Genetic Disorders

Citations 211-220 of 396 total displayed.

Past content (since Jan 1998):

Original Contributions
Lack of Familial Aggregation of Parkinson Disease and Alzheimer Disease

Gilberto Levy; Elan D. Louis; Helen Mejia-Santana; Lucien Côté; Howard Andrews; Juliette Harris; Cheryl Waters; Blair Ford; Steven Frucht; Stanley Fahn; Ruth Ottman; Karen Marder
Arch Neurol 2004; 61: 1033-1039. [Abstract] [Full text] [PDF]  

Observations
A New Rare Mutation (691delCC/insAAA) in Exon 17 of the PYGM Gene Causing McArdle Disease

Beatriz Quintans; Amalia Sanchez-Andrade; Susana Teijeira; Roberto Fernandez-Hojas; Eloy Rivas; María José López; Carmen Navarro
Arch Neurol 2004; 61: 1108-1110. [Abstract] [Full text] [PDF]  

Neurological Reviews
Genetic Basis of Developmental Malformations of the Cerebral Cortex

Ganeshwaran H. Mochida; Christopher A. Walsh
Arch Neurol 2004; 61: 637-640. [Abstract] [Full text] [PDF]  

Original Contributions
Extreme Variability of Phenotype in Patients With an Identical Missense Mutation in the Lamin A/C Gene: From Congenital Onset With Severe Phenotype to Milder Classic Emery-Dreifuss Variant

Eugenio Mercuri; Maja Poppe; Ros Quinlivan; Sonia Messina; Maria Kinali; Laurence Demay; John Bourke; Pascale Richard; Caroline Sewry; Mike Pike; Gisèle Bonne; Francesco Muntoni; Kate Bushby
Arch Neurol 2004; 61: 690-694. [Abstract] [Full text] [PDF]  

Original Contributions
Clinical Findings in a Large Family With a Parkin Ex340 Mutation

Renato P. Munhoz; Daniel S. Sa; Ekaterina Rogaeva; Shabnam Salehi-Rad; Christine Sato; Helena Medeiros; Matthew Farrer; Anthony E. Lang
Arch Neurol 2004; 61: 701-704. [Abstract] [Full text] [PDF]  

History of Neurology
Was the Ataxia of Pierre Marie Machado-Joseph Disease?: A Reappraisal Based on the Last Autopsy Case From la Salpêtrière Hospital

Toshiki Uchihara; Charles Duyckaerts; Kiyoshi Iwabuchi; Makoto Iwata; Saburo Yagishita; Jean-Jacques Hauw
Arch Neurol 2004; 61: 784-790. [Abstract] [Full text] [PDF]  

Original Contributions
Influence of Apolipoprotein E 4 Genotype on Brain Tissue Integrity in Relapsing-Remitting Multiple Sclerosis

Nicola De Stefano; Maria Letizia Bartolozzi; Benedetta Nacmias; Valentina Zipoli; Marzia Mortilla; Leonello Guidi; Gianfranco Siracusa; Sandro Sorbi; Antonio Federico; Maria Pia Amato
Arch Neurol 2004; 61: 536-540. [Abstract] [Full text] [PDF]  

Correspondence
Donepezil Use in Down Syndrome

Priya S. Kishnani; Jennifer A. Sullivan; Gail A. Spiridigliozzi; James H. Heller; Blythe G. Crissman
Arch Neurol 2004; 61: 605-a-606-a. [Extract] [Full text] [PDF]  

Correspondence
Migraine and Tourette Syndrome

Piero Barbanti; Giovanni Fabbrini
Arch Neurol 2004; 61: 606-a-607-a. [Extract] [Full text] [PDF]  

Correspondence
Migraine and Tourette Syndrome—Reply

Joseph Jankovic; Carolyn Kwak
Arch Neurol 2004; 61: 607. [Extract] [Full text] [PDF]  

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