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Linkage analysis and disease models in benign familial infantile seizures: a study of 16 families.
Epilepsia. 2006 Jun;47(6):1029-34. doi: 10.1111/j.1528-1167.2006.00521.x.
Epilepsia. 2006.
PMID: 16822249
Free article.
A novel SCN2A mutation in family with benign familial infantile seizures.
Striano P, Bordo L, Lispi ML, Specchio N, Minetti C, Vigevano F, Zara F.
Striano P, et al. Among authors: bordo l.
Epilepsia. 2006 Jan;47(1):218-20. doi: 10.1111/j.1528-1167.2006.00392.x.
Epilepsia. 2006.
PMID: 16417554
Free article.
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Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations.
Bonanni P, Malcarne M, Moro F, Veggiotti P, Buti D, Ferrari AR, Parrini E, Mei D, Volzone A, Zara F, Heron SE, Bordo L, Marini C, Guerrini R.
Bonanni P, et al. Among authors: bordo l.
Epilepsia. 2004 Feb;45(2):149-58. doi: 10.1111/j.0013-9580.2004.04303.x.
Epilepsia. 2004.
PMID: 14738422
Free article.
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Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy.
Berkovic SF, Heron SE, Giordano L, Marini C, Guerrini R, Kaplan RE, Gambardella A, Steinlein OK, Grinton BE, Dean JT, Bordo L, Hodgson BL, Yamamoto T, Mulley JC, Zara F, Scheffer IE.
Berkovic SF, et al. Among authors: bordo l.
Ann Neurol. 2004 Apr;55(4):550-7. doi: 10.1002/ana.20029.
Ann Neurol. 2004.
PMID: 15048894
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Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract.
Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C.
Zara F, et al. Among authors: bordo l.
Nat Genet. 2006 Oct;38(10):1111-3. doi: 10.1038/ng1870. Epub 2006 Sep 3.
Nat Genet. 2006.
PMID: 16951682
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Phenotypic characterization of hypomyelination and congenital cataract.
Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C.
Biancheri R, et al. Among authors: bordo l.
Ann Neurol. 2007 Aug;62(2):121-7. doi: 10.1002/ana.21175.
Ann Neurol. 2007.
PMID: 17683097
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