Neurogenetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 431-440 of 623 total displayed.

Past content

Original Contributions
When Sporadic Disease Is Not Sporadic: The Potential for Genetic Etiology

Jill S. Goldman; Bruce L. Miller; Jiri Safar; Sunita de Tourreil; Jennifer L. Martindale; Stanley B. Prusiner; Michael D. Geschwind
Arch Neurol 2004; 61: 213-216. [Abstract] [Full text] [PDF]  

Observations
Revelation of a New Mitochondrial DNA Mutation (G12147A) in a MELAS/MERFF Phenotype

Mariarosa A. B. Melone; Alessandra Tessa; Stefania Petrini; Giacomo Lus; Simone Sampaolo; Giuseppe di Fede; Filippo M. Santorelli; Roberto Cotrufo
Arch Neurol 2004; 61: 269-272. [Abstract] [Full text] [PDF]  

Editorials
When Is Ataxia Not Ataxia?

Katrina Gwinn-Hardy
Arch Neurol 2004; 61: 25-26. [Extract] [Full text] [PDF]  

Original Contributions
The Parkinsonian Phenotype of Spinocerebellar Ataxia Type 2

Chin-Song Lu; Yah-Huei Wu Chou; Pei-Chi Kuo; Hsiu-Chen Chang; Yi-Hsin Weng
Arch Neurol 2004; 61: 35-38. [Abstract] [Full text] [PDF]  

Original Contributions
Three Novel Mutations of the Spastin Gene in Chinese Patients With Hereditary Spastic Paraplegia

Beisha Tang; Guohua Zhao; Kun Xia; Qian Pan; Wei Luo; Lu Shen; Zhigao Long; Heping Dai; Xiaohong Zi; Hong Jiang
Arch Neurol 2004; 61: 49-55. [Abstract] [Full text] [PDF]  

Observations
Multiminicore Disease in a Family Susceptible to Malignant Hyperthermia: Histology, In Vitro Contracture Tests, and Genetic Characterization

Sandrine Guis; Dominique Figarella-Branger; Nicole Monnier; David Bendahan; Geneviève Kozak-Ribbens; Jean-Pierre Mattei; Joël Lunardi; Patrick J. Cozzone; Jean-François Pellissier
Arch Neurol 2004; 61: 106-113. [Abstract] [Full text] [PDF]  

Observations
Clinical Progression and Genetic Analysis in Hereditary Spastic Paraplegia With Thin Corpus Callosum in Spastic Gait Gene 11 (SPG11)

Beate Winner; Goekhan Uyanik; Claudia Gross; Max Lange; Wilhelm Schulte-Mattler; Gerhard Schuierer; Joerg Marienhagen; Ute Hehr; Juergen Winkler
Arch Neurol 2004; 61: 117-121. [Abstract] [Full text] [PDF]  

Observations
Fatal Familial Insomnia: The First Account in a Family of Chinese Descent

Sian D. Spacey; Manuela Pastore; Barbara McGillivray; Jonathan Fleming; Pierluigi Gambetti; Howard Feldman
Arch Neurol 2004; 61: 122-125. [Abstract] [Full text] [PDF]  

Book Reviews
Genetics and Genomics of Neurobehavioral Disorders

Thomas D. Bird
Arch Neurol 2004; 61: 154. [Extract] [Full text] [PDF]  

Original Contributions
Spinocerebellar Ataxia Type 14 Caused by a Mutation in Protein Kinase C

Ichiro Yabe; Hidenao Sasaki; Dong-Hui Chen; Wendy H. Raskind; Thomas D. Bird; Isao Yamashita; Shoji Tsuji; Seiji Kikuchi; Kunio Tashiro
Arch Neurol 2003; 60: 1749-1751. [Abstract] [Full text] [PDF]  

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