Neurogenetics

Contributing journals to this collection:
JAMA & Archives Journals

Citations 411-420 of 623 total displayed.

Past content

Observations
Association of Mutations in SCO2, a Cytochrome c Oxidase Assembly Gene, With Early Fetal Lethality

Stacey K. H. Tay; Sara Shanske; Paige Kaplan; Salvatore DiMauro
Arch Neurol 2004; 61: 950-952. [Abstract] [Full text] [PDF]  

Neurological Reviews
Genetic Basis of Developmental Malformations of the Cerebral Cortex

Ganeshwaran H. Mochida; Christopher A. Walsh
Arch Neurol 2004; 61: 637-640. [Abstract] [Full text] [PDF]  

Original Contributions
Extreme Variability of Phenotype in Patients With an Identical Missense Mutation in the Lamin A/C Gene: From Congenital Onset With Severe Phenotype to Milder Classic Emery-Dreifuss Variant

Eugenio Mercuri; Maja Poppe; Ros Quinlivan; Sonia Messina; Maria Kinali; Laurence Demay; John Bourke; Pascale Richard; Caroline Sewry; Mike Pike; Gisèle Bonne; Francesco Muntoni; Kate Bushby
Arch Neurol 2004; 61: 690-694. [Abstract] [Full text] [PDF]  

Original Contributions
Clinical Findings in a Large Family With a Parkin Ex340 Mutation

Renato P. Munhoz; Daniel S. Sa; Ekaterina Rogaeva; Shabnam Salehi-Rad; Christine Sato; Helena Medeiros; Matthew Farrer; Anthony E. Lang
Arch Neurol 2004; 61: 701-704. [Abstract] [Full text] [PDF]  

Original Contributions
Molecular Genetics of Hereditary Spinocerebellar Ataxia: Mutation Analysis of Spinocerebellar Ataxia Genes and CAG/CTG Repeat Expansion Detection in 225 Italian Families

Alfredo Brusco; Cinzia Gellera; Claudia Cagnoli; Alessandro Saluto; Alessia Castucci; Chiara Michielotto; Vincenza Fetoni; Caterina Mariotti; Nicola Migone; Stefano Di Donato; Franco Taroni
Arch Neurol 2004; 61: 727-733. [Abstract] [Full text] [PDF]  

Correspondence
Genotype–Phenotype Correlation in Early-onset Alzheimer Disease With Presenilin 1 Gene Mutations

A. J. Larner
Arch Neurol 2004; 61: 801. [Extract] [Full text] [PDF]  

Basic Science Seminars in Neurology
Molecular Basis of Inherited Epilepsy

Alfred L. George Jr
Arch Neurol 2004; 61: 473-478. [Extract] [Full text] [PDF]  

Original Contributions
Brief Presence of Varicella-zoster Viral DNA in Mononuclear Cells During Relapses of Multiple Sclerosis

Graciela Ordoñez; Benjamin Pineda; Roberto Garcia-Navarrete; Julio Sotelo
Arch Neurol 2004; 61: 529-532. [Abstract] [Full text] [PDF]  

Original Contributions
Influence of Apolipoprotein E 4 Genotype on Brain Tissue Integrity in Relapsing-Remitting Multiple Sclerosis

Nicola De Stefano; Maria Letizia Bartolozzi; Benedetta Nacmias; Valentina Zipoli; Marzia Mortilla; Leonello Guidi; Gianfranco Siracusa; Sandro Sorbi; Antonio Federico; Maria Pia Amato
Arch Neurol 2004; 61: 536-540. [Abstract] [Full text] [PDF]  

Observations
Acute Unilateral Visual Loss as the First Symptom of Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy

Alessandra Rufa; Nicola De Stefano; Maria Teresa Dotti; Silvia Bianchi; Francesco Sicurelli; Maria Laura Stromillo; Bruno D'Aniello; Antonio Federico
Arch Neurol 2004; 61: 577-580. [Abstract] [Full text] [PDF]  

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