Neurogenetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 281-290 of 623 total displayed.

Past content

Observations
Childhood Onset in Familial Prion Disease With a Novel Mutation in the PRNP Gene

Ekaterina Rogaeva; Cindy Zadikoff; Jonathan Ponesse; Gerold Schmitt-Ulms; Toshitaka Kawarai; Christine Sato; Shabnam Salehi-Rad; Peter St. George-Hyslop; Anthony E. Lang
Arch Neurol 2006; 63: 1016-1021. [Abstract] [Full text] [PDF]  

Neurological Reviews
Finding the Causes of Inherited Neuropathies

Steven S. Scherer
Arch Neurol 2006; 63: 812-816. [Extract] [Full text] [PDF]  

Original Contributions
Influence of Heterozygosity for Parkin Mutation on Onset Age in Familial Parkinson Disease: The GenePD Study

Mei Sun; Jeanne C. Latourelle; G. Frederick Wooten; Mark F. Lew; Christine Klein; Holly A. Shill; Lawrence I. Golbe; Margery H. Mark; Brad A. Racette; Joel S. Perlmutter; Abbas Parsian; Mark Guttman; Garth Nicholson; Gang Xu; Jemma B. Wilk; Marie H. Saint-Hilaire; Anita L. DeStefano; Ranjana Prakash; Sally Williamson; Oksana Suchowersky; Nancy Labelle; John H. Growdon; Carlos Singer; Ray L. Watts; Stefano Goldwurm; Gianni Pezzoli; Kenneth B. Baker; Peter P. Pramstaller; David J. Burn; Patrick F. Chinnery; Scott Sherman; Peter Vieregge; Irene Litvan; Tammy Gillis; Marcy E. MacDonald; Richard H. Myers; James F. Gusella
Arch Neurol 2006; 63: 826-832. [Abstract] [Full text] [PDF]  

Original Contributions
Clinical Spectrum of Homozygous and Heterozygous PINK1 Mutations in a Large German Family With Parkinson Disease: Role of a Single Hit?

Katja Hedrich; Johann Hagenah; Ana Djarmati; Anja Hiller; Thora Lohnau; Kathrin Lasek; Anne Grünewald; Rüdiger Hilker; Susanne Steinlechner; Heather Boston; Norman Kock; Christiane Schneider-Gold; Wolfram Kress; Hartwig Siebner; Ferdinand Binkofski; Rebekka Lencer; Alexander Münchau; Christine Klein
Arch Neurol 2006; 63: 833-838. [Abstract] [Full text] [PDF]  

Observations
Novel Mitochondrial Transfer RNA^Phe Gene Mutation Associated With Late-Onset Neuromuscular Disease

Marcus Deschauer; Helen Swalwell; Maria Strauss; Stephan Zierz; Robert W. Taylor
Arch Neurol 2006; 63: 902-905. [Abstract] [Full text] [PDF]  

Basic Science Seminars in Neurology
Mitochondria in Parkinson Disease: Back in Fashion With a Little Help From Genetics

Miratul M. K. Muqit; Sonia Gandhi; Nicholas W. Wood
Arch Neurol 2006; 63: 649-654. [Abstract] [Full text] [PDF]  

Original Contributions
Nerve Conduction Abnormalities in Patients With MELAS and the A3243G Mutation

Petra Kaufmann; Juan M. Pascual; Yaacov Anziska; Clifton L. Gooch; Kristin Engelstad; Sarah Jhung; Salvatore DiMauro; Darryl C. De Vivo
Arch Neurol 2006; 63: 746-748. [Abstract] [Full text] [PDF]  

Original Contributions
Eight Novel Mutations in SPG4 in a Large Sample of Patients With Hereditary Spastic Paraplegia

Francesca Crippa; Chris Panzeri; Andrea Martinuzzi; Alessia Arnoldi; Francesca Redaelli; Alessandra Tonelli; Cinzia Baschirotto; Giovanni Vazza; Maria Luisa Mostacciuolo; Andrea Daga; Genny Orso; Paolo Profice; Antonio Trabacca; Maria Grazia D’Angelo; Giacomo Pietro Comi; Sara Galbiati; Costanza Lamperti; Sara Bonato; Massimo Pandolfo; Giovanni Meola; Olimpia Musumeci; Antonio Toscano; Carlo Pietro Trevisan; Nereo Bresolin; Maria Teresa Bassi
Arch Neurol 2006; 63: 750-755. [Abstract] [Full text] [PDF]  

Original Contributions
Hereditary Spastic Paraplegia With Thin Corpus Callosum: Reduction of the SPG11 Interval and Evidence for Further Genetic Heterogeneity

Alexander Lossos; Giovanni Stevanin; Vardiella Meiner; Zohar Argov; Naima Bouslam; J. P. Newman; John M. Gomori; Stephan Klebe; Israela Lerer; Nizar Elleuch; Shira Silverstein; Alexandra Durr; Oded Abramsky; Ziva Ben-Nariah; Alexis Brice
Arch Neurol 2006; 63: 756-760. [Abstract] [Full text] [PDF]  

Original Contributions
Case-Control Study of the Parkin Gene in Early-Onset Parkinson Disease

Lorraine N. Clark; Shehla Afridi; Eric Karlins; Yuanjia Wang; Helen Mejia-Santana; Juliette Harris; Elan D. Louis; Lucien J. Cote; Howard Andrews; Stanley Fahn; Cheryl Waters; Blair Ford; Steven Frucht; Ruth Ottman; Karen Marder
Arch Neurol 2006; 63: 548-552. [Abstract] [Full text] [PDF]  

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