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Showing articles 0 to 11 of 11

Filter Applied: genetic screening (Click to remove)

Adrenoleukodystrophy
JAMA 294:3131-3134, Moser,H.W.,et al, 2005

Hereditary Spastic Paraplegia:From Diagnosis to Emerging Therapeutic Approaches
Lancet Neurol 18:1136-1146, Shribman,S.,et al, 2019

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts & Leukoencephalopathy (CADASIL)
UpToDate (www.uptodate.com) Aug 21, Dichgans,M.,et al., 2007

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

Penetrance of the Fragile X-Associated Tremor/Ataxia Syndrome in a Premutation Carrier Population
JAMA 291:460-469, Jacquemont,S.,et al, 2004

Clinical Spectrum of CADASIL:A Study of 7 Families
Lancet 346:934-939, Chabriat,H.,et al, 1995

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

Neurologic Crises in Hereditary Tyrosinemia
NEJM 322:432-437, Mitchell,G.,et al, 1990

Amaurotic Family Idiocy
Am J Dis Child 142:53-56, Abt,I.A., 1988

Screening for Inherited Metabolic Diseases in Adults with Neurological Disease
Lancet 1:1101, Wierzbicki,A.S.,et al, 1988

Screening for Inborn Errors of Metabolism Associated with Mental Deficiency or Neurologic Disorders or Both
NEJM 274:384, Renuart,A., 1966



Showing articles 0 to 11 of 11