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Genetic Counseling/ Testing/ Therapy

Citations 81-90 of 122 total displayed.

Past content (since May 1998):

Editorials
2025: The Practice of Neurology: Back From the Future
Allen D. Roses
Arch Neurol 2001; 58: 1766-1767. [Extract] [Full text] [PDF]  

Neurotherapeutics
Feasibility of Gene Therapy for Late Neuronal Ceroid Lipofuscinosis
Dolan Sondhi; Neil R. Hackett; Robin L. Apblett; Stephen M. Kaminsky; Robert G. Pergolizzi; Ronald G. Crystal
Arch Neurol 2001; 58: 1793-1798. [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
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]  

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]  

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]  

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]  

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