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Showing articles 0 to 32 of 32

Filter Applied: molecular genetics (Click to remove)

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

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

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

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

Detection of Human Herpesvirus-6 in Cerebrospinal Fluid of Patients with Encephalitis
Ann Neurol 65:257-267,235, Yao,K.,et al, 2009

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

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

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

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

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

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

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

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

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

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

Myostatin Mutation Associated with Gross Muscle Hypertrophy in a Child
NEJM 350:2682-2688,2642, Schuelke,M.,et al, 2004

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

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

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

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

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

Atypical Leber's Hereditary Optic Neuropathy with Molecular Confiramtion
Arch Neurol 50:470-473, Weiner,N.C.,et al, 1993

Leber's Hereditary Optic Neuropathy, New Genetic Considerations
Arch Neurol 50:540-548, Newman,N.J., 1993

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

Mitochondril Encephalopathies:Molecular Genetic Diagnosis from Blood Samples
Lancet 337:1311-1313, Hammans,S.R.,et al, 1991



Showing articles 0 to 32 of 32