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Neurology
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Trinucleotide repeat diseases

Citations 1-10 of 55 total displayed.

Most recent content (20 Oct 2009):

EDITORIALS
Huntington disease: A tale of two genes
Nayana Lahiri and Sarah J. Tabrizi
Neurology 2009; 73: 1254-1255. [Full text] [PDF]  

ARTICLES
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
N. A. Aziz, C. K. Jurgens, G. B. Landwehrmeyer, EHDN Registry Study Group, W.M.C. van Roon-Mom, G. J.B. van Ommen, T. Stijnen, and R. A.C. Roos
Neurology 2009; 73: 1280-1285. [Abstract] [Full text] [PDF]  

Past content (since Jan 2001):

EDITORIALS
Huntington disease. A tale of two genes
Nayana Lahiri and Sarah J. Tabrizi
Neurology first published on September 23, 2009 as doi: WNL.0b013e3181beed15. Rapid PDF  

ARTICLES
Normal and mutant HTT interact to affect clinical severity and progression in Huntington disease
N. A. Aziz, C. K. Jurgens, G. B. Landwehrmeyer, on behalf of the EHDN Registry Study Group, W. M.C. van Roon-Mom, G. J.B. van Ommen, T. Stijnen, and R. A.C. Roos
Neurology first published on September 23, 2009 as doi: WNL.0b013e3181bd1121. [Abstract] Rapid PDF  

ARTICLES
Cognitive impairment and reduced life span of oculopharyngeal muscular dystrophy homozygotes
S. C. Blumen, J. -P. Bouchard, B. Brais, R. L. Carasso, D. Paleacu, V. E. Drory, S. Chantal, N. Blumen, and I. Braverman
Neurology 2009; 73: 596-601. [Abstract] [Full text] [PDF]  

EDITORIALS
How much expansion to be diseased?: Toward repeat size and myotonic dystrophy type 2
Benedikt Schoser and Tetsuo Ashizawa
Neurology 2009; 72: 484-485. [Full text] [PDF]  

ARTICLES
Premutation allele pool in myotonic dystrophy type 2
L. L. Bachinski, T. Czernuszewicz, L. S. Ramagli, T. Suominen, M. D. Shriver, B. Udd, M. J. Siciliano, and R. Krahe
Neurology 2009; 72: 490-497. [Abstract] [Full text] [PDF]  

ARTICLES
Effect of aerobic training in patients with spinal and bulbar muscular atrophy (Kennedy disease)
N. Preisler, G. Andersen, F. Thøgersen, C. Crone, T. D. Jeppesen, F. Wibrand, and J. Vissing
Neurology 2009; 72: 317-323. [Abstract] [Full text] [PDF]  

ARTICLES
Natural history of spinal-bulbar muscular atrophy
Nizar Chahin, Christopher Klein, Jayawant Mandrekar, and Eric Sorenson
Neurology 2008; 70: 1967-1971. [Abstract] [Full text] [PDF]  

ARTICLES
Aberrantly spliced {alpha}-dystrobrevin alters {alpha}-syntrophin binding in myotonic dystrophy type 1
M. Nakamori, T. Kimura, T. Kubota, T. Matsumura, H. Sumi, H. Fujimura, M. P. Takahashi, and S. Sakoda
Neurology 2008; 70: 677-685. [Abstract] [Full text] [PDF]  

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 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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