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Genetic Disorders
Citations 251-260 of 396 total displayed.
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Past content
(since Jan 1998):
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- Original Contributions
Expanding the Phenotypic Spectrum of the CACNA1A Gene T666M Mutation: A Description of 5 Families With Familial Hemiplegic Migraine
- E. E. Kors; J. Haan; N. J. Giffin; L. Pazdera; C. Schnittger; G. G. Lennox; G. M. Terwindt; F. L. M. J. Vermeulen; A. M. J. M. Van den Maagdenberg; R. R. Frants; M. D. Ferrari
Arch Neurol 2003; 60: 684-688.
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- Original Contributions
A Common NURR1 Polymorphism Associated With Parkinson Disease and Diffuse Lewy Body Disease
- Kangni Zheng; Bobak Heydari; David K. Simon
Arch Neurol 2003; 60: 722-725.
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- Observations
Congenital Myasthenic Syndrome With Episodic Apnea in Patients Homozygous for a CHAT Missense Mutation
- Simone Kraner; Iris Laufenberg; Hans M. Straßburg; Joern P. Sieb; Ortrud K. Steinlein
Arch Neurol 2003; 60: 761-763.
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- Editorials
Genetics of Charcot-Marie-Tooth Disease
- David E. Pleasure
Arch Neurol 2003; 60: 481-482.
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- Basic Science Seminars in Neurology
M-Channels: Neurological Diseases, Neuromodulation, and Drug Development
- Edward C. Cooper; Lily Y. Jan
Arch Neurol 2003; 60: 496-500.
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- Special Articles
Screening for Mutations in the MECP2 (Rett Syndrome) Gene in Gilles de la Tourette Syndrome
- Alberto L. Rosa; Joseph Jankovic; Tetsuo Ashizawa
Arch Neurol 2003; 60: 502-503.
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- Original Contributions
Evidence of Oxidative Stress in Familial Amyloidotic Polyneuropathy Type 1
- Mónica L. Fiszman; Marianna Di Egidio; Karina C. Ricart; Marisa G. Repetto; Laura N. Borodinsky; Susana F. Llesuy; Roberto D. Saizar; Pedro L. Trigo; Symon Riedstra; Paulo P. Costa; Andrés M. Villa; Nestor Katz; Javier C. Lendoire; Roberto E. P. Sica
Arch Neurol 2003; 60: 593-597.
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- Observations
Phenotypical Features of a Moroccan Family With Autosomal Recessive Charcot-Marie-Tooth Disease Associated With the S194X Mutation in the GDAP1 Gene
- Nazha Birouk; Hamid Azzedine; Odile Dubourg; Marie-Paule Muriel; Ali Benomar; Tarik Hamadouche; Thierry Maisonobe; Reda Ouazzani; Alexis Brice; Mohamed Yahyaoui; Taïb Chkili; Eric Le Guern
Arch Neurol 2003; 60: 598-604.
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- Observations
Transient, Recurrent, White Matter Lesions in X-linked Charcot-Marie-Tooth Disease With Novel Connexin 32 Mutation
- C. Oliver Hanemann; Carsten Bergmann; Jan Senderek; Klaus Zerres; Ann-Dorte Sperfeld
Arch Neurol 2003; 60: 605-609.
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- Observations
Phenotypes of Spinocerebellar Ataxia Type 6 and Familial Hemiplegic Migraine Caused by a Unique CACNA1A Missense Mutation in Patients From a Large Family
- Isabel Alonso; José Barros; Assunção Tuna; João Coelho; Jorge Sequeiros; Isabel Silveira; Paula Coutinho
Arch Neurol 2003; 60: 610-614.
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