Genetic Disorders

Citations 101-110 of 396 total displayed.

Past content (since Jan 1998):

Original Contributions
Cognitive Domain Decline in Healthy Apolipoprotein E 4 Homozygotes Before the Diagnosis of Mild Cognitive Impairment

Richard J. Caselli; Eric M. Reiman; Dona E. C. Locke; Michael L. Hutton; Joseph G. Hentz; Charlene Hoffman-Snyder; Bryan K. Woodruff; Gene E. Alexander; David Osborne
Arch Neurol 2007; 64: 1306-1311. [Abstract] [Full text] [PDF]  

Observations
Congenital Myopathy With Nemaline Rods and Cap Structures Caused by a Mutation in the -Tropomyosin Gene (TPM2)

Homa Tajsharghi; Monica Ohlsson; Christopher Lindberg; Anders Oldfors
Arch Neurol 2007; 64: 1334-1338. [Abstract] [Full text] [PDF]  

Observations
Two Novel Mitochondrial DNA Mutations in Muscle Tissue of a Patient With Limb-Girdle Myopathy

Ann Meulemans; Boel De Paepe; Jan De Bleecker; Joél Smet; Willy Lissens; Rudy Van Coster; Linda De Meirleir; Sara Seneca
Arch Neurol 2007; 64: 1339-1343. [Abstract] [Full text] [PDF]  

Observations
Neuromyelitis Optica in a Mother and Daughter

Tiffany Braley; Daniel D. Mikol
Arch Neurol 2007; 64: 1189-1192. [Abstract] [Full text] [PDF]  

Editorials
Dwindling Indications for Sural Nerve Biopsy

David E. Pleasure
Arch Neurol 2007; 64: 935-936. [Extract] [Full text] [PDF]  

Neurological Reviews
The New Neurobiology of Autism: Cortex, Connectivity, and Neuronal Organization

Nancy J. Minshew; Diane L. Williams
Arch Neurol 2007; 64: 945-950. [Abstract] [Full text] [PDF]  

Original Contributions
Clinical and Electrophysiological Features in Charcot-Marie-Tooth Disease With Mutations in the NEFL Gene

Gabriel Miltenberger-Miltenyi; Andreas R. Janecke; Julia V. Wanschitz; Vincent Timmerman; Christian Windpassinger; Michaela Auer-Grumbach; Wolfgang N. Löscher
Arch Neurol 2007; 64: 966-970. [Abstract] [Full text] [PDF]  

Original Contributions
Stoichiometric Alteration of PMP22 Protein Determines the Phenotype of Hereditary Neuropathy With Liability to Pressure Palsies

Jun Li; Khaled Ghandour; Danijela Radovanovic; Rosemary R. Shy; Karen M. Krajewski; Michael E. Shy; Garth A. Nicholson
Arch Neurol 2007; 64: 974-978. [Abstract] [Full text] [PDF]  

Original Contributions
Screen for Excess FMR1 Premutation Alleles Among Males With Parkinsonism

Jeremy Kraff; Hiu-Tung Tang; Roberto Cilia; Margherita Canesi; Gianni Pezzoli; Stefano Goldwurm; Paul J. Hagerman; Flora Tassone
Arch Neurol 2007; 64: 1002-1006. [Abstract] [Full text] [PDF]  

Original Contributions
Elevated Plasma -Amyloid Peptide A₄₂ Levels, Incident Dementia, and Mortality in Down Syndrome

Nicole Schupf; Bindu Patel; Deborah Pang; Warren B. Zigman; Wayne Silverman; Pankaj D. Mehta; Richard Mayeux
Arch Neurol 2007; 64: 1007-1013. [Abstract] [Full text] [PDF]  

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