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Neurology
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All Genetics

Citations 131-140 of 676 total displayed.

Past content (since Jan 2001):

ARTICLES
New POMT2 mutations causing congenital muscular dystrophy: Identification of a founder mutation
A. Yanagisawa, C. Bouchet, P.Y.K. Van den Bergh, J. -M. Cuisset, L. Viollet, F. Leturcq, N. B. Romero, S. Quijano-Roy, M. Fardeau, N. Seta, and P. Guicheney
Neurology 2007; 69: 1254-1260. [Abstract] [Full text] [PDF]  

ARTICLES
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease
L. N. Clark, B. M. Ross, Y. Wang, H. Mejia-Santana, J. Harris, E. D. Louis, L. J. Cote, H. Andrews, S. Fahn, C. Waters, B. Ford, S. Frucht, R. Ottman, and K. Marder
Neurology 2007; 69: 1270-1277. [Abstract] [Full text] [PDF]  

VIEWS AND REVIEWS
Phenotypic clustering of lamin A/C mutations in neuromuscular patients
S. Benedetti, I. Menditto, M. Degano, C. Rodolico, L. Merlini, A. D’Amico, L. Palmucci, A. Berardinelli, E. Pegoraro, C. P. Trevisan, L. Morandi, I. Moroni, G. Galluzzi, E. Bertini, A. Toscano, M. Olivè, G. Bonne, F. Mari, R. Caldara, R. Fazio, I. Mammì, P. Carrera, D. Toniolo, G. Comi, A. Quattrini, M. Ferrari, and S. C. Previtali
Neurology 2007; 69: 1285-1292. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
THYMOMA, MYASTHENIA GRAVIS, ENCEPHALITIS, AND A NOVEL ANTICYTOPLASMIC NEURONAL ANTIBODY
Sami L. Khella, Nizar Souyah, and Josep Dalmau
Neurology 2007; 69: 1302-1303. [Full text] [PDF]  

ARTICLES
Clinicopathologic correlation in PGRN mutations
S. Davion, N. Johnson, S. Weintraub, M. -M. Mesulam, A. Engberg, M. Mishra, M. Baker, J. Adamson, M. Hutton, R. Rademakers, and E. H. Bigio
Neurology 2007; 69: 1113-1121. [Abstract] [Full text] [PDF]  

ARTICLES
Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan
M. Okada, G. Kawahara, S. Noguchi, K. Sugie, K. Murayama, I. Nonaka, Y. K. Hayashi, and I. Nishino
Neurology 2007; 69: 1035-1042. [Abstract] [Full text] [PDF]  

ARTICLES
Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia
F. Binkofski, K. Reetz, C. Gaser, R. Hilker, J. Hagenah, K. Hedrich, T. van Eimeren, A. Thiel, C. Büchel, P. P. Pramstaller, H. R. Siebner, and C. Klein
Neurology 2007; 69: 842-850. [Abstract] [Full text] [PDF]  

ARTICLES
Brain MRI in mucopolysaccharidosis: Effect of aging and correlation with biochemical findings
L. Vedolin, I.V.D. Schwartz, M. Komlos, A. Schuch, A. C. Azevedo, T. Vieira, F. K. Maeda, A. M. Marques da Silva, and R. Giugliani
Neurology 2007; 69: 917-924. [Abstract] [Full text] [PDF]  

EDITORIALS
Is familial amyloid polyneuropathy rare?: DNA testing is changing the concept of this disease
Shu-ichi Ikeda
Neurology 2007; 69: 627-628. [Full text] [PDF]  

VIEWS & REVIEWS
Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP)
V. Planté-Bordeneuve, A. Ferreira, T. Lalu, C. Zaros, C. Lacroix, D. Adams, and G. Said
Neurology 2007; 69: 693-698. [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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