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Genetic Disorders

Citations 311-320 of 396 total displayed.

Past content (since Jan 1998):

Original Contributions
Improvement in the Molecular Diagnosis of Machado-Joseph Disease
Patrícia Maciel; Maria do Carmo Costa; Anabela Ferro; Marylène Rousseau; Cláudia Sofia Santos; Claudia Gaspar; José Barros; Guy A. Rouleau; Paula Coutinho; Jorge Sequeiros
Arch Neurol 2001; 58: 1821-1827. [Abstract] [Full text] [PDF]  

Original Contributions
Impact of DNA Testing for Early-Onset Familial Alzheimer Disease and Frontotemporal Dementia
Ellen J. Steinbart; Corrine O. Smith; Parvoneh Poorkaj; Thomas D. Bird
Arch Neurol 2001; 58: 1828-1831. [Abstract] [Full text] [PDF]  

Original Contributions
Clinical and Molecular Correlations in Spinocerebellar Ataxia Type 6: A Study of 24 Dutch Families
Richard J. Sinke; Elly F. Ippel; Conny M. Diepstraten; Frits A. Beemer; John H. J. Wokke; Bob J. van Hilten; Nine V. A. M. Knoers; Hans Kristian Ploos van Amstel; H. P. H. Kremer
Arch Neurol 2001; 58: 1839-1844. [Abstract] [Full text] [PDF]  

Original Contributions
Genetic and Clinical Analysis of Spinocerebellar Ataxia Type 8 Repeat Expansion in Italy
Elena Cellini; Benedetta Nacmias; Paolo Forleo; Silvia Piacentini; Bianca Maria Guarnieri; Antonio Serio; Antonio Calabrò; Daniela Renzi; Sandro Sorbi
Arch Neurol 2001; 58: 1856-1859. [Abstract] [Full text] [PDF]  

Original Contributions
TAU as a Susceptibility Gene for Amyotropic Lateral Sclerosis–Parkinsonism Dementia Complex of Guam
Parvoneh Poorkaj; Debby Tsuang; Ellen Wijsman; Ellen Steinbart; Ralph M. Garruto; Ulla-Katrina Craig; Nicola H. Chapman; Leojean Anderson; Thomas D. Bird; Chris C. Plato; Daniel P. Perl; Wigbert Weiderholt; Douglas Galasko; Gerard D. Schellenberg
Arch Neurol 2001; 58: 1871-1878. [Abstract] [Full text] [PDF]  

Observations
Clinical and Molecular Studies in a Family With Probable X-linked Dominant Charcot-Marie-Tooth Disease Involving the Central Nervous System
Fuki M. Hisama; Helen H. Lee; Amy Vashlishan; Poornima Tekumalla; David S. Russell; Elizabeth Auld; Jonathan M. Goldstein
Arch Neurol 2001; 58: 1891-1896. [Abstract] [Full text] [PDF]  

Observations
Dentatorubropallidoluysian Atrophy in Chinese
I-Hui Lee; Bing-Wen Soong; Yi-Chun Lu; Yue-Cune Chang
Arch Neurol 2001; 58: 1905-1908. [Abstract] [Full text] [PDF]  

Observations
A Case of Familial Amyloid Polyneuropathy Homozygous for the Transthyretin Val30Met Gene With Motor-Dominant Sensorimotor Polyneuropathy and Unusual Sural Nerve Pathological Findings
Akira Yoshioka; Yoko Yamaya; Shinji Saiki; Genjiro Hirose; Kohei Shimazaki; Masaaki Nakamura; Yukio Ando
Arch Neurol 2001; 58: 1914-1918. [Abstract] [Full text] [PDF]  

Original Contributions
Mild Tremor in Relatives of Patients With Essential Tremor: What Does This Tell Us About the Penetrance of the Disease?
Elan D. Louis; Blair Ford; Steven Frucht; Ruth Ottman
Arch Neurol 2001; 58: 1584-1589. [Abstract] [Full text] [PDF]  

Original Contributions
Hereditary Neuropathy With Liability to Pressure Palsies Is Not a Major Cause of Idiopathic Carpal Tunnel Syndrome
David W. Stockton; Ricardo A. Meade; David T. Netscher; Michael J. Epstein; Saleh M. Shenaq; Lisa G. Shaffer; James R. Lupski
Arch Neurol 2001; 58: 1635-1637. [Abstract] [Full text] [PDF]  

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