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Showing articles 0 to 18 of 18

Filter Applied: molecular genetics (Click to remove)

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

Unusual Variants of Alexander's Disease
Ann Neurol 57:327-338, van der Knaap,M.S., et al, 2005

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

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

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

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

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

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

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

Diagnostic Test for the Prader-Willi Syndrome by SNRPN Expression in Blood
Lancet 348:1068-1069, Wevrick,R.&Francke,U., 1996

Genetic Homogeneity Between Childhood-Onset and Adult-Onset Autosomal Recessive Spinal Muscular Atrophy
Lancet 346:741-742, Brahe,C.,et al, 1995

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

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



Showing articles 0 to 18 of 18