Genetic Disorders

Contributing journals to this collection:
JAMA & Archives Journals

Citations 311-320 of 1368 total displayed.

Past content

Original Contributions
Parietal Lobe Deficits in Frontotemporal Lobar Degeneration Caused by a Mutation in the Progranulin Gene

Jonathan D. Rohrer; Jason D. Warren; Rohani Omar; Simon Mead; Jonathan Beck; Tamas Revesz; Janice Holton; John M. Stevens; Safa Al-Sarraj; Stuart M. Pickering-Brown; John Hardy; Nick C. Fox; John Collinge; Elizabeth K. Warrington; Martin N. Rossor
Arch Neurol 2008; 65: 506-513. [Abstract] [Full text] [PDF]  

Original Contributions
Patients Homozygous and Heterozygous for SNCA Duplication in a Family With Parkinsonism and Dementia

Takeshi Ikeuchi; Akiyoshi Kakita; Atsushi Shiga; Kensaku Kasuga; Hiryoyuki Kaneko; Chun-Feng Tan; Jiro Idezuka; Koichi Wakabayashi; Osamu Onodera; Takeshi Iwatsubo; Masatoyo Nishizawa; Hitoshi Takahashi; Atsushi Ishikawa
Arch Neurol 2008; 65: 514-519. [Abstract] [Full text] [PDF]  

Original Contributions
Lack of Spartin Protein in Troyer Syndrome: A Loss-of-Function Disease Mechanism?

Joanna C. Bakowska; Heng Wang; Baozhong Xin; Charlotte J. Sumner; Craig Blackstone
Arch Neurol 2008; 65: 520-524. [Abstract] [Full text] [PDF]  

Original Contributions
Muscle Excitability Abnormalities in Machado-Joseph Disease

Marcondes C. França Jr; Anelyssa D’Abreu; Anamarli Nucci; Iscia Lopes-Cendes
Arch Neurol 2008; 65: 525-529. [Abstract] [Full text] [PDF]  

Observations
Geriatric Neurogenetics: Oxymoron or Reality?

Thomas D. Bird; Hillary P. Lipe; Ellen J. Steinbart
Arch Neurol 2008; 65: 537-539. [Abstract] [Full text] [PDF]  

Observations
In Vivo Detection of Thalamic Gliosis: A Pathoradiologic Demonstration in Familial Fatal Insomnia

Stéphane Haïk; Damien Galanaud; Marius G. Linguraru; Katell Peoc’h; Nicolas Privat; Baptiste A. Faucheux; Nicholas Ayache; Jean-Jacques Hauw; Didier Dormont; Jean-Philippe Brandel
Arch Neurol 2008; 65: 545-549. [Abstract] [Full text] [PDF]  

Research Letters
Synergistic Convergence in Congenital Extraocular Muscle Misinnervation

Christina Pieh; Ansgar Berlis; Wolf A. Lagrèze
Arch Ophthalmol 2008; 126: 574-576. [Extract] [Full text] [PDF] [ eFigures ]  

Original Contributions
Frequency of Germline Genomic Homozygosity Associated With Cancer Cases

Guillaume Assié; Thomas LaFramboise; Petra Platzer; Charis Eng
JAMA 2008; 299: 1437-1445. [Abstract] [Full text] [PDF] [ eTable ]  

Original Investigations
Colonoscopy Screening in African Americans and Whites With Affected First-Degree Relatives

Harvey J. Murff; Neeraja B. Peterson; Jay H. Fowke; Margaret Hargreaves; Lisa B. Signorello; Robert S. Dittus; Wei Zheng; William J. Blot
Arch Intern Med 2008; 168: 625-631. [Abstract] [Full text] [PDF]  

Original Investigations
Blood Pressure Change and Risk of Hypertension Associated With Parental Hypertension: The Johns Hopkins Precursors Study

Nae-Yuh Wang; J. Hunter Young; Lucy A. Meoni; Daniel E. Ford; Thomas P. Erlinger; Michael J. Klag
Arch Intern Med 2008; 168: 643-648. [Abstract] [Full text] [PDF]  

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