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Neurology
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All Genetics

Citations 511-520 of 679 total displayed.

Past content (since Jan 2001):

BRIEF COMMUNICATIONS
Single section Western blot: Improving the molecular diagnosis of the muscular dystrophies
Sandra T. Cooper, Harriet P. Lo, and Kathryn N. North
Neurology 2003; 61: 93-97. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Tau exon 10 +16 mutation FTDP-17 presenting clinically as sporadic young onset PSP
H.R. Morris, Y. Osaki, J. Holton, A.J. Lees, N.W. Wood, T. Revesz, and N. Quinn
Neurology 2003; 61: 102-104. [Abstract] [Full text] [PDF]  

ARTICLES
Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy
R. Nabbout, E. Gennaro, B. Dalla Bernardina, O. Dulac, F. Madia, E. Bertini, G. Capovilla, C. Chiron, G. Cristofori, M. Elia, E. Fontana, R. Gaggero, T. Granata, R. Guerrini, M. Loi, L. La Selva, M. L. Lispi, A. Matricardi, A. Romeo, V. Tzolas, D. Valseriati, P. Veggiotti, F. Vigevano, L. Vallée, F. Dagna Bricarelli, A. Bianchi, and F. Zara
Neurology 2003; 60: 1961-1967. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Modulation of the onset age in primary dystonia by APOE genotype
S. Matsumoto, M. Nishimura, T. Sakamoto, K. Asanuma, Y. Izumi, H. Shibasaki, N. Kamatani, T. Nakamura, and R. Kaji
Neurology 2003; 60: 2003-2005. [Abstract] [Full text] [PDF]  

ARTICLES
Dysferlin mutations in Japanese Miyoshi myopathy: Relationship to phenotype
T. Takahashi, M. Aoki, M. Tateyama, E. Kondo, T. Mizuno, Y. Onodera, R. Takano, H. Kawai, K. Kamakura, H. Mochizuki, M. Shizuka-Ikeda, M. Nakagawa, Y. Yoshida, J. Akanuma, K. Hoshino, H. Saito, M. Nishizawa, S. Kato, K. Saito, T. Miyachi, H. Yamashita, M. Kawai, T. Matsumura, S. Kuzuhara, T. Ibi, K. Sahashi, H. Nakai, T. Kohnosu, I. Nonaka, K. Arahata, R.H. Brown, Jr., H. Saito, and Y. Itoyama
Neurology 2003; 60: 1799-1804. [Abstract] [Full text] [PDF]  

ARTICLES
Rapsyn N88K is a frequent cause of congenital myasthenic syndromes in European patients
J. S. Müller, G. Mildner, W. Müller–Felber, U. Schara, K. Krampfl, B. Petersen, S. Petrova, R. Stucka, W. Mortier, J. Bufler, G. Kurlemann, A. Huebner, L. Merlini, H. Lochmüller, and A. Abicht
Neurology 2003; 60: 1805-1810. [Abstract] [Full text] [PDF]  

BRIEF COMMUNICATIONS
Telomerase reactivation in malignant gliomas and loss of heterozygosity on 10p15.1
P. Leuraud, L. Aguirre-Cruz, K. Hoang-Xuan, E. Crinière, M-L. Tanguy, J-L. Golmard, M. Kujas, J-Y. Delattre, and M. Sanson
Neurology 2003; 60: 1820-1822. [Abstract] [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
HNPP due to a novel missense mutation of the PMP22 gene
Hiroyuki Nodera, Masataka Nishimura, Eric L. Logigian, David N. Herrmann, and Ryuji Kaji
Neurology 2003; 60: 1863-1864. [Full text] [PDF]  

CLINICAL/SCIENTIFIC NOTES
Monozygotic twin sisters suffering from cluster headache and migraine without aura
S. Schuh-Hofer, A. Meisel, U. Reuter, and G. Arnold
Neurology 2003; 60: 1864-1865. [Full text] [PDF]  

ARTICLES
Parkin-proven disease: Common founders but divergent phenotypes
S. Lincoln, J. Wiley, T. Lynch, J. W. Langston, R. Chen, A. Lang, E. Rogaeva, D. S. Sa, R. P. Munhoz, J. Harris, K. Marder, C. Klein, G. Bisceglio, J. Hussey, A. West, M. Hulihan, J. Hardy, and M. Farrer
Neurology 2003; 60: 1605-1610. [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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