Neurogenetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 401-410 of 623 total displayed.

Past content

Original Contributions
Myofibrillogenesis Regulator 1 Gene Mutations Cause Paroxysmal Dystonic Choreoathetosis

Shirley Rainier; Donald Thomas; Debra Tokarz; Lei Ming; Melanie Bui; Erin Plein; Xinping Zhao; Rosemary Lemons; Roger Albin; Colin Delaney; David Alvarado; John K. Fink
Arch Neurol 2004; 61: 1025-1029. [Abstract] [Full text] [PDF]  

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]  

Editorials
Hereditary Spastic Paraplegia: Spastin Phenotype and Function

John K. Fink; Shirley Rainier
Arch Neurol 2004; 61: 830-833. [Extract] [Full text] [PDF]  

Original Contributions
Hereditary Spastic Paraplegia: Clinical Genetic Study of 15 Families

Antonio Orlacchio; Toshitaka Kawarai; Antonio Totaro; Alessia Errico; Peter H. St George-Hyslop; Elena I. Rugarli; Giorgio Bernardi
Arch Neurol 2004; 61: 849-855. [Abstract] [Full text] [PDF]  

Original Contributions
Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders

Corrine O. Smith; Hillary P. Lipe; Thomas D. Bird
Arch Neurol 2004; 61: 875-880. [Abstract] [Full text] [PDF]  

Original Contributions
CTG Repeat Number at the Myotonic Dystrophy Locus in Healthy Kuwaiti Individuals: Possible Explanation of Why Myotonic Dystrophy Is Rare in Kuwait

Suad Alfadhli; Alaa E. Elshafey; Lailá Bastaki; Sadeqa Al-Awadi
Arch Neurol 2004; 61: 895-898. [Abstract] [Full text] [PDF]  

Original Contributions
No Mutations in CACNA1A and ATP1A2 in Probands With Common Types of Migraine

Joanna C. Jen; Gilbert W. Kim; Kristen A. Dudding; Robert W. Baloh
Arch Neurol 2004; 61: 926-928. [Abstract] [Full text] [PDF]  

Original Contributions
Quantitative Assessment of Cerebral Blood Flow in Genetically Confirmed Spinocerebellar Ataxia Type 6

Kie Honjo; Tomohiko Ohshita; Hideshi Kawakami; Hiromitsu Naka; Yukari Imon; Hirofumi Maruyama; Yasuyo Mimori; Masayasu Matsumoto
Arch Neurol 2004; 61: 933-937. [Abstract] [Full text] [PDF]  

Observations
A Novel NOTCH3 Frameshift Deletion and Mitochondrial Abnormalities in a Patient With CADASIL

Maria Teresa Dotti; Nicola De Stefano; Silvia Bianchi; Alessandro Malandrini; Carla Battisti; Elena Cardaioli; Antonio Federico
Arch Neurol 2004; 61: 942-945. [Abstract] [Full text] [PDF]  

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