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Neurogenetics

Citations 251-260 of 574 total displayed.

Past content (since May 1998):

Observations
De Novo Occurrence of Novel SPG3A/Atlastin Mutation Presenting as Cerebral Palsy
Shirley Rainier; Carron Sher; Orit Reish; Donald Thomas; John K. Fink
Arch Neurol 2006; 63: 445-447. [Abstract] [Full text] [PDF]  

Observations
Familial Creutzfeldt-Jakob Disease With an R208H-129V Haplotype and Kuru Plaques
Céline Basset-Leobon; Emmanuelle Uro-Coste; Katell Peoc’h; Stéphane Haik; Véronique Sazdovitch; Mathieu Rigal; Olivier Andreoletti; Jean-Jacques Hauw; Marie-Bernadette Delisle
Arch Neurol 2006; 63: 449-452. [Abstract] [Full text] [PDF]  

Original Contributions
Spectrum of Brain Changes in Patients With Congenital Muscular Dystrophy and FKRP Gene Mutations
Eugenio Mercuri; Haluk Topaloglu; Martin Brockington; Angela Berardinelli; Anna Pichiecchio; Filippo Santorelli; Mary Rutherford; Beril Talim; Enzo Ricci; Thomas Voit; Francesco Muntoni
Arch Neurol 2006; 63: 251-257. [Abstract] [Full text] [PDF]  

Original Contributions
The G93C Mutation in Superoxide Dismutase 1: Clinicopathologic Phenotype and Prognosis
Luc Régal; Ludo Vanopdenbosch; Petra Tilkin; Ludo Van Den Bosch; Vincent Thijs; Rafael Sciot; Wim Robberecht
Arch Neurol 2006; 63: 262-267. [Abstract] [Full text] [PDF]  

Original Contributions
Heterogeneous Phenotype in a Family With Compound Heterozygous Parkin Gene Mutations
Hao Deng; Wei-Dong Le; Christine B. Hunter; William G. Ondo; Yi Guo; Wen-Jie Xie; Joseph Jankovic
Arch Neurol 2006; 63: 273-277. [Abstract] [Full text] [PDF]  

Original Contributions
Phenotypic Variability Among Adult Siblings With Sjögren-Larsson Syndrome
Alexander Lossos; Moona Khoury; William B. Rizzo; John M. Gomori; Eyal Banin; Abraham Zlotogorski; Saleh Jaber; Oded Abramsky; Zohar Argov; Hanna Rosenmann
Arch Neurol 2006; 63: 278-280. [Abstract] [Full text] [PDF]  

Observations
A Missense Mutation in the Coiled-Coil Domain of the KIF5A Gene and Late-Onset Hereditary Spastic Paraplegia
Mariangela Lo Giudice; Marcella Neri; Michele Falco; Maurizio Sturnio; Elisa Calzolari; Daniela Di Benedetto; Marco Fichera
Arch Neurol 2006; 63: 284-287. [Abstract] [Full text] [PDF]  

Images in Neurology
Eagle Syndrome: An Unusual Cause of Head and Neck Pain
Christina K. Sun; Vince Mercuri; Mark J. Cook
Arch Neurol 2006; 63: 294. [Extract] [Full text] [PDF]  

Original Contributions
Association of Novel POLG Mutations and Multiple Mitochondrial DNA Deletions With Variable Clinical Phenotypes in a Spanish Population
Emiliano González-Vioque; Alberto Blázquez; Daniel Fernández-Moreira; Belén Bornstein; Juan Bautista; Javier Arpa; Carmen Navarro; Yolanda Campos; Miguel A. Fernández-Moreno; Rafael Garesse; Joaquin Arenas; Miguel A. Martín
Arch Neurol 2006; 63: 107-111. [Abstract] [Full text] [PDF]  

Original Contributions
Double Trouble in Hereditary Neuropathy: Concomitant Mutations in the PMP-22 Gene and Another Gene Produce Novel Phenotypes
Julie A. Hodapp; Gregory T. Carter; Hillary P. Lipe; Sara J. Michelson; George H. Kraft; Thomas D. Bird
Arch Neurol 2006; 63: 112-117. [Abstract] [Full text] [PDF]  

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