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Neurogenetics

Citations 311-320 of 574 total displayed.

Past content (since May 1998):

Observations
Adult Onset Metachromatic Leukodystrophy Without Electroclinical Peripheral Nervous System Involvement: A New Mutation in the ARSA Gene
Ana M. Marcão; Roland Wiest; Kaspar Schindler; Ulrich Wiesmann; Joachim Weis; Gerhard Schroth; Maria Clara S. Miranda; Matthias Sturzenegger; Volkmar Gieselmann
Arch Neurol 2005; 62: 309-313. [Abstract] [Full text] [PDF]  

Observations
Two Novel CACNA1A Gene Mutations Associated With Episodic Ataxia Type 2 and Interictal Dystonia
Sian D. Spacey; Luke A. Materek; Blajez I. Szczygielski; Thomas D. Bird
Arch Neurol 2005; 62: 314-316. [Abstract] [Full text] [PDF]  

Neurological Reviews
Muscle Carnitine Palmitoyltransferase II Deficiency: Clinical and Molecular Genetic Features and Diagnostic Aspects
Marcus Deschauer; Thomas Wieser; Stephan Zierz
Arch Neurol 2005; 62: 37-41. [Abstract] [Full text] [PDF]  

Original Contributions
A Rare Truncating Mutation in ADH1C (G78Stop) Shows Significant Association With Parkinson Disease in a Large International Sample
Silvia Buervenich; Andrea Carmine; Dagmar Galter; Haydeh N. Shahabi; Bo Johnels; Björn Holmberg; Jarl Ahlberg; Hans Nissbrandt; Johanna Eerola; Olli Hellström; Pentti J. Tienari; Tohru Matsuura; Tetsuo Ashizawa; Ullrich Wüllner; Thomas Klockgether; Alexander Zimprich; Thomas Gasser; Melissa Hanson; Shamaila Waseem; Andrew Singleton; Francis J. McMahon; Maria Anvret; Olof Sydow; Lars Olson
Arch Neurol 2005; 62: 74-78. [Abstract] [Full text] [PDF]  

Original Contributions
Parkin Mutations and Early-Onset Parkinsonism in a Taiwanese Cohort
Ruey-Meei Wu; Rebecca Bounds; Sarah Lincoln; Mary Hulihan; Chin-Hsien Lin; Wuh-Liang Hwu; Judy Chen; Katrina Gwinn-Hardy; Matt Farrer
Arch Neurol 2005; 62: 82-87. [Abstract] [Full text] [PDF]  

Original Contributions
Failure to Find {alpha}-Synuclein Gene Dosage Changes in 190 Patients With Familial Parkinson Disease
Suzana Gispert; Claudia Trenkwalder; Luisa Mota-Vieira; Vladimir Kostic; Georg Auburger
Arch Neurol 2005; 62: 96-98. [Abstract] [Full text] [PDF]  

Original Contributions
A Clinical, Magnetic Resonance Imaging, and Survival Motor Neuron Gene Deletion Study of Hirayama Disease
U. K. Misra; J. Kalita; V. N. Mishra; A. Kesari; B. Mittal
Arch Neurol 2005; 62: 120-123. [Abstract] [Full text] [PDF]  

Observations
Familial Periodic Paralysis and Charcot-Marie-Tooth Disease in a 7-Generation Family
Fuki M. Hisama
Arch Neurol 2005; 62: 135-138. [Abstract] [Full text] [PDF]  

Letters to the Editor
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders: Where is the Evidence?—Reply
Corrine O. Smith; Hillary P. Lipe; Thomas D. Bird
Arch Neurol 2005; 62: 164-a. [Extract] [Full text] [PDF]  

Letters to the Editor
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders: Where is the Evidence?
A. Cecile J. W. Janssens
Arch Neurol 2005; 62: 164. [Extract] [Full text] [PDF]  

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