Neurogenetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 551-560 of 623 total displayed.

Past content

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]  

Original Contributions
Identification of a High Frequency of Mutation at Exon 8 of the ATP7B Gene in a Chinese Population With Wilson Disease by Fluorescent PCR

Pingyi Xu; Xiuling Liang; Joseph Jankovic; Wei-dong Le
Arch Neurol 2001; 58: 1879-1882. [Abstract] [Full text] [PDF]  

Original Contributions
Hearing Impairment Is Common in Various Phenotypes of the Mitochondrial DNA A3243G Mutation

Marcus Deschauer; Tobias Müller; Thomas Wieser; Wilhelm Schulte-Mattler; Malte Kornhuber; Stephan Zierz
Arch Neurol 2001; 58: 1885-1888. [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
A New PRNP Mutation (G131V) Associated With Gerstmann-Sträussler-Scheinker Disease

Peter K. Panegyres; Kathrine Toufexis; B. A. Kakulas; Larisa Cernevakova; P. Brown; B. Ghetti; P. Piccardo; S. R. Dlouhy
Arch Neurol 2001; 58: 1899-1902. [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]  

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