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Genetic Counseling/ Testing/ Therapy

Citations 51-60 of 122 total displayed.

Past content (since May 1998):

Original Contributions
Clinical and Genetic Heterogeneity in Progressive External Ophthalmoplegia Due to Mutations in Polymerase {gamma}
Massimiliano Filosto; Michelangelo Mancuso; Yutaka Nishigaki; Jacklyn Pancrudo; Yadollah Harati; Clifton Gooch; Ami Mankodi; Lydia Bayne; Eduardo Bonilla; Sara Shanske; Michio Hirano; Salvatore DiMauro
Arch Neurol 2003; 60: 1279-1284. [Abstract] [Full text] [PDF]  

Neurological Reviews
The Hereditary Spastic Paraplegias: Nine Genes and Counting
John K. Fink
Arch Neurol 2003; 60: 1045-1049. [Abstract] [Full text] [PDF]  

Observations
Mitochondrial Myopathy of Childhood Associated With Mitochondrial DNA Depletion and a Homozygous Mutation (T77M) in the TK2 Gene
Michelangelo Mancuso; Massimiliano Filosto; Eduardo Bonilla; Michio Hirano; Sara Shanske; Tuan H. Vu; Salvatore DiMauro
Arch Neurol 2003; 60: 1007-1009. [Abstract] [Full text] [PDF]  

Original Contributions
Disease Course of Charcot-Marie-Tooth Disease Type 2: A 5-Year Follow-up Study
Laurien L. Teunissen; Nicolette C. Notermans; Hessel Franssen; Baziel G. M. van Engelen; Frank Baas; John H. J. Wokke
Arch Neurol 2003; 60: 823-828. [Abstract] [Full text] [PDF]  

Original Contributions
Frequency Analysis and Clinical Characterization of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 in Korean Patients
Won Yong Lee; Dong Kyu Jin; Myung Ryurl Oh; Ji Eun Lee; Seng Mi Song; Eun Ah Lee; Gyeong-moon Kim; Jin Sang Chung; Kwang Ho Lee
Arch Neurol 2003; 60: 858-863. [Abstract] [Full text] [PDF]  

Basic Science Seminars in Neurology
Application of Microarrays to Neurological Disease
Lisa-Marie Sturla; Ana Fernandez-Teijeiro; Scott L. Pomeroy
Arch Neurol 2003; 60: 676-682. [Extract] [Full text] [PDF]  

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. [Abstract] [Full text] [PDF]  

Original Contributions
Molecular Diagnosis and Prophylactic Therapy for Presymptomatic Chinese Patients With Wilson Disease
Zhi-Ying Wu; Min-Ting Lin; Shen-Xing Murong; Ning Wang
Arch Neurol 2003; 60: 737-741. [Abstract] [Full text] [PDF]  

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. [Extract] [Full text] [PDF]  

Observations
Dopa-Responsive Dystonia and Tourette Syndrome in a Large Danish Family
Anne Romstad; Erik Dupont; Bente Krag-Olsen; Karen Østergaard; Per Guldberg; Flemming Güttler
Arch Neurol 2003; 60: 618-622. [Abstract] [Full text] [PDF]  

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