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Showing articles 0 to 13 of 13

Filter Applied: genetic testing (Click to remove)

The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993

Niemann-Pick Disease Type C
Gene Reviews www.genereview.org, Bremova-Ertl,T. & Patterson, M., 2025

A Teenager with Persistent Headache
Neurol 92:e1526-e1531, Hu, Y.,et al, 2019

Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018

Cerebellar Ataxia and Hearing Impairment
JAMA Neurol 74:243-244, Lin, C.Y. & Kuo, S.H., 2017

Clinicopathologic Conference, MELAS (mitochondrial encephalopathy, lactic acidosis, and stroke like episodes)
NEJM 376:1668-1678, CASE 13-2017, 2017

Intractable Epilepsy and Progressive Cognitive Decline in a Young Man
JAMA Neurol 74:737-740, Cohen, A.L.,et al, 2017

Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains Difficult
Front Neurol doi.10.3398/jneur.2017.00108, Piroth,T.,et al, 2017

Psychosis in an Adolescent Girl: A Common Manifestation in Niemann-Pick Type C Disease
Child Adolesc Pych Ment Health 8:20, Wouters,S.,et al, 2014

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

Clinicopath Conf, Infantile Krabbe Disease
NEJM 362:346-356, Case 3-2010, 2010

Clinicopath Conf., Brain Abscess, Pulmonary Arteriovenous Malformation Due to Hereditary Hemorrhagic Telangiectasia
NEJM 362:1326-1333, Case 10-2010, 2010

Spectrum of Mutations in Biopsy-Proven CADASIL: Implications for Diagnostic Strategies
Arch Neurol 62:1091-1094, Peters,N.,et al, 2005



Showing articles 0 to 13 of 13