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Genetic Disorders

Citations 41-50 of 396 total displayed.

Past content (since Jan 1998):

Original Contributions
Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study: Implication of Additional Loci
Joseph H. Lee; Rong Cheng; Neill Graff-Radford; Tatiana Foroud; Richard Mayeux; for the National Institute on Aging Late-Onset Alzheimer's Disease Family Study Group
Arch Neurol 2008; 65: 1518-1526. [Abstract] [Full text] [PDF]  

Neurological Reviews
Friedreich Ataxia
Massimo Pandolfo
Arch Neurol 2008; 65: 1296-1303. [Abstract] [Full text] [PDF]  

Original Contributions
Development of a High-Throughput Microarray-Based Resequencing System for Neurological Disorders and Its Application to Molecular Genetics of Amyotrophic Lateral Sclerosis
Yuji Takahashi; Naomi Seki; Hiroyuki Ishiura; Jun Mitsui; Takashi Matsukawa; Atsushi Kishino; Osamu Onodera; Masashi Aoki; Nobuyuki Shimozawa; Shigeo Murayama; Yasuto Itoyama; Yasuyuki Suzuki; Gen Sobue; Masatoyo Nishizawa; Jun Goto; Shoji Tsuji
Arch Neurol 2008; 65: 1326-1332. [Abstract] [Full text] [PDF]  

Original Contributions
Mutations of the ANG Gene in French Patients With Sporadic Amyotrophic Lateral Sclerosis
Agathe Paubel; Jeremy Violette; Maïté Amy; Julien Praline; Vincent Meininger; William Camu; Philippe Corcia; Christian R. Andres; Patrick Vourc’h; for the French Amyotrophic Lateral Sclerosis (ALS) Study Group
Arch Neurol 2008; 65: 1333-1336. [Abstract] [Full text] [PDF]  

Original Contributions
The Spectrum of Parkinsonian Manifestations Associated With Glucocerebrosidase Mutations
Ozlem Goker-Alpan; Grisel Lopez; Joseph Vithayathil; Joie Davis; Mark Hallett; Ellen Sidransky
Arch Neurol 2008; 65: 1353-1357. [Abstract] [Full text] [PDF]  

Original Contributions
Association of GSK3B With Alzheimer Disease and Frontotemporal Dementia
Barbara A. J. Schaffer; Lars Bertram; Bruce L. Miller; Kristina Mullin; Sandra Weintraub; Nancy Johnson; Eileen H. Bigio; Marsel Mesulam; Martina Wiedau-Pazos; George R. Jackson; Jeffrey L. Cummings; Rita M. Cantor; Allan I. Levey; Rudolph E. Tanzi; Daniel H. Geschwind
Arch Neurol 2008; 65: 1368-1374. [Abstract] [Full text] [PDF]  

Original Contributions
Two German Kindreds With Familial Amyotrophic Lateral Sclerosis Due to TARDBP Mutations
Peter Kühnlein; Anne-Dorte Sperfeld; Ben Vanmassenhove; Vivianna Van Deerlin; Virginia M.-Y. Lee; John Q. Trojanowski; Hans A. Kretzschmar; Albert C. Ludolph; Manuela Neumann
Arch Neurol 2008; 65: 1185-1189. [Abstract] [Full text] [PDF]  

Original Contributions
Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy
Marie-Louise Sveen; Jens Jakob Thune; Lars Køber; John Vissing
Arch Neurol 2008; 65: 1196-1201. [Abstract] [Full text] [PDF]  

Original Contributions
Hepatocerebral Form of Mitochondrial DNA Depletion Syndrome: Novel MPV17 Mutations
Antonella Spinazzola; René Santer; Orhan H. Akman; Kostas Tsiakas; Hansjoerg Schaefer; Xiaoqi Ding; Charalampos L. Karadimas; Sara Shanske; Jaya Ganesh; Salvatore Di Mauro; Massimo Zeviani
Arch Neurol 2008; 65: 1108-1113. [Abstract] [Full text] [PDF]  

Observations
Clinical and Neuropathologic Findings in a Woman With the FMR1 Premutation and Multiple Sclerosis
Claudia M. Greco; Flora Tassone; Dolores Garcia-Arocena; Nicole Tartaglia; Sarah M. Coffey; Timothy K. Vartanian; James A. Brunberg; Paul J. Hagerman; Randi J. Hagerman
Arch Neurol 2008; 65: 1114-1116. [Abstract] [Full text] [PDF]  

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