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All Genetics
Citations 91-100 of 676 total displayed.
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Past content
(since Jan 2001):
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- ARTICLES
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
- M. T. Medina, T. Suzuki, M. E. Alonso, R. M. Durón, I. E. Martínez-Juárez, J. N. Bailey, D. Bai, Y. Inoue, I. Yoshimura, S. Kaneko, M. C. Montoya, A. Ochoa, A. Jara Prado, M. Tanaka, J. Machado-Salas, S. Fujimoto, M. Ito, S. Hamano, K. Sugita, Y. Ueda, M. Osawa, H. Oguni, F. Rubio-Donnadieu, K. Yamakawa, and A. V. Delgado-Escueta
Neurology 2008; 70: 2137-2144.
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- ARTICLES
The p.Val66Met polymorphism in the BDNF gene protects against early seizures in Rett syndrome
- J. Nectoux, N. Bahi-Buisson, I. Guellec, J. Coste, N. De Roux, H. Rosas, M. Tardieu, J. Chelly, and T. Bienvenu
Neurology 2008; 70: 2145-2151.
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- ARTICLES
Silver syndrome variant of hereditary spastic paraplegia: A locus to 4p and allelism with SPG4
- A. Orlacchio, C. Patrono, F. Gaudiello, C. Rocchi, V. Moschella, R. Floris, G. Bernardi, and T. Kawarai
Neurology 2008; 70: 1959-1966.
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- ARTICLES
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations
- G. A. Nicholson, C. Magdelaine, D. Zhu, S. Grew, M. M. Ryan, F. Sturtz, J. -M. Vallat, and R. A. Ouvrier
Neurology 2008; 70: 1678-1681.
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- ARTICLES
A novel PSEN2 mutation associated with a peculiar phenotype
- P. Piscopo, G. Marcon, M. R. Piras, A. Crestini, L. Malvezzi Campeggi, E. Deiana, R. Cherchi, F. Tanda, A. Deplano, N. Vanacore, F. Tagliavini, M. Pocchiari, G. Giaccone, and A. Confaloni
Neurology 2008; 70: 1549-1554.
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- EDITORIALS
Will my Rett syndrome patient walk, talk, and use her hands?
- Yuzhi Zhang and Berge A. Minassian
Neurology 2008; 70: 1302-1303.
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- ARTICLES
Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome
- J. L. Neul, P. Fang, J. Barrish, J. Lane, E. B. Caeg, E. O. Smith, H. Zoghbi, A. Percy, and D. G. Glaze
Neurology 2008; 70: 1313-1321.
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- CLINICAL/SCIENTIFIC NOTES
EXTRACEPHALIC CLUSTER (CLUSTER SINE HEADACHE)
- Esma Dilli and David W. Dodick
Neurology 2008; 70: 1362-1363.
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- EDITORIALS
Complicated autosomal recessive hereditary spastic paraplegia: A complex picture is emerging
- Peter Hedera and Oliver Bandmann
Neurology 2008; 70: 1375-1376.
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- ARTICLES
FMR1 CGG repeat length predicts motor dysfunction in premutation carriers
- M. A. Leehey, E. Berry-Kravis, C. G. Goetz, L. Zhang, D. A. Hall, L. Li, C. D. Rice, R. Lara, J. Cogswell, A. Reynolds, L. Gane, S. Jacquemont, F. Tassone, J. Grigsby, R. J. Hagerman, and P. J. Hagerman
Neurology 2008; 70: 1397-1402.
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