Search Results - "Rouleau, G. A"

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis by Kwiatkowski, T.J. Jr, Bosco, D.A, LeClerc, A.L, Tamrazian, E, Vanderburg, C.R, Russ, C, Davis, A, Gilchrist, J, Kasarskis, E.J, Munsat, T, Valdmanis, P, Rouleau, G.A, Hosler, B.A, Cortelli, P, de Jong, P.J, Yoshinaga, Y, Haines, J.L, Pericak-Vance, M.A, Yan, J, Ticozzi, N, Siddique, T, McKenna-Yasek, D, Sapp, P.C, Horvitz, H.R, Landers, J.E, Brown, R.H. Jr

“…Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We…”
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Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis by Daoud, H, Valdmanis, P N, Kabashi, E, Dion, P, Dupré, N, Camu, W, Meininger, V, Rouleau, G A

“…Mutations in the TARDBP gene, which encodes the TAR DNA binding protein (TDP-43), have been described in individuals with familial and sporadic amyotrophic…”
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Neurons derived from patients with bipolar disorder divide into intrinsically different sub-populations of neurons, predicting the patients’ responsiveness to lithium by Stern, S, Santos, R, Marchetto, M C, Mendes, A P D, Rouleau, G A, Biesmans, S, Wang, Q-W, Yao, J, Charnay, P, Bang, A G, Alda, M, Gage, F H

“…Bipolar disorder (BD) is a progressive psychiatric disorder with more than 3% prevalence worldwide. Affected individuals experience recurrent episodes of…”
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Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia by Piton, A, Gauthier, J, Hamdan, F F, Lafrenière, R G, Yang, Y, Henrion, E, Laurent, S, Noreau, A, Thibodeau, P, Karemera, L, Spiegelman, D, Kuku, F, Duguay, J, Destroismaisons, L, Jolivet, P, Côté, M, Lachapelle, K, Diallo, O, Raymond, A, Marineau, C, Champagne, N, Xiong, L, Gaspar, C, Rivière, J-B, Tarabeux, J, Cossette, P, Krebs, M-O, Rapoport, J L, Addington, A, DeLisi, L E, Mottron, L, Joober, R, Fombonne, E, Drapeau, P, Rouleau, G A

“…Autism spectrum disorder (ASD) and schizophrenia (SCZ) are two common neurodevelopmental syndromes that result from the combined effects of environmental and…”
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A novel frameshift mutation in UPF3B identified in brothers affected with childhood onset schizophrenia and autism spectrum disorders by Addington, A M, Gauthier, J, Piton, A, Hamdan, F F, Raymond, A, Gogtay, N, Miller, R, Tossell, J, Bakalar, J, Germain, G, Gochman, P, Long, R, Rapoport, J L, Rouleau, G A

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Patterns of gene expression in the limbic system of suicides with and without major depression by SEQUEIRA, A, KLEMPAN, T, CANETTI, L, FFRENCH-MULLEN, J, BENKELFAT, C, ROULEAU, G. A, TURECKI, G

“…The limbic system has consistently been associated with the control of emotions and with mood disorders. The goal of this study was to identify new molecular…”
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Rare susceptibility variants for bipolar disorder suggest a role for G protein-coupled receptors by Cruceanu, C, Schmouth, J-F, Torres-Platas, S G, Lopez, J P, Ambalavanan, A, Darcq, E, Gross, F, Breton, B, Spiegelman, D, Rochefort, D, Hince, P, Petite, J M, Gauthier, J, Lafrenière, R G, Dion, P A, Greenwood, C M, Kieffer, B L, Alda, M, Turecki, G, Rouleau, G A

“…Bipolar disorder (BD) is a prevalent mood disorder that tends to cluster in families. Despite high heritability estimates, few genetic susceptibility factors…”
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Mutations in FUS cause FALS and SALS in French and French Canadian populations by BELZIL, V. V, VALDMANIS, P. N, LACOMBLEZ, L, SALACHAS, F, PRADAT, P.-F, CAMU, W, MEININGER, V, DUPRE, N, ROULEAU, G. A, DION, P. A, DAOUD, H, KABASHI, E, NOREAU, A, GAUTHIER, J, HINCE, P, DESJARLAIS, A, BOUCHARD, J.-P

“…The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis…”
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Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia by Tarabeux, J, Kebir, O, Gauthier, J, Hamdan, F F, Xiong, L, Piton, A, Spiegelman, D, Henrion, É, Millet, B, Fathalli, F, Joober, R, Rapoport, J L, DeLisi, L E, Fombonne, É, Mottron, L, Forget-Dubois, N, Boivin, M, Michaud, J L, Drapeau, P, Lafrenière, R G, Rouleau, G A, Krebs, M-O

“…Pharmacological, genetic and expression studies implicate N-methyl-D-aspartate (NMDA) receptor hypofunction in schizophrenia (SCZ). Similarly, several lines of…”
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Alpha galactosidase A activity in Parkinson's disease by Alcalay, R.N., Wolf, P., Levy, O.A., Kang, U.J., Waters, C., Fahn, S., Ford, B., Kuo, S.H., Vanegas, N., Shah, H., Liong, C., Narayan, S., Pauciulo, M.W., Nichols, W.C., Gan-Or, Z., Rouleau, G.A., Chung, W.K., Oliva, P., Keutzer, J., Marder, K., Zhang, X.K.

