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Neurology
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All Genetics

Citations 211-220 of 679 total displayed.

Past content (since Jan 2001):

BRIEF COMMUNICATIONS
Clinical features of chromosome 16q22.1 linked autosomal dominant cerebellar ataxia in Japanese
Y. Onodera, M. Aoki, H. Mizuno, H. Warita, Y. Shiga, and Y. Itoyama
Neurology 2006; 67: 1300-1302. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
N. Parkinson, P. G. Ince, M. O. Smith, R. Highley, G. Skibinski, P. M. Andersen, K. E. Morrison, H. S. Pall, O. Hardiman, J. Collinge, P. J. Shaw, EM C. Fisher on behalf of the MRC Proteomics in ALS Study and the FReJA Consortium
Neurology 2006; 67: 1074-1077. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Hypokalemic paralysis due to Gitelman syndrome: A family study
H. -Y. Ng, S. -H. Lin, C. -Y. Hsu, Y. -Z. Tsai, H. -C. Chen, and C. -T. Lee
Neurology 2006; 67: 1080-1082. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A
J. C. Mulley, P. Nelson, S. Guerrero, L. Dibbens, X. Iona, J. M. McMahon, L. Harkin, J. Schouten, S. Yu, S. F. Berkovic, and I. E. Scheffer
Neurology 2006; 67: 1094-1095. [Abstract] [Full text] [PDF]  

ARTICLES
Hippocampal volume, brain atrophy, and APOE genotype after traumatic brain injury
H. Isoniemi, T. Kurki, O. Tenovuo, V. Kairisto, and R. Portin
Neurology 2006; 67: 756-760. [Abstract] [Full text] [PDF]  

ARTICLES
Late-onset metachromatic leukodystrophy: Genotype strongly influences phenotype
H. Rauschka, B. Colsch, N. Baumann, R. Wevers, M. Schmidbauer, M. Krammer, J. -C. Turpin, M. Lefevre, C. Olivier, S. Tardieu, W. Krivit, H. Moser, A. Moser, V. Gieselmann, B. Zalc, T. Cox, U. Reuner, A. Tylki-Szymanska, F. Aboul-Enein, E. LeGuern, H. Bernheimer, and J. Berger
Neurology 2006; 67: 859-863. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A novel familial MECP2 mutation in a young boy: Clinical and molecular findings
P. Ventura, R. Galluzzi, S. M. Bacca, R. Giorda, and A. Massagli
Neurology 2006; 67: 867-868. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13
A. Levchenko, S. Provost, J. Y. Montplaisir, L. Xiong, J. St-Onge, P. Thibodeau, J. B. Rivière, A. Desautels, G. Turecki, M. P. Dubé, and G. A. Rouleau
Neurology 2006; 67: 900-901. [Abstract] [Full text] [PDF]  

EDITORIALS
Frontotemporal dementia: The post-tau era
Bernardino Ghetti and Hans H. Goebel
Neurology 2006; 67: 560-561. [Full text] [PDF]  

ARTICLES
A mutation in the fast skeletal muscle troponin I gene causes myopathy and distal arthrogryposis
E. Kimber, H. Tajsharghi, A. -K. Kroksmark, A. Oldfors, and M. Tulinius
Neurology 2006; 67: 597-601. [Abstract] [Full text] [PDF]  

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* Related collections:
 Genetics
 All Genetics
 Neurofibromatosis
 Other neurocutaneous disorders
 Genetic linkage
 Association studies in genetics
 Gene expression studies
 Gene therapy
 Mitochondrial disorders
 Ion channel gene defects
 Spinocerebellar ataxia
 Trinucleotide repeat diseases
 Chromosomes


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