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Genetic Disorders

Citations 321-330 of 396 total displayed.

Past content (since Jan 1998):

Original Contributions
Association of Moderate Polyglutamine Tract Expansions in the Slow Calcium-Activated Potassium Channel Type 3 With Ataxia
Karla Patricia Figueroa; Piu Chan; Ludger Schöls; Carline Tanner; Olaff Riess; Susan L. Perlman; Daniel H. Geschwind; Stefan M. Pulst
Arch Neurol 2001; 58: 1649-1653. [Abstract] [Full text] [PDF]  

Original Contributions
A Novel Mutation in the Notch3 Gene in an Italian Family With Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy: Genetic and Magnetic Resonance Spectroscopic Findings
Rosario L. Oliveri; Maria Muglia; Nicole De Stefano; Rosalucia Mazzei; Angelo Labate; Francesca L. Conforti; Allessandra Patitucci; Anna L. Gabriele; Giuseppe Tagarelli; Angela Magariello; Mario Zappia; Antonio Gambardella; Antonio Federico; Aldo Quattrone
Arch Neurol 2001; 58: 1418-1422. [Abstract] [Full text] [PDF]  

Original Contributions
The 5-HTTPR*S/*L Polymorphism and Aggressive Behavior in Alzheimer Disease
Danielle L. Sukonick; Bruce G. Pollock; Robert A. Sweet; Benoit H. Mulsant; Jules Rosen; William E. Klunk; Kari B. Kastango; Steven T. DeKosky; Robert E. Ferrell
Arch Neurol 2001; 58: 1425-1428. [Abstract] [Full text] [PDF]  

Original Contributions
Cognitive Deficits Associated With a Recently Reported Familial Neurodegenerative Disease: Familial Encephalopathy With Neuroserpin Inclusion Bodies
Charles B. Bradshaw; Richard L. Davis; Antony E. Shrimpton; Peter D. Holohan; Cornelia B. Rea; David Fieglin; Paul Kent; George H. Collins
Arch Neurol 2001; 58: 1429-1434. [Abstract] [Full text] [PDF]  

Original Contributions
Double-blind Crossover Trial of Trimethoprim-Sulfamethoxazole in Spinocerebellar Ataxia Type 3/Machado-Joseph Disease
Thorsten Schulte; Rebekka Mattern; Klaus Berger; Sandra Szymanski; Peter Klotz; Peter H. Kraus; Horst Przuntek; Ludger Schöls
Arch Neurol 2001; 58: 1451-1457. [Abstract] [Full text] [PDF]  

Original Contributions
Familial Advanced Sleep Phase Syndrome
Kathryn J. Reid; Anne-Marie Chang; Margarita L. Dubocovich; Fred W. Turek; Joseph S. Takahashi; Phyllis C. Zee
Arch Neurol 2001; 58: 1089-1094. [Abstract] [Full text] [PDF]  

Original Contributions
Frequency Analysis of Autosomal Dominant Cerebellar Ataxias in Taiwanese Patients and Clinical and Molecular Characterization of Spinocerebellar Ataxia Type 6
Bing-wen Soong; Yi-chun Lu; Kong-bung Choo; Hsiang-ying Lee
Arch Neurol 2001; 58: 1105-1109. [Abstract] [Full text] [PDF]  

Original Contributions
Neurologic Findings in Machado-Joseph Disease: Relation With Disease Duration, Subtypes, and
(CAG)n
Laura B. Jardim; Maria L. Pereira; Isabel Silveira; Anabela Ferro; Jorge Sequeiros; Roberto Giugliani
Arch Neurol 2001; 58: 899-904. [Abstract] [Full text] [PDF]  

Original Contributions
Autopsy-Confirmed Familial Early-Onset Alzheimer Disease Caused by the L153V Presenilin 1 Mutation
John C. Janssen; Peter L. Lantos; Nicholas C. Fox; Richard J. Harvey; Jonathan Beck; Andrew Dickinson; Tracey A. Campbell; John Collinge; Diane P. Hanger; Lisa Cipolotti; John M. Stevens; Martin N. Rossor
Arch Neurol 2001; 58: 953-958. [Abstract] [Full text] [PDF]  

Observations
An Apparently Sporadic Case With Parkin Gene Mutation in a Korean Woman
Beom S. Jeon; Jong-Min Kim; Dong-Soo Lee; Nobutaka Hattori; Yoshikuni Mizuno
Arch Neurol 2001; 58: 988-989. [Abstract] [Full text] [PDF]  

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