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Neurogenetics

Citations 141-150 of 574 total displayed.

Past content (since May 1998):

Observations
POLG1 Mutations Manifesting as Autosomal Recessive Axonal Charcot-Marie-Tooth Disease
Timothy Harrower; Joanna D. Stewart; Gavin Hudson; Henry Houlden; Graham Warner; Dominic G. O’Donovan; Leslie J. Findlay; Robert W. Taylor; Rajith De Silva; Patrick F. Chinnery
Arch Neurol 2008; 65: 133-136. [Abstract] [Full text] [PDF] [ VIDEO SUPPLEMENT ]  

Observations
Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant
Emma M. Clement; Caroline Godfrey; Jenny Tan; Martin Brockington; Silvia Torelli; Lucy Feng; Susan C. Brown; Cecilia Jimenez-Mallebrera; Caroline A. Sewry; Cheryl Longman; Rachael Mein; Steve Abbs; Jiri Vajsar; Harry Schachter; Francesco Muntoni
Arch Neurol 2008; 65: 137-141. [Abstract] [Full text] [PDF]  

Original Contributions
Polygenic Disease Associations in Thymomatous Myasthenia Gravis
Christian Amdahl; Espen H. Alseth; Nils E. Gilhus; Hanne L. Nakkestad; Geir O. Skeie
Arch Neurol 2007; 64: 1729-1733. [Abstract] [Full text] [PDF]  

Observations
Fatal Initial Adult-Onset Presentation of Urea Cycle Defect
Jamie Lien; William L. Nyhan; Bruce A. Barshop
Arch Neurol 2007; 64: 1777-1779. [Abstract] [Full text] [PDF]  

Original Contributions
Wolff-Parkinson-White Syndrome in Patients With MELAS
Douglas M. Sproule; Petra Kaufmann; Kristen Engelstad; Thomas J. Starc; Allan J. Hordof; Darryl C. De Vivo
Arch Neurol 2007; 64: 1625-1627. [Abstract] [Full text] [PDF]  

Original Contributions
Sanfilippo Syndrome Type D: Natural History and Identification of 3 Novel Mutations in the GNS Gene
An C. M. Jansen; Henian Cao; Paige Kaplan; Kenneth Silver; Gabriel Leonard; Linda De Meirleir; Willy Lissens; Inge Liebaers; Martin Veilleux; Frederick Andermann; Robert A. Hegele; Eva Andermann
Arch Neurol 2007; 64: 1629-1634. [Abstract] [Full text] [PDF]  

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]  

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