Genetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 421-430 of 2155 total displayed.

Past content

Original Contributions
Risk of Parkinson Disease in Carriers of Parkin Mutations: Estimation Using the Kin-Cohort Method

Yuanjia Wang; Lorraine N. Clark; Elan D. Louis; Helen Mejia-Santana; Juliette Harris; Lucien J. Cote; Cheryl Waters; Howard Andrews; Blair Ford; Steven Frucht; Stanley Fahn; Ruth Ottman; Daniel Rabinowitz; Karen Marder
Arch Neurol 2008; 65: 467-474. [Abstract] [Full text] [PDF]  

Original Contributions
Glucose Homeostasis in Huntington Disease: Abnormalities in Insulin Sensitivity and Early-Phase Insulin Secretion

Nebojsa M. Lalic; Jelena Maric; Marina Svetel; Aleksandra Jotic; Elka Stefanova; Katarina Lalic; Natasa Dragasevic; Tanja Milicic; Ljiljana Lukic; Vladimir S. Kostic
Arch Neurol 2008; 65: 476-480. [Abstract] [Full text] [PDF]  

Original Contributions
Rapid Eye Movement Sleep Disturbances in Huntington Disease

Isabelle Arnulf; Jørgen Nielsen; Ebba Lohmann; Johannes Schieffer; Edward Wild; Poul Jennum; Eric Konofal; Matthew Walker; Delphine Oudiette; Sarah Tabrizi; Alexandra Durr
Arch Neurol 2008; 65: 482-488. [Abstract] [Full text] [PDF] [ VIDEO SUPPLEMENT ]  

Original Contributions
Cryptogenic Epileptic Syndromes Related to SCN1A: Twelve Novel Mutations Identified

Claudio Zucca; Francesca Redaelli; Roberta Epifanio; Nicoletta Zanotta; Antonino Romeo; Monica Lodi; Pierangelo Veggiotti; Giovanni Airoldi; Chris Panzeri; Romina Romaniello; Gianni De Polo; Paolo Bonanni; Simonetta Cardinali; Cinzia Baschirotto; Loreto Martorell; Renato Borgatti; Nereo Bresolin; Maria Teresa Bassi
Arch Neurol 2008; 65: 489-494. [Abstract] [Full text] [PDF]  

Original Contributions
Abnormal Nerve Conduction Features in Fragile X Premutation Carriers

Kultida Soontarapornchai; Ricardo Maselli; Grace Fenton-Farrell; Flora Tassone; Paul J. Hagerman; Davis Hessl; Randi J. Hagerman
Arch Neurol 2008; 65: 495-498. [Abstract] [Full text] [PDF]  

Original Contributions
Clinical and Neuropathological Features of the Arctic APP Gene Mutation Causing Early-Onset Alzheimer Disease

Hans Basun; Nenad Bogdanovic; Martin Ingelsson; Ove Almkvist; Jan Näslund; Karin Axelman; Thomas D. Bird; David Nochlin; Gerard D. Schellenberg; Lars-Olof Wahlund; Lars Lannfelt
Arch Neurol 2008; 65: 499-505. [Abstract] [Full text] [PDF]  

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]  

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