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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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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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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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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Neurokinin release in the rat nucleus of the solitary tract via NMDA and AMPA receptors.
Colin I, Blondeau C, Baude A - Neuroscience - Jan 2002
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Hippocampal pyramidal cell-interneuron spike transmission is frequency dependent and responsible for place modulation of interneuron discharge.
Marshall L, Henze DA, Hirase H, Leinekugel X, Dragoi G, Buzsáki G - The Journal of neuroscience : the official journal of the Society for Neuroscience - Jan 2002
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Fluorescence genotyping for screening cryptic telomeric rearrangements.
Colleaux L, Heuertz S, Molinari F, Rio M - Methods in molecular biology (Clifton, N.J.) - Jan 2002
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