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Genetic Disorders

Citations 171-180 of 396 total displayed.

Past content (since Jan 1998):

Original Contributions
Double Trouble in Hereditary Neuropathy: Concomitant Mutations in the PMP-22 Gene and Another Gene Produce Novel Phenotypes
Julie A. Hodapp; Gregory T. Carter; Hillary P. Lipe; Sara J. Michelson; George H. Kraft; Thomas D. Bird
Arch Neurol 2006; 63: 112-117. [Abstract] [Full text] [PDF]  

Observations
Atypical Gilles de la Tourette Syndrome With {beta}-Mannosidase Deficiency
Frédéric Sedel; Karen Friderici; Katherine Nummy; Catherine Caillaud; Allel Chabli; Alexandra Dürr; Catherine Lubetzki; Yves Agid
Arch Neurol 2006; 63: 129-131. [Abstract] [Full text] [PDF]  

Correspondence
Apolipoprotein E Genotype Modifies the Phenotype of Alzheimer Disease
Jonathan M. Schott; Basil H. Ridha; Sebastian J. Crutch; Daniel G. Healy; James B. Uphill; Elizabeth K. Warrington; Martin N. Rossor; Nick C. Fox
Arch Neurol 2006; 63: 155-156. [Extract] [Full text] [PDF]  

Original Contributions
Identification of Alzheimer Disease Risk by Functional Magnetic Resonance Imaging
Adam S. Fleisher; Wes S. Houston; Lisa T. Eyler; Susan Frye; Cecily Jenkins; Leon J. Thal; Mark W. Bondi
Arch Neurol 2005; 62: 1881-1888. [Abstract] [Full text] [PDF]  

Original Contributions
Brain Morphometry, T2-Weighted Hyperintensities, and IQ in Children With Neurofibromatosis Type 1
Robert S. Greenwood; Larry A. Tupler; J. Kenneth Whitt; Anne Buu; Carrie B. Dombeck; Amanda G. Harp; Martha E. Payne; James D. Eastwood; K. Ranga R. Krishnan; James R. MacFall
Arch Neurol 2005; 62: 1904-1908. [Abstract] [Full text] [PDF]  

Original Contributions
Implementing Diagnostic Criteria and Estimating Frequency of Mild Cognitive Impairment in an Urban Community
Jennifer J. Manly; Sandra Bell-McGinty; Ming-X. Tang; Nicole Schupf; Yaakov Stern; Richard Mayeux
Arch Neurol 2005; 62: 1739-1746. [Abstract] [Full text] [PDF]  

Original Contributions
Association Between Tau H2 Haplotype and Age at Onset in Frontotemporal Dementia
Barbara Borroni; Despina Yancopoulou; Miho Tsutsui; Alessandro Padovani; Stephen J. Sawcer; John R. Hodges; Maria Grazia Spillantini
Arch Neurol 2005; 62: 1419-1422. [Abstract] [Full text] [PDF]  

Editorials
Chaperoning Motor Neurons
David Pleasure
Arch Neurol 2005; 62: 1193. [Extract] [Full text] [PDF]  

Original Contributions
Mutation Analysis of the Small Heat Shock Protein 27 Gene in Chinese Patients With Charcot-Marie-Tooth Disease
Beisha Tang; Xiaomin Liu; Guohua Zhao; Wei Luo; Kun Xia; Qian Pan; Fang Cai; Zhengmao Hu; Cheng Zhang; Biao Chen; Fufeng Zhang; Lu Shen; Ruxu Zhang; Hong Jiang
Arch Neurol 2005; 62: 1201-1207. [Abstract] [Full text] [PDF]  

Original Contributions
Identification of a Novel Founder Mutation in the DYSF Gene Causing Clinical Variability in the Spanish Population
Juan J. Vilchez; Pia Gallano; Eduard Gallardo; Adriana Lasa; Ricardo Rojas-García; Alba Freixas; Noemí De Luna; Francesc Calafell; Teresa Sevilla; Fernando Mayordomo; Montserrat Baiget; Isabel Illa
Arch Neurol 2005; 62: 1256-1259. [Abstract] [Full text] [PDF]  

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