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Showing articles 0 to 35 of 35

Filter Applied: molecular genetics (Click to remove)

Mitochondrial DNA Polymerase-y and Human Disease
Hum Mol Genet 15:R244-R252, Hudson, G.,et al, 2006

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

Hereditary Hemorrhagic Telangiectasia
NEJM 333:918-924, Guttmacher,A.E.,et al, 1995

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

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

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

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

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

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

LMNA Cardiomyopathy:Cell Biology and Genetics Meet Clinical Medicine
Disease Models & Mechanisms 4:562-568, Lu,J.T., et al, 2011

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

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

Primary Anaplastic Large Cell Lymphoma of the Central Nervous System
Am J Surg Pathol 27:487-493, George, D.H.,et al, 2003

CSF Evaluation in Primary CNS Lymphoma Patients by PCR of the CDR III IgH Genes
Neurol 58:390-396,339, Gleissner,B.,et al, 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

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

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

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

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

Trinucleotide Repeat Expansion in Neurological Disease
Ann Neurol 36:814-822, LaSpada,A.R.,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

The Nondystrophic Myotonias
In Myology, McGraw-Hill, 2nd Ed, Ch49, p1291-13024., Rudel,R.,et al, 1994

The DNA Laboratory and Neurolgoical Practice
JNNP 56:229-233, Harding,A., 1993

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

Progr Myoclonus Epilepsy of Unverricht-Lundborg Type:Clin & Molecular Genetic Study from US 4 Affected Sibs
Neurol 43:2284-2286, Lehesjoki,A.E.,et al, 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

Clinicopath Conf
Emery-Dreifus Muscular Dystrophy, NEJM 327:548-5571992., , 1992

More Bad Luck for the X Chromosome:Thalassaemia/Mental Retardation
Lancet 338:1562-1563, , 1991



Showing articles 0 to 35 of 35