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Genetic Disorders

Citations 91-100 of 396 total displayed.

Past content (since Jan 1998):

Original Contributions
Candidate Single-Nucleotide Polymorphisms From a Genomewide Association Study of Alzheimer Disease
Hao Li; Sally Wetten; Li Li; Pamela L. St. Jean; Ruchi Upmanyu; Linda Surh; David Hosford; Michael R. Barnes; James David Briley; Michael Borrie; Natalie Coletta; Richard Delisle; Daniella Dhalla; Margaret G. Ehm; Howard H. Feldman; Luis Fornazzari; Serge Gauthier; Neil Goodgame; Danilo Guzman; Sandra Hammond; Paul Hollingworth; Ging-Yuek Hsiung; Joan Johnson; Devon D. Kelly; Ron Keren; Andrew Kertesz; Karen S. King; Simon Lovestone; Inge Loy-English; Paul M. Matthews; Michael J. Owen; Mary Plumpton; William Pryse-Phillips; Rab K. Prinjha; Jill C. Richardson; Ann Saunders; Andrew J. Slater; Peter H. St. George-Hyslop; Sandra W. Stinnett; Jina E. Swartz; Rachel L. Taylor; John Wherrett; Julie Williams; David P. Yarnall; Rachel A. Gibson; Michael C. Irizarry; Lefkos T. Middleton; Allen D. Roses
Arch Neurol 2007.3. [Abstract] [Full text] []  

Observations
Choreoacanthocytosis in a Mexican Family
José L. Ruiz-Sandoval; Víctor García-Navarro; Erwin Chiquete; Carol Dobson-Stone; Anthony P. Monaco; Lucía E. Álvarez-Palazuelos; Juan J. Padilla-Martínez; Esperanza Barrera-Chairez; Erika I. Rodríguez-Figueroa; Guillermo Pérez-García
Arch Neurol 2007; 64: 1661-1664. [Abstract] [Full text] [PDF]  

Original Contributions
Alzheimer and Parkinson Diagnoses in Progranulin Null Mutation Carriers in an Extended Founder Family
Nathalie Brouwers; Karen Nuytemans; Julie van der Zee; Ilse Gijselinck; Sebastiaan Engelborghs; Jessie Theuns; Samir Kumar-Singh; Barbara A. Pickut; Philippe Pals; Bart Dermaut; Veerle Bogaerts; Tim De Pooter; Sally Serneels; Marleen Van den Broeck; Ivy Cuijt; Maria Mattheijssens; Karin Peeters; Raf Sciot; Jean-Jacques Martin; Patrick Cras; Patrick Santens; Rik Vandenberghe; Peter P. De Deyn; Marc Cruts; Christine Van Broeckhoven; Kristel Sleegers
Arch Neurol 2007; 64: 1436-1446. [Abstract] [Full text] [PDF]  

Original Contributions
Risk of Cognitive Impairment or Dementia in Relatives of Patients With Parkinson Disease
Walter A. Rocca; James H. Bower; J. Eric Ahlskog; Alexis Elbaz; Brandon R. Grossardt; Shannon K. McDonnell; Daniel J. Schaid; Demetrius M. Maraganore
Arch Neurol 2007; 64: 1458-1464. [Abstract] [Full text] [PDF]  

Corrections
Error in Figure in: The New Neurobiology of Autism: Cortex, Connectivity, and Neuronal Organization
Arch Neurol 2007; 64: 1464. [Full text] [PDF]  

Original Contributions
Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease
Sandra Martins; Francesc Calafell; Claudia Gaspar; Virginia C. N. Wong; Isabel Silveira; Garth A. Nicholson; Ewout R. Brunt; Lisbeth Tranebjaerg; Giovanni Stevanin; Mingli Hsieh; Bing-wen Soong; Leal Loureiro; Alexandra Dürr; Shoji Tsuji; Mitsunori Watanabe; Laura B. Jardim; Paola Giunti; Olaf Riess; Laura P. W. Ranum; Alexis Brice; Guy A. Rouleau; Paula Coutinho; António Amorim; Jorge Sequeiros
Arch Neurol 2007; 64: 1502-1508. [Abstract] [Full text] [PDF]  

Original Contributions
Importance of Low-Range CAG Expansion and CAA Interruption in SCA2 Parkinsonism
Jong-Min Kim; Susie Hong; Gyoung Pyoung Kim; Yoon Jae Choi; Yu Kyeong Kim; Sung Sup Park; Sang Eun Kim; Beom S. Jeon
Arch Neurol 2007; 64: 1510-1518. [Abstract] [Full text] [PDF]  

Observations
Familial Early-Onset Dementia With Tau Intron 10 + 16 Mutation With Clinical Features Similar to Those of Alzheimer Disease
Mark Doran; Daniel G. du Plessis; Eric J. Ghadiali; David M. A. Mann; Stuart Pickering-Brown; Andrew J. Larner
Arch Neurol 2007; 64: 1535-1539. [Abstract] [Full text] [PDF]  

Corrections
Error in Byline in: Stoichiometric Alteration of PMP22 Protein Determines the Phenotype of Hereditary Neuropathy With Liability to Pressure Palsies
Arch Neurol 2007; 64: 1547. [Full text] [PDF]  

Neurological Reviews
Gene Therapy for Duchenne Muscular Dystrophy: Expectations and Challenges
Louise R. Rodino-Klapac; Louis G. Chicoine; Brian K. Kaspar; Jerry R. Mendell
Arch Neurol 2007; 64: 1236-1241. [Abstract] [Full text] [PDF]  

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