Search Results - "Vanasse, Michel"

All-Cause Mortality and Cardiovascular Outcomes With Prophylactic Steroid Therapy in Duchenne Muscular Dystrophy by Schram, Gernot, MD, PhD, Fournier, Anne, MD, Leduc, Hugues, MSc, Dahdah, Nagib, MD, Therien, Johanne, RT, Vanasse, Michel, MD, Khairy, Paul, MD, PhD

“…Objectives This study sought to determine the impact of steroid therapy on cardiomyopathy and mortality in patients with Duchenne muscular dystrophy (DMD)…”
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Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy by Griggs, Robert C, Miller, J Phillip, Greenberg, Cheryl R, Fehlings, Darcy L, Pestronk, Alan, Mendell, Jerry R, Moxley, Richard T, King, Wendy, Kissel, John T, Cwik, Valerie, Vanasse, Michel, Florence, Julaine M, Pandya, Shree, Dubow, Jordan S, Meyer, James M

“…OBJECTIVE:To assess safety and efficacy of deflazacort (DFZ) and prednisone (PRED) vs placebo in Duchenne muscular dystrophy (DMD). METHODS:This phase III,…”
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Mutations in the mitochondrial methionyl-tRNA synthetase cause a neurodegenerative phenotype in flies and a recessive ataxia (ARSAL) in humans by Bayat, Vafa, Thiffault, Isabelle, Jaiswal, Manish, Tétreault, Martine, Donti, Taraka, Sasarman, Florin, Bernard, Geneviève, Demers-Lamarche, Julie, Dicaire, Marie-Josée, Mathieu, Jean, Vanasse, Michel, Bouchard, Jean-Pierre, Rioux, Marie-France, Lourenco, Charles M, Li, Zhihong, Haueter, Claire, Shoubridge, Eric A, Graham, Brett H, Brais, Bernard, Bellen, Hugo J

“…An increasing number of genes required for mitochondrial biogenesis, dynamics, or function have been found to be mutated in metabolic disorders and…”
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Gross Motor Function Measure Evolution Ratio: Use as a Control for Natural Progression in Cerebral Palsy by Marois, Pierre, MD, Marois, Mikael, MSc, Pouliot-Laforte, Annie, MSc, Vanasse, Michel, MD, Lambert, Jean, PhD, Ballaz, Laurent, PhD

“…Abstract Objective To develop a new way to interpret Gross Motor Function Measure (GMFM-66) score improvement in studies conducted without control groups in…”
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Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy by Brisebois, Katéri, Lortie, Anne, Vanasse, Michel, Carmant, Lionel, Rouleau, Guy A, Verner, Andrei, Cossette, Patrick, Tian Wang, Yu, Liu, Lidong, Lu, Wei-Yang, Saint-Hilaire, Jean-Marc, Dong, Haiheng

“…Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy…”
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Deflazacort Use in Duchenne Muscular Dystrophy: An 8-Year Follow-Up by Houde, Sylvie, MD, Filiatrault, Michèle, MD, Fournier, Anne, MD, Dubé, Julie, MD, D’Arcy, Sylvie, Pht, Bérubé, Denis, MD, Brousseau, Yves, MD, Lapierre, Guy, MD, Vanasse, Michel, MD

“…Data reported here were collected over an 8-year period for 79 Duchenne muscular dystrophy patients, 37 of whom were treated with deflazacort. Mean length of…”
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Transient Creatine Phosphokinase Elevations in Children: A Single-Center Experience by Perreault, Sebastien, MD, MSc, Birca, Ala, MD, PhD, Piper, Dominique, MD, Nadeau, Amélie, MD, Gauvin, France, MD, MSc, Vanasse, Michel, MD

“…Objectives To determine the etiologies and evolution of rhabdomyolysis in children. Study design We performed a retrospective study of patients with…”
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Evolution and Treatment of Childhood Chronic Inflammatory Polyneuropathy by Rossignol, Elsa, MD, D’Anjou, Guy, MD, Lapointe, Normand, MD, MSC, Haddad, Elie, MD, PhD, Vanasse, Michel, MD

“…Chronic inflammatory demyelinating polyneuropathy is a rare disease in pediatric patients. The disease usually responds well to standard therapies including…”
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Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion by Montermini, L, Richter, A, Morgan, K, Justice, C M, Julien, D, Castellotti, B, Mercier, J, Poirier, J, Capozzoli, F, Bouchard, J P, Lemieux, B, Mathieu, J, Vanasse, M, Seni, M H, Graham, G, Andermann, F, Andermann, E, Melançon, S B, Keats, B J, Di Donato, S, Pandolfo, M

