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
en savoir plus+
en savoir plus+
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
en savoir plus+
en savoir plus+
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
en savoir plus+
en savoir plus+
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
en savoir plus+
en savoir plus+
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
en savoir plus+
en savoir plus+
Neurokinin-1 and neurokinin-3 receptors are expressed in vagal efferent neurons that innervate different parts of the gastro-intestinal tract.
Blondeau C, Clerc N, Baude A - Neuroscience - Jan 2002
en savoir plus+
en savoir plus+
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
en savoir plus+
en savoir plus+
Neurokinin release in the rat nucleus of the solitary tract via NMDA and AMPA receptors.
Colin I, Blondeau C, Baude A - Neuroscience - Jan 2002
en savoir plus+
en savoir plus+