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Genetic Disorders

Citations 111-120 of 396 total displayed.

Past content (since Jan 1998):

Observations
Limb-Girdle Muscular Dystrophy Due to Emerin Gene Mutations
Shigehisa Ura; Yukiko K. Hayashi; Kanako Goto; Mina Nolasco Astejada; Terumi Murakami; Masako Nagato; Shigeru Ohta; Yasuhisa Daimon; Hidehiro Takekawa; Koichi Hirata; Ikuya Nonaka; Satoru Noguchi; Ichizo Nishino
Arch Neurol 2007; 64: 1038-1041. [Abstract] [Full text] [PDF]  

Research Letters
Glucocerebrosidase Mutations and Risk of Parkinson Disease in Chinese Patients
Eng-King Tan; Justina Tong; Stephanie Fook-Chong; Yuen Yih; Meng-Cheong Wong; Ratnagopal Pavanni; Yi Zhao
Arch Neurol 2007; 64: 1056-1058. [Extract] [Full text] [PDF]  

Editorials
Juvenile-Onset Huntington Disease: A Matter of Perspective
Kevin Biglan; Ira Shoulson
Arch Neurol 2007; 64: 783-784. [Extract] [Full text] [PDF]  

Clinical Trials
Safety, Tolerability, and Pharmacokinetics of High-Dose Idebenone in Patients With Friedreich Ataxia
Nicholas A. Di Prospero; Charlotte J. Sumner; Scott R. Penzak; Bernard Ravina; Kenneth H. Fischbeck; J. Paul Taylor
Arch Neurol 2007; 64: 803-808. [Abstract] [Full text] [PDF]  

Original Contributions
Psychiatric and Cognitive Difficulties as Indicators of Juvenile Huntington Disease Onset in 29 Patients
Pascale Ribaï; Karine Nguyen; Valérie Hahn-Barma; Isabelle Gourfinkel-An; Marie Vidailhet; Antoine Legout; Catherine Dodé; Alexis Brice; Alexandra Dürr
Arch Neurol 2007; 64: 813-819. [Abstract] [Full text] [PDF]  

Original Contributions
Clinical, Magnetic Resonance Imaging, and Genetic Study of 5 Italian Families With Cerebral Cavernous Malformation
Stefania Battistini; Raffaele Rocchi; Alfonso Cerase; Alberto Citterio; Laura Tassi; Giuliana Lando; Maria Cristina Patrosso; Rosita Galli; Paola Brunori; Domenica L. Sgrò; Giovanni Pitillo; Giorgio Lo Russo; Alessandro Marocchi; Silvana Penco
Arch Neurol 2007; 64: 843-848. [Abstract] [Full text] [PDF]  

Original Contributions
Neuropsychological Measures in Normal Individuals That Predict Subsequent Cognitive Decline
Deborah Blacker; Hang Lee; Alona Muzikansky; Emily C. Martin; Rudolph Tanzi; John J. McArdle; Mark Moss; Marilyn Albert
Arch Neurol 2007; 64: 862-871. [Abstract] [Full text] [PDF]  

Correspondence
Cardiac Involvement in Bethlem Myopathy—Reply
Anneke J. van der Kooi; Willem G. de Voogt; Marianne de Visser
Arch Neurol 2007; 64: 915-a-916-a. [Extract] [Full text] [PDF]  

Correspondence
Cardiac Involvement in Bethlem Myopathy
Josef Finsterer; Claudia Stöllberger
Arch Neurol 2007; 64: 915. [Extract] [Full text] [PDF]  

Observations
A New Episodic Ataxia Syndrome With Linkage to Chromosome 19q13
Kevin A. Kerber; Joanna C. Jen; Hane Lee; Stanley F. Nelson; Robert W. Baloh
Arch Neurol 2007; 64: 749-752. [Abstract] [Full text] [PDF]  

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