Search Results - "PINARD, J. M"

Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations by Bahi-Buisson, N, Poirier, K, Boddaert, N, Saillour, Y, Castelnau, L, Philip, N, Buyse, G, Villard, L, Joriot, S, Marret, S, Bourgeois, M, Van Esch, H, Lagae, L, Amiel, J, Hertz-Pannier, L, Roubertie, A, Rivier, F, Pinard, J M, Beldjord, C, Chelly, J

“…We have recently shown that de novo mutations in the TUBA1A gene are responsible for a wide spectrum of neuronal migration disorders. To better define the…”
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Doublecortin Is the Major Gene Causing X-Linked Subcortical Laminar Heterotopia (SCLH) by des Portes, Vincent, Francis, Fiona, Pinard, Jean-Marc, Desguerre, Isabelle, Moutard, Marie-Laure, Snoeck, Irina, Meiners, Linda C., Capron, François, Cusmai, Raffaella, Ricci, Stefano, Motte, Jacques, Echenne, Bernard, Ponsot, Gérard, Dulac, Olivier, Chelly, Jamel, Beldjord, Cherif

“…Subcortical laminar heterotopia (SCLH), or ‘double cortex’, is a cortical dysgenesis disorder associated with a defect in neuronal migration. Clinical…”
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Callosotomy for Epilepsy After West Syndrome by Pinard, J. M., Delalande, O., Chiron, C., Soufflet, C., Plouin, P., Kim, Y., Dulac, O.

“…Purpose: To analyze the results of callosotomy in 17 children with symptomatic generalized epilepsy after West syndrome, according to the different seizure…”
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Functional MRI in double cortex : Functionality of heterotopia by PINARD, J.-M, FEYDY, A, CARLIER, R, PEREZ, N, PIEROT, L, BURNOD, Y

“…A 12-year-old boy with epilepsy and subcortical laminar heterotopia (band heterotopia) underwent a functional MRI protocol to study voluntary motor activity in…”
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Diffuse cortical dysplasia, or the double cortex syndrome : the clinical and epileptic spectrum in 10 patients by PALMINI, A, ANDERMANN, F, ANDERMANN, E, ROBITAILLE, Y, AICARDI, J, DULAC, O, CHAVES, F, PONSOT, G, PINARD, J. M, GOUTIERES, F, LIVINGSTON, J, TAMPIERI, D

“…Diffuse neuronal migration disorders associated with epilepsy can now be recognized by modern neuroimaging techniques, particularly high-resolution MRI. We…”
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Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene by Pinard, J M, Motte, J, Chiron, C, Brian, R, Andermann, E, Dulac, O

“…Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of…”
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X-linked malformations of neuronal migration by Dobyns, W. B., Andermann, E., Andermann, F., Czapansky-Beilman, D., Dubeau, F., Dulac, O., Guerrini, R., Hirsch, B., Ledbetter, D. H., Lee, N. S., Motte, J., Pinard, J.-M., Radtke, R. A., Ross, M. E., Tampieri, D., Walsh, C. A., Truwit, C. L.

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Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22 by des Portes, V, Pinard, J M, Smadja, D, Motte, J, Boespflüg-Tanguy, O, Moutard, M L, Desguerre, I, Billuart, P, Carrie, A, Bienvenu, T, Vinet, M C, Bachner, L, Beldjord, C, Dulac, O, Kahn, A, Ponsot, G, Chelly, J

“…X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/ LIS) is an intriguing disorder of cortical development, which causes classical…”
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Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency by Lamer, S, Carlier, R Y, Pinard, J M, Mompoint, D, Bagard, C, Burdairon, E, Estournet, B, Barois, A, Vallée, C

“…To evaluate the brain magnetic resonance (MR) imaging findings in patients with the "classic" form of congenital muscular dystrophy (patients with normal…”
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Callosotomy in West syndrome suggests a cortical origin of hypsarrhythmia by Pinard, J M, Delalande, O, Plouin, P, Dulac, O

“…Hypsarrhythmia and spasms of West syndrome have been postulated by some investigators to have a brainstem origin. Cortical involvement is also postulated…”
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A Novel CNS Gene Required for Neuronal Migration and Involved in X-Linked Subcortical Laminar Heterotopia and Lissencephaly Syndrome by Portes, Vincent des, Pinard, Jean Marc, Billuart, Pierre, Vinet, Marie Claude, Koulakoff, Annette, Carrié, Alain, Gelot, Antoinette, Dupuis, Elisabeth, Motte, Jacques, Berwald-Netter, Yoheved, Catala, Martin, Kahn, Axel, Beldjord, Cherif, Chelly, Jamel

“…X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band…”
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So-called 'cryptogenic' partial seizures resulting from a subtle cortical dysgenesis due to a doublecortin gene mutation by des Portes, V, Abaoub, L, Joannard, A, Souville, I, Francis, F, Pinard, J M, Chelly, J, Beldjord, C, Jouk, P S

