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Neurology
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All Genetics

Citations 181-190 of 676 total displayed.

Past content (since Jan 2001):

EDITORIALS
Enzyme replacement for infantile Pompe disease: The first step toward a cure
Kathryn R. Wagner
Neurology 2007; 68: 88-89. [Full text] [PDF]  

ARTICLES
Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype
M. A. Kroos, R. J. Pomponio, M. L. Hagemans, J.L.M. Keulemans, M. Phipps, M. DeRiso, R. E. Palmer, M. G.E.M. Ausems, N. A.M.E. Van der Beek, O. P. Van Diggelen, D. J.J. Halley, A. T. Van der Ploeg, and A. J.J. Reuser
Neurology 2007; 68: 110-115. [Abstract] [Full text] [PDF]  

ARTICLES
A genotype of exceptional longevity is associated with preservation of cognitive function
N. Barzilai, G. Atzmon, C. A. Derby, J. M. Bauman, and R. B. Lipton
Neurology 2006; 67: 2170-2175. [Abstract] [Full text] [PDF]  

ARTICLES
Herbicide exposure modifies GSTP1 haplotype association to Parkinson onset age: The GenePD Study
J. B. Wilk, J. E. Tobin, O. Suchowersky, H. A. Shill, C. Klein, G. F. Wooten, M. F. Lew, M. H. Mark, M. Guttman, R. L. Watts, C. Singer, J. H. Growdon, J. C. Latourelle, M. H. Saint-Hilaire, A. L. DeStefano, R. Prakash, S. Williamson, C. J. Berg, M. Sun, S. Goldwurm, G. Pezzoli, B. A. Racette, J. S. Perlmutter, A. Parsian, K. B. Baker, M. L. Giroux, I. Litvan, P. P. Pramstaller, G. Nicholson, D. J. Burn, P. F. Chinnery, P. Vieregge, J. T. Slevin, F. Cambi, M. E. MacDonald, J. F. Gusella, R. H. Myers, and L. I. Golbe
Neurology 2006; 67: 2206-2210. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
A founder haplotype for autosomal dominant sensory ataxia in Eastern Canada
P. N. Valdmanis, D. Brunet, J. St-Onge, L. Weston, G. A. Rouleau, and N. Dupré
Neurology 2006; 67: 2239-2242. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Unusual features in a boy with the rapsyn N88K mutation
G. O. Skeie, H. Aurlien, J. S. Müller, H. Lochmüller, G. Norgård, and L. A. Bindoff
Neurology 2006; 67: 2262-2263. [Full text] [PDF]  

EDITORIALS
The spastin jigsaw puzzle: Another missing piece found
Peter Hedera
Neurology 2006; 67: 1912-1913. [Full text] [PDF]  

ARTICLES
High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia
C. Beetz, A.O.H. Nygren, J. Schickel, M. Auer-Grumbach, K. Bürk, G. Heide, J. Kassubek, S. Klimpe, T. Klopstock, F. Kreuz, S. Otto, R. Schüle, L. Schöls, A. -D. Sperfeld, O. W. Witte, and T. Deufel
Neurology 2006; 67: 1926-1930. [Abstract] [Full text] [PDF]  

ARTICLES
Proof of genetic heterogeneity in X-linked Charcot–Marie–Tooth disease
I. G. Huttner, M. L. Kennerson, S. W. Reddel, D. Radovanovic, and G. A. Nicholson
Neurology 2006; 67: 2016-2021. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations
E. Stogmann, P. Lichtner, C. Baumgartner, S. Bonelli, E. Assem-Hilger, F. Leutmezer, M. Schmied, C. Hotzy, T. M. Strom, T. Meitinger, F. Zimprich, and A. Zimprich
Neurology 2006; 67: 2029-2031. [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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