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Genetic Disorders

Citations 191-200 of 396 total displayed.

Past content (since Jan 1998):

Basic Science Seminars in Neurology
Polyglutamine Diseases and Transport Problems: Deadly Traffic Jams on Neuronal Highways
Shermali Gunawardena; Lawrence S. B. Goldstein
Arch Neurol 2005; 62: 46-51. [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]  

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]  

Original Contributions
Genome-Wide Analysis of the Parkinsonism-Dementia Complex of Guam
Huw R. Morris; John C. Steele; Richard Crook; Fabienne Wavrant-De Vrièze; Luisa Onstead-Cardinale; Katrina Gwinn-Hardy; Nick W. Wood; Matthew Farrer; Andrew J. Lees; P. L. McGeer; Teepu Siddique; John Hardy; Jordi Perez-Tur
Arch Neurol 2004; 61: 1889-1897. [Abstract] [Full text] [PDF]  

Original Contributions
APOE Genotype, Family History of Dementia, and Alzheimer Disease Risk: A 6-Year Follow-up Study
Wenyong Huang; Chengxuan Qiu; Eva von Strauss; Bengt Winblad; Laura Fratiglioni
Arch Neurol 2004; 61: 1930-1934. [Abstract] [Full text] [PDF]  

Editorials
Tales From the Neural Genome: The Lessons of Homozygous Porphyria
Golder N. Wilson
Arch Neurol 2004; 61: 1650-1651. [Extract] [Full text] [PDF]  

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