A locus for bilateral perisylvian polymicrogyria maps to Xq28.
Villard L, Nguyen K, Cardoso C, Martin CL, Weiss AM, Sifry-Platt M, Grix AW, Graham JM, Winter RM, Leventer RJ, Dobyns WB - American journal of human genetics - Avr 2002
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Discharge patterns of hypoglossal motoneurons during fictive breathing, coughing, and swallowing.
Roda F, Gestreau C, Bianchi AL - Journal of neurophysiology - Avr 2002
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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation.
Rio M, Molinari F, Heuertz S, Ozilou C, Gosset P, Raoul O, Cormier-Daire V, Amiel J, Lyonnet S, Le Merrer M, Turleau C, de Blois MC, Prieur M, Romana S, Vekemans M, Munnich A, Colleaux L - Journal of medical genetics - Avr 2002
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Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N - American journal of human genetics - Mar 2002
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Neurofascin is a glial receptor for the paranodin/Caspr-contactin axonal complex at the axoglial junction.
Charles P, Tait S, Faivre-Sarrailh C, Barbin G, Gunn-Moore F, Denisenko-Nehrbass N, Guennoc AM, Girault JA, Brophy PJ, Lubetzki C - Current biology : CB - Fev 2002
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New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families.
Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P - Gene - Fev 2002
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A molecular view on paranodal junctions of myelinated fibers.
Denisenko-Nehrbass N, Faivre-Sarrailh C, Goutebroze L, Girault JA - Journal of physiology, Paris - Mar Jan 2002
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Clinical and molecular basis of classical lissencephaly: Mutations in the LIS1 gene (PAFAH1B1).
Cardoso C, Leventer RJ, Dowling JJ, Ward HL, Chung J, Petras KS, Roseberry JA, Weiss AM, Das S, Martin CL, Pilz DT, Dobyns WB, Ledbetter DH - Human mutation - Jan 2002
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