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Genetic Disorders

Citations 131-140 of 396 total displayed.

Past content (since Jan 1998):

Observations
X-linked Hyper-IgM Syndrome Associated With a Rapid Course of Multifocal Leukoencephalopathy
Zsuzsanna Aschermann; Eva Gomori; Gabor G. Kovacs; Endre Pal; Gabor Simon; Samuel Komoly; Laszlo Marodi; Zsolt Illes
Arch Neurol 2007; 64: 273-276. [Abstract] [Full text] [PDF]  

Images in Neurology
Extradural Arachnoid Cyst With Lumbosacral Cord and Root Compression in Marfan Syndrome
Vincenzo Di Lazzaro; Fabio Pilato; Michele Dileone; Giacomo Minicuci; Paolo Profice; Cesare Colosimo; Tommaso Tartaglione; Pietro A. Tonali
Arch Neurol 2007; 64: 284-285. [Extract] [Full text] [PDF]  

Correspondence
Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome—Reply
Elena Cellini; Paolo Forleo; Andrea Ginestroni; Benedetta Nacmias; Andrea Tedde; Silvia Bagnoli; Silvia Piacentini; Mario Mascalchi; Sandro Sorbi
Arch Neurol 2007; 64: 289-a-290-a. [Extract] [Full text] [PDF]  

Correspondence
Fragile X Syndrome vs Fragile X–Associated Tremor/Ataxia Syndrome
Maureen A. Leehey; Randi J. Hagerman; Paul J. Hagerman
Arch Neurol 2007; 64: 289. [Extract] [Full text] [PDF]  

Original Contributions
Progranulin Mutations in Primary Progressive Aphasia: The PPA1 and PPA3 Families
Marsel Mesulam; Nancy Johnson; Thomas A. Krefft; Jennifer M. Gass; Ashley D. Cannon; Jennifer L. Adamson; Eileen H. Bigio; Sandra Weintraub; Dennis W. Dickson; Michael L. Hutton; Neill R. Graff-Radford
Arch Neurol 2007; 64: 43-47. [Abstract] [Full text] [PDF]  

Original Contributions
The Association Between H63D Mutations in HFE and Amyotrophic Lateral Sclerosis in a Dutch Population
Nadia A. Sutedja; Richard J. Sinke; Paul W. J. Van Vught; Michiel W. Van der Linden; John H. J. Wokke; Cornelia M. Van Duijn; Omer T. Njajou; Yvonne T. Van der Schouw; Jan H. Veldink; Leonard H. Van den Berg
Arch Neurol 2007; 64: 63-67. [Abstract] [Full text] [PDF]  

Original Contributions
Specific Psychiatric Manifestations Among Preclinical Huntington Disease Mutation Carriers
Jeanine Marshall; Kerry White; Marjorie Weaver; Leah Flury Wetherill; Siu Hui; Julie C. Stout; Shannon A. Johnson; Xabier Beristain; Jacqueline Gray; Joanne Wojcieszek; Tatiana Foroud
Arch Neurol 2007; 64: 116-121. [Abstract] [Full text] [PDF]  

Editorials
Pedaling From Genotype to Phenotype
Salvatore DiMauro; Michio Hirano
Arch Neurol 2006; 63: 1679-1680. [Extract] [Full text] [PDF]  

Original Contributions
Muscle Phenotype and Mutation Load in 51 Persons With the 3243A>G Mitochondrial DNA Mutation
Tina D. Jeppesen; Marianne Schwartz; Anja L. Frederiksen; Flemming Wibrand; David B. Olsen; John Vissing
Arch Neurol 2006; 63: 1701-1706. [Abstract] [Full text] [PDF]  

Observations
Effect of an R69C Mutation in the Myelin Protein Zero Gene on Myelination and Ion Channel Subtypes
Yunhong Bai; Emilia Ianokova; Qin Pu; Khaled Ghandour; Rock Levinson; Jean-Jacques Martin; Chantal Ceuterick-de Groote; Radim Mazanec; Pavel Seeman; Michael E. Shy; Jun Li
Arch Neurol 2006; 63: 1787-1794. [Abstract] [Full text] [PDF]  

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