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Genetic Disorders

Citations 261-270 of 396 total displayed.

Past content (since Jan 1998):

Observations
Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family
Anne Romstad; Erik Dupont; Bente Krag-Olsen; Karen Østergaard; Per Guldberg; Flemming Güttler
Arch Neurol 2003; 60: 618-622. [Abstract] [Full text] [PDF]  

Neurological Reviews
Autosomal Dominant Inherited Neuropathies With Prominent Sensory Loss and Mutilations: A Review
Michaela Auer-Grumbach; Peter De Jonghe; Kristien Verhoeven; Vincent Timmerman; Klaus Wagner; Hans-Peter Hartung; Garth A. Nicholson
Arch Neurol 2003; 60: 329-334. [Abstract] [Full text] [PDF]  

Editorials
Apolipoprotein E, Alzheimer Disease, and African Americans
Richard Mayeux
Arch Neurol 2003; 60: 161-163. [Extract] [Full text] [PDF]  

Original Contributions
Incidence of Alzheimer Disease in a Biracial Urban Community: Relation to Apolipoprotein E Allele Status
Denis A. Evans; David A. Bennett; Robert S. Wilson; Julia L. Bienias; Martha Clare Morris; Paul A. Scherr; Liesi E. Hebert; Neelum Aggarwal; Laurel A. Beckett; Rajiv Joglekar; Elizabeth Berry-Kravis; Julie Schneider
Arch Neurol 2003; 60: 185-189. [Abstract] [Full text] [PDF]  

Observations
Unusual Clinical and Magnetic Resonance Imaging Findings in a Family With Proteolipid Protein Gene Mutation
Roberta Battini; M. Cristina Bianchi; Odile Boespflug-Tanguy; Michela Tosetti; Paolo Bonanni; Raffaello Canapicchi; Giovanni Cioni
Arch Neurol 2003; 60: 268-272. [Abstract] [Full text] [PDF]  

Editorials
Cyp46 (24S-Cholesterol Hydroxylase): A Genetic Risk Factor for Alzheimer Disease
Benjamin Wolozin
Arch Neurol 2003; 60: 16-18. [Extract] [Full text] [PDF]  

Original Contributions
Increased Brain {beta}-Amyloid Load, Phosphorylated Tau, and Risk of Alzheimer Disease Associated With an Intronic CYP46 Polymorphism
Andreas Papassotiropoulos; Johannes R. Streffer; Magdalini Tsolaki; Simon Schmid; Dietmar Thal; Francesca Nicosia; Vassiliki Iakovidou; Alessia Maddalena; Dieter Lütjohann; Estifanos Ghebremedhin; Thomas Hegi; Thomas Pasch; Muriel Träxler; Annette Brühl; Luisa Benussi; Giuliano Binetti; Heiko Braak; Roger M. Nitsch; Christoph Hock
Arch Neurol 2003; 60: 29-35. [Abstract] [Full text] [PDF]  

Original Contributions
Lower Levels of N-Acetylaspartate in Multiple Sclerosis Patients With the Apolipoprotein E {epsilon}4 Allele
Christian Enzinger; Stefan Ropele; Siegrid Strasser-Fuchs; Peter Kapeller; Helena Schmidt; Birgit Poltrum; Reinhold Schmidt; Hans-Peter Hartung; Franz Fazekas
Arch Neurol 2003; 60: 65-70. [Abstract] [Full text] [PDF]  

Observations
The Fragile X Premutation Presenting as Essential Tremor
Maureen A. Leehey; Renato P. Munhoz; Anthony E. Lang; James A. Brunberg; Jim Grigsby; Claudia Greco; Sebastian Jacquemont; Flora Tassone; A. M. Lozano; Paul J. Hagerman; Randi J. Hagerman
Arch Neurol 2003; 60: 117-121. [Abstract] [Full text] [PDF]  

Observations
Spinocerebellar Ataxia in Monozygotic Twins
John H. Anderson; Peka S. Christova; Ting-dong Xie; Kelly S. Schott; Kenneth Ward; Christopher M. Gomez
Arch Neurol 2002; 59: 1945-1951. [Abstract] [Full text] [PDF]  

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