“…Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson's Disease (PD) cases is within healthy…”
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Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations by CORCIA, P, VALDMANIS, P, DANEL-BRUNAUD, V, VANDENBERGHE, N, PRADAT, P. F, COURATIER, P, SALACHAS, F, LUMBROSO, S, ROULEAU, G. A, MEININGER, V, CAMU, W, MILLECAMPS, S, LIONNET, C, BLASCO, H, MOUZAT, K, DAOUD, H, BELZIL, V, MORALES, R, PAGEOT, N

“…To describe the phenotype and phenotype-genotype correlations in patients with amyotrophic lateral sclerosis (ALS) with TARDBP gene mutations. French TARDBP+…”
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Loss of the proprioception and touch sensation channel PIEZO2 in siblings with a progressive form of contractures by Mahmud, A.A., Nahid, N.A., Nassif, C., Sayeed, M.S.B., Ahmed, M.U., Parveen, M., Khalil, M.I., Islam, M.M., Nahar, Z., Rypens, F., Hamdan, F.F., Rouleau, G.A., Hasnat, A., Michaud, J.L.

“…Dominant mutations in PIEZO2, which codes for the principal mechanotransduction channel for proprioception and touch sensation, have been found to cause…”
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Novel integrative genomic tool for interrogating lithium response in bipolar disorder by Hunsberger, J G, Chibane, F L, Elkahloun, A G, Henderson, R, Singh, R, Lawson, J, Cruceanu, C, Nagarajan, V, Turecki, G, Squassina, A, Medeiros, C D, Del Zompo, M, Rouleau, G A, Alda, M, Chuang, D-M

“…We developed a novel integrative genomic tool called GRANITE (Genetic Regulatory Analysis of Networks Investigational Tool Environment) that can effectively…”
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A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly by Srour, M., Hamdan, F. F., Gan-Or, Z., Labuda, D., Nassif, C., Oskoui, M., Gana-Weisz, M., Orr-Urtreger, A., Rouleau, G.A., Michaud, J.L.

“…We performed exome analysis in two affected siblings with severe intellectual disability (ID), microcephaly and spasticity from an Ashkenazi Jewish…”
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A novel autosomal dominant restless legs syndrome locus maps to chromosome 20p13 by LEVCHENKO, A, PROVOST, S, ROULEAU, G. A, MONTPLAISIR, J.-Y, XIONG, L, ST-ONGE, J, THIBODEAU, P, RIVIERE, J.-B, DESAUTELS, A, TURECKI, G, DUBE, M.-P

“…The authors investigated genetic factors contributing to restless legs syndrome (RLS) by performing a 10-cM genome-wide scan in a large French-Canadian…”
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Canadian restless legs syndrome twin study by XIONG, L, JANG, K, MONTPLAISIR, J, LEVCHENKO, A, THIBODEAU, P, GASPAR, C, TURECKI, G, ROULEAU, G. A

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The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2 by Baser, M E, Kuramoto, L, Woods, R, Joe, H, Friedman, J M, Wallace, A J, Ramsden, R T, Olschwang, S, Bijlsma, E, Kalamarides, M, Papi, L, Kato, R, Carroll, J, Lázaro, C, Joncourt, F, Parry, D M, Rouleau, G A, Evans, D G R

“…Neurofibromatosis 2 (NF2) patients with constitutional splice site NF2 mutations have greater variability in disease severity than NF2 patients with other…”
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Evidence for a genetic association between monoamine oxidase A and restless legs syndrome by DESAUTELS, A, TURECKI, G, MONTPLAISIR, J, BRISEBOIS, K, SEQUEIRA, A, ADAM, B, ROULEAU, G. A

“…Impairment in the central dopaminergic system has been consistently suggested as an etiologic factor in restless legs syndrome (RLS). To investigate a possible…”
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Administration of testosterone results in reversible deterioration in Kennedy’s disease by Kinirons, P, Rouleau, G A

“…[...]bulbar function was more mildly affected to begin with, and therefore the bulbar motor neurons may have had a greater "reserve" to deal with the presumed…”
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A large-scale international meta-analysis of paraoxonase gene polymorphisms in sporadic ALS by WILLS, A.-M, CRONIN, S, ROULEAU, G. A, FISHER, E. M. C, SHAW, P. J, MORRISON, K. E, PAMPHLETT, R, VAN DEN BERG, L. H, FIGLEWICZ, D. A, ANDERSEN, P. M, AL-CHALABI, A, HARDIMAN, O, SLOWIK, A, PURCELL, S, LANDERS, J. E, BROWN, Rh, KASPERAVICIUTE, D, VAN ES, M. A, MORAHAN, J. M, VALDMANIS, P. N, MEININGER, V, MELKI, J, SHAW, C. E

“…Six candidate gene studies report a genetic association of DNA variants within the paraoxonase locus with sporadic amyotrophic lateral sclerosis (ALS)…”
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