies
JNNP 80:360-365, Meola,G.,et al, 2009

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

Spinal Muscular Atrophy
Lancet 371:2120-2133, Lunn,M.R. &Wang,C.H., 2008

Diagnosis and Etiology of Congenital Muscular Dystrophy
Neurol 71:312-321,308, Peat,R.A.,et al., 2008

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

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

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

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

Clinical and Molecular Findings in Patients with Giant Axonal Neuropathy (GAN)
Neurol 62:13-16, Bruno,C.,et al, 2004

Aromatic L-Amino Acid Decarboxylase Deficiency
Neurol 62:1058-1065, Pons,R.,et al, 2004

Gene Transfer for Neurologic Disease
Neurol 63:2225-2232, Mendell,J.R. &Miller,A., 2004

Practice Parameter: Evaluation of the Child with Global Developmental Delay
Neurol 60:367-380, Shevell,M.,et al, 2003

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

Alzheimer's Disease and Parkinson's Disease
NEJM 348:1356-1364, Nussbaum,R.L. &Ellis,C.E., 2003

von Hippel-Lindau Disease
Lancet 361:2059-2067, Lonser,R.R.,et al, 2003

The Hereditary Spastic Paraplegias
Arch Neurol 60:1045-1049, Fink,J.K., 2003

Alzheimer Disease
JAMA 287:2335-2338, Cummings,J.L. &Cole,G., 2002

Sickle Cell Disease: The Neurological Complications
Ann Neurol 51:543-552, Prengler,M.,et al, 2002

Gliomatosis Cerebri: Molecular Pathology and Clinical Course
Ann Neurol 52:390-399,389, Herrlinger,U.,et al, 2002

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

Impact of the Human Genome Projects and Identification of a Stroke Gene
Stroke 32:1239-1241, Alberts,M.J., 2001

Clinical and Genetic Aspects of Distal Myopathies
Muscle Nerve 24:1440-1450, Saperstein,D.S.,et al, 2001

The Brain Code in Health and Disease
Arch Neurol 57:50-51, Rosenberg,R.N., 2000

New Nomenclature and DNA Testing Guidelines for Myotonic Dystrophy Type 1 (DM1)
Neurol 54:1218-1221, The International Myotonic Dystrophy Consortium (I, 2000

Hereditary Spastic Paraparesis: A Review of New Developments
JNNP 69:150-160, McDermott,C.J. et al, 2000

What Level of Care for the Neurofibromatoses?
Lancet 353:1114-1116, Huson,S.M., 1999

Molecular Basis of the Neurodegenerative Disorders
NEJM 340:1970-1980, Martin,J.B., 1999

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

Distal Myopathies:Clinical and Molecular Diagnosis and Classification
JNNP 67:703-709, Mastaglia,F.J.&Laing,N.G., 1999

Indications and Value of Nerve Biopsy
Muscle & Nerve 22:1617-1619, Said,G., 1999

The Genetics of Alzheimer Disease, Current Status and Future Prospects
Arch Neurol 55:294-296, Blacker,D.&Tanzi,R.E., 1998

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

The Human Genome Project,Application in the Diagnosis and Treatment of Neurologic Diseases
Arch Neurol 55:1287-1290, Evans,G.A., 1998

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

The Diagnostic Evaluation & Multidisciplinary Management of Neurofibromatosis 1 and Neurofibromatosis 2
JAMA 278:51-57, Gutmann,D.H.,et al, 1997



Showing articles 0 to 50 of 77 Next >>