“…We report the case of a female suffering from resistant partial seizures, which were related to 'cryptogenic' epilepsy, as the cerebral cortex was considered…”
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West syndrome due to perinatal insults by Cusmai, R, Ricci, S, Pinard, J M, Plouin, P, Fariello, G, Dulac, O

“…Clinical, neuroradiological data and outcome of epilepsy of 32 patients with symptomatic infantile spasms caused by perinatal insults are reported…”
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Subcortical laminar heterotopia in two sisters and their mother: MRI, clinical findings and pathogenesis by van der Valk, P H, Snoeck, I, Meiners, L C, des Portes, V, Chelly, J, Pinard, J M, Ippel, P F, van Nieuwenhuizen, O, Peters, A C

“…MR imaging, clinical data and underlying pathogenesis of subcortical laminar heterotopia (SCLH), also known as band heterotopia, in two sisters and their…”
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X-linked malformations of neuronal migration by Dobyns, W B, Andermann, E, Andermann, F, Czapansky-Beilman, D, Dubeau, F, Dulac, O, Guerrini, R, Hirsch, B, Ledbetter, D H, Lee, N S, Motte, J, Pinard, J M, Radtke, R A, Ross, M E, Tampieri, D, Walsh, C A, Truwit, C L

“…Malformations of neuronal migration such as lissencephaly (agyria-pachygyria spectrum) are well-known causes of mental retardation and epilepsy that are often…”
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Neurological aspects of Fabry's disease by Clavelou, P, Besson, G, Elziere, C, Ferrier, A, Pinard, J-M, Hermier, M, Artigou, J Y, Germain, D P

“…Fabry disease is a rare X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. Progressive accumulation in lysosomes of…”
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De novo t(X;21)(q28;q11) in a girl with phenotypic features of Williams-Beuren syndrome by Telvi, L, Pinard, J M, Ion, R, Sinet, P M, Nicole, A, Feingold, J, Dulac, O, Pompidou, A, Ponsot, G

“…We describe a female infant with mental retardation and some of the phenotypic features of Williams-Beuren syndrome. Chromosome analysis showed…”
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Phenotype and genotype in 101 males with X-linked creatine transporter deficiency by van de Kamp, J M, Betsalel, O T, Mercimek-Mahmutoglu, S, Abulhoul, L, Grünewald, S, Anselm, I, Azzouz, H, Bratkovic, D, de Brouwer, A, Hamel, B, Kleefstra, T, Yntema, H, Campistol, J, Vilaseca, M A, Cheillan, D, D'Hooghe, M, Diogo, L, Garcia, P, Valongo, C, Fonseca, M, Frints, S, Wilcken, B, von der Haar, S, Meijers-Heijboer, H E, Hofstede, F, Johnson, D, Kant, S G, Lion-Francois, L, Pitelet, G, Longo, N, Maat-Kievit, J A, Monteiro, J P, Munnich, A, Muntau, A C, Nassogne, M C, Osaka, H, Ounap, K, Pinard, J M, Quijano-Roy, S, Poggenburg, I, Poplawski, N, Abdul-Rahman, O, Ribes, A, Arias, A, Yaplito-Lee, J, Schulze, A, Schwartz, C E, Schwenger, S, Soares, G, Sznajer, Y, Valayannopoulos, V, Van Esch, H, Waltz, S, Wamelink, M M C, Pouwels, P J W, Errami, A, van der Knaap, M S, Jakobs, C, Mancini, G M, Salomons, G S

“…Creatine transporter deficiency is a monogenic cause of X-linked intellectual disability. Since its first description in 2001 several case reports have been…”
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Sleep Disorders Caused by Brainstem Tumor: Case Report by Ioos, Christine, Estournet-Mathiaud, Brigitte, Pinard, Jean-Marc, Cheliout-Héraut, Fawzia

“…Few studies concerning sleep disorders in brainstem lesions or tumors have been published. We report the case of a girl who was operated on for a brainstem…”
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Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders by Travaglini, Lorena, Brancati, Francesco, Silhavy, Jennifer, Iannicelli, Miriam, Nickerson, Elizabeth, Elkhartoufi, Nadia, Scott, Eric, Spencer, Emily, Gabriel, Stacey, Thomas, Sophie, Ben-Zeev, Bruria, Bertini, Enrico, Boltshauser, Eugen, Chaouch, Malika, Cilio, Maria Roberta, de Jong, Mirjam M, Kayserili, Hulya, Ogur, Gonul, Poretti, Andrea, Signorini, Sabrina, Uziel, Graziella, Zaki, Maha S, Johnson, Colin, Attié-Bitach, Tania, Gleeson, Joseph G, Valente, Enza Maria

“…Joubert syndrome and related disorders (JSRD) are clinically and genetically heterogeneous ciliopathies sharing a peculiar midbrain-hindbrain malformation…”
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