“…We studied genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three groups of patients with atypical…”
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Acute Combined Central and Peripheral Nervous System Demyelination in Children by Adamovic, Tanja, MD, Riou, Émilie M., MD, Bernard, Geneviève, MD, MSc, Vanasse, Michel, MD, Décarie, Jean-Claude, MD, Poulin, Chantal, MD, Gauvin, France, MD, MSc

“…Reports of acute combined central and peripheral nervous system acquired inflammatory demyelination are rare in children. This study aimed to (1) define the…”
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Congenital Axonal Neuropathy and Encephalopathy by Chau, Vann, MD, Clément, Jean-François, MD, Robitaille, Yves, MD, D’Anjou, Guy, MD, Vanasse, Michel, MD

“…Congenital axonal neuropathy associated with encephalopathy appears to be very rare. Only a few cases have been reported in the literature. In the last 25…”
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Myoblast transfer in Duchenne muscular dystrophy by Karpati, G, Ajdukovic, D, Arnold, D, Gledhill, R B, Guttmann, R, Holland, P, Koch, P A, Shoubridge, E, Spence, D, Vanasse, M

“…One biceps muscle of 8 patients with Duchenne muscular dystrophy was injected at 55 sites with a total of 55 million viable, purified, and contamination-free…”
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Pain and the Guillain-Barre ́ syndrome in children under 6 years old by Nguyen, Dang Khoa, Agenarioti-Bélanger, Stacey, Vanasse, Michel

“…During a 15-year period, 29 children, under the age of 6 years, with acute Guillain-Barré syndrome were seen at our institution. A review of their charts…”
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Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene by La Piana, Roberta, Vanasse, Michel, Brais, Bernard, Bernard, Genevieve

“…Allan-Herndon-Dudley syndrome is an X-linked disease caused by mutations in the solute carrier family 16 member 2 (SLC16A2) gene. As SLC16A2 encodes the…”
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Lemierre Syndrome: Two Preschool Children with Cerebral Infarcts by Santschi, Miriam, David, Michèle, Garel, Laurent, Vanasse, Michel, Gauvin, France

“…We report two children who developed hemiparesis secondary to cerebral infarcts complicating Lemierre syndrome. The first case is a one-year-old patient who…”
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Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability by Hamdan, Fadi F., Gauthier, Julie, Araki, Yoichi, Lin, Da-Ting, Yoshizawa, Yuhki, Higashi, Kyohei, Park, A-Reum, Spiegelman, Dan, Dobrzeniecka, Sylvia, Piton, Amélie, Tomitori, Hideyuki, Daoud, Hussein, Massicotte, Christine, Henrion, Edouard, Diallo, Ousmane, Shekarabi, Masoud, Marineau, Claude, Shevell, Michael, Maranda, Bruno, Mitchell, Grant, Nadeau, Amélie, D'Anjou, Guy, Vanasse, Michel, Srour, Myriam, Lafrenière, Ronald G., Drapeau, Pierre, Lacaille, Jean Claude, Kim, Eunjoon, Lee, Jae-Ran, Igarashi, Kazuei, Huganir, Richard L., Rouleau, Guy A., Michaud, Jacques L.

“…Little is known about the genetics of nonsyndromic intellectual disability (NSID). We hypothesized that de novo mutations (DNMs) in synaptic genes explain an…”
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An atypical case of SCN9A mutation presenting with global motor delay and a severe pain disorder by Meijer, Inge Anita, Vanasse, Michel, Nizard, Sonia, Robitaille, Yves, Rossignol, Elsa

“…ABSTRACT Introduction: Erythromelalgia due to heterozygous gain‐of‐function SCN9A mutations usually presents as a pure sensory–autonomic disorder characterized…”
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Intellectual disability without epilepsy associated with STXBP1 disruption by HAMDAN, Fadi F, GAUTHIER, Julie, DOBRZENIECKA, Sylvia, LORTIE, Anne, MOTTRON, Laurent, VANASSE, Michel, D'ANJOU, Guy, CLAUDE LACAFLLE, Jean, ROULEAU, Guy A, MICHAUD, Jacques L

“…STXBP1 (Munc18-1) is a component of the machinery involved in the fusion of secretory vesicles to the presynaptic membrane for the release of…”
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An Atypical Case of an SCN9A Mutation with Global Motor Delay and Erythromelalgia (P03.018) by Meijer, Inge, Vanasse, Michel, Nizard, Sonia, Robitaille, Yves, Rossignol, Elsa

“…Abstract only…”
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An Atypical Case of an SCN9A Mutation with Global Motor Delay and Erythromelalgia (IN1-1.010) by Meijer, Inge, Vanasse, Michel, Nizard, Sonia, Robitaille, Yves, Rossignol, Elsa

“…Abstract only…”
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