Neurogenetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 461-470 of 623 total displayed.

Past content

Original Contributions
Prevalence of Dentatorubral-Pallidoluysian Atrophy in a Large Series of White Patients With Cerebellar Ataxia

Isabelle Le Ber; Agnès Camuzat; Giovanni Castelnovo; Jean-Philippe Azulay; Pierre Genton; Jean-Louis Gastaut; Dominique Broglin; Pierre Labauge; Alexis Brice; Alexandra Dürr
Arch Neurol 2003; 60: 1097-1099. [Abstract] [Full text] [PDF]  

Original Contributions
Subtle Cognitive Impairment but No Dementia in Patients With Spastin Mutations

Chantal M. E. Tallaksen; Elodie Guichart-Gomez; Patrice Verpillat; Valérie Hahn-Barma; Merle Ruberg; Bertrand Fontaine; Alexis Brice; Bruno Dubois; Alexandra Dürr
Arch Neurol 2003; 60: 1113-1118. [Abstract] [Full text] [PDF]  

Observations
A Novel Mutation in the PSEN2 Gene (T430M) Associated With Variable Expression in a Family With Early-Onset Alzheimer Disease

Mario Ezquerra; Alberto Lleó; Magda Castellví; Rosa Queralt; Pilar Santacruz; Pau Pastor; José Luis Molinuevo; Rafael Blesa; Rafael Oliva
Arch Neurol 2003; 60: 1149-1151. [Abstract] [Full text] [PDF]  

Original Contributions
Association Study of Parkin Gene Polymorphisms With Idiopathic Parkinson Disease

Sofia A. Oliveira; William K. Scott; Martha A. Nance; Ray L. Watts; Jean P. Hubble; William C. Koller; Kelly E. Lyons; Rajesh Pahwa; Matthew B. Stern; Bradley C. Hiner; Joseph Jankovic; William G. Ondo; Fred H. Allen Jr; Burton L. Scott; Christopher G. Goetz; Gary W. Small; Frank L. Mastaglia; Jeffrey M. Stajich; Fengyu Zhang; Michael W. Booze; Joshua A. Reaves; Lefkos T. Middleton; Jonathan L. Haines; Margaret A. Pericak-Vance; Jeffery M. Vance; Eden R. Martin
Arch Neurol 2003; 60: 975-980. [Abstract] [Full text] [PDF]  

Original Contributions
Phenotypic Features and Genetic Findings in Sacsin-Related Autosomal Recessive Ataxia in Tunisia

Ghada El Euch-Fayache; Irfan Lalani; Rim Amouri; Ilhem Turki; Karim Ouahchi; Wu-Yen Hung; Samir Belal; Teepu Siddique; Fayçal Hentati
Arch Neurol 2003; 60: 982-988. [Abstract] [Full text] [PDF]  

Observations
Mitochondrial Myopathy of Childhood Associated With Mitochondrial DNA Depletion and a Homozygous Mutation (T77M) in the TK2 Gene

Michelangelo Mancuso; Massimiliano Filosto; Eduardo Bonilla; Michio Hirano; Sara Shanske; Tuan H. Vu; Salvatore DiMauro
Arch Neurol 2003; 60: 1007-1009. [Abstract] [Full text] [PDF]  

Original Contributions
Increased Risk of Late Posttraumatic Seizures Associated With Inheritance of APOE 4 Allele

Ramon Diaz-Arrastia; Yunhua Gong; Suzette Fair; Kristin D. Scott; Maria C. Garcia; Mary C. Carlile; Mark A. Agostini; Paul C. Van Ness
Arch Neurol 2003; 60: 818-822. [Abstract] [Full text] [PDF]  

Original Contributions
Disease Course of Charcot-Marie-Tooth Disease Type 2: A 5-Year Follow-up Study

Laurien L. Teunissen; Nicolette C. Notermans; Hessel Franssen; Baziel G. M. van Engelen; Frank Baas; John H. J. Wokke
Arch Neurol 2003; 60: 823-828. [Abstract] [Full text] [PDF]  

Original Contributions
Frequency Analysis and Clinical Characterization of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Korean Patients

Won Yong Lee; Dong Kyu Jin; Myung Ryurl Oh; Ji Eun Lee; Seng Mi Song; Eun Ah Lee; Gyeong-moon Kim; Jin Sang Chung; Kwang Ho Lee
Arch Neurol 2003; 60: 858-863. [Abstract] [Full text] [PDF]  

Observations
Presenilin 1 Mutation in an African American Family Presenting With Atypical Alzheimer Dementia

Gregory A. Rippon; Richard Crook; Matthew Baker; Elizabeth Halvorsen; Steven Chin; Michael Hutton; Henry Houlden; John Hardy; Timothy Lynch
Arch Neurol 2003; 60: 884-888. [Abstract] [Full text] [PDF]  

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