Neurogenetics

Citations 361-370 of 574 total displayed.

Past content (since May 1998):

Original Contributions
No Mutations in CACNA1A and ATP1A2 in Probands With Common Types of Migraine

Joanna C. Jen; Gilbert W. Kim; Kristen A. Dudding; Robert W. Baloh
Arch Neurol 2004; 61: 926-928. [Abstract] [Full text] [PDF]  

Original Contributions
Quantitative Assessment of Cerebral Blood Flow in Genetically Confirmed Spinocerebellar Ataxia Type 6

Kie Honjo; Tomohiko Ohshita; Hideshi Kawakami; Hiromitsu Naka; Yukari Imon; Hirofumi Maruyama; Yasuyo Mimori; Masayasu Matsumoto
Arch Neurol 2004; 61: 933-937. [Abstract] [Full text] [PDF]  

Observations
A Novel NOTCH3 Frameshift Deletion and Mitochondrial Abnormalities in a Patient With CADASIL

Maria Teresa Dotti; Nicola De Stefano; Silvia Bianchi; Alessandro Malandrini; Carla Battisti; Elena Cardaioli; Antonio Federico
Arch Neurol 2004; 61: 942-945. [Abstract] [Full text] [PDF]  

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]  

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