Search Results - "VANASSE, M"

MYOD1 involvement in myopathy by Lopes, Fátima Daniela Teixeira, Miguet, M., Mucha, B. E., Gauthier, J., Saillour, V., Nguyen, C.-T. É., Vanasse, M., Ellezam, B., Michaud, J. L., Soucy, J.-F., Campeau, P. M.

“…[Excerpt] Introduction Myogenic Differentiation 1 (MYOD1) encodes a transcription factor that plays an important role in myogenic determination into mature…”
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LPIN1 deficiency with severe recurrent rhabdomyolysis and persistent elevation of creatine kinase levels due to chromosome 2 maternal isodisomy by Meijer, I.A., Sasarman, F., Maftei, C., Rossignol, E., Vanasse, M., Major, P., Mitchell, G.A., Brunel-Guitton, C.

“…Fatty acid oxidation disorders and lipin-1 deficiency are the commonest genetic causes of rhabdomyolysis in children. We describe a lipin-1-deficient boy with…”
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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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363 Cardiac effect of high doses idebenone therapy compared to low doses in patients with friedreich ataxia by Sanchez, D. Velasco, Thérien, J, Vanasse, M, Dahdah, N, Fournier, A

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A new autosomal recessive spastic ataxia associated with frequent white matter changes maps to 2q33-34 by THIFLAULT, I, RIOUX, M. F, BOUCHARD, J. P, LESAGE, J, BRAIS, B, TETREAULT, M, JARRY, J, LOISELLE, L, POIRIER, J, GROS-LOUIS, F, MATHIEU, J, VANASSE, M, ROULEAU, G. A

“…Recessive ataxias are a heterogeneous group of diseases. We identified a group of 23 French-Canadian cases belonging to 17 families affected by an autosomal…”
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A new form of congenital muscular dystrophy with joint hyperlaxity maps to 3p23-21 by Tétreault, M., Duquette, A., Thiffault, I., Bherer, C., Jarry, J., Loisel, L., Banwell, B., D'Anjou, G., Mathieu, J., Robitaille, Y., Vanasse, M., Brais, B.

“…Congenital muscular dystrophies (CMDS) are a heterogeneous group of disorders. A growing number of CMDS have been found to be associated with joint…”
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Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians by RODDIER, K, THOMAS, T, VANASSE, M, GAUDET, D, ROULEAU, G. A, BRAIS, B, MARLEAU, G, GAGNON, A. M, DICAIRE, M. J, ST.-DENIS, A, GOSSELIN, I, SARRAZIN, A. M, LARBRISSEAU, A, LAMBERT, M

“…Hereditary sensory and autonomic neuropathy type 2 (HSAN2; MIM 201300) is a rare recessive neuropathy typically diagnosed in the first decade. The 1973 study…”
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Impact of childhood epilepsy on reading and phonological processing abilities by Vanasse, C.M., Béland, R., Carmant, L., Lassonde, M.

“…Although children with epilepsy tend to exhibit more reading difficulties than their classmates, no systematic studies have investigated the relationship…”
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Teaching perspectives on the communication of difficult news of genetic conditions to medical students by Vanasse, Ashley M., Weiler, Tracey, Roth, Elizabeth A., Upadhya, Sharmila, Toriello, Helga V., VanLeuven, Ariel J., Norris, John R., Carey, John C., Sobering, Andrew K.

“…Informing parents that their child has a diagnosis of Down syndrome (DS) is a common example of the delivery of unexpected or difficult news. Expectations and…”
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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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Transcutaneous fiber optic Raman spectroscopy of bone using annular illumination and a circular array of collection fibers by Schulmerich, Matthew V, Dooley, Kathryn A, Morris, Michael D, Vanasse, Thomas M, Goldstein, Steven A

“…Transcutaneous bone Raman spectroscopy with an exciting annulus of 785-nm laser light surrounding the field of view of a circular array of collection fibers is…”
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Subsurface and Transcutaneous Raman Spectroscopy and Mapping Using Concentric Illumination Rings and Collection with a Circular Fiber-Optic Array by Schulmerich, Matthew V., Dooley, Kathryn A., Vanasse, Thomas M., Goldstein, Steven A., Morris, Michael D.

“…Different spatial separations between an illumination ring and a bundle of 50 collection fibers focused to collect light in the center of the ring were used to…”
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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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Effects of hyperbaric oxygen therapy on children with spastic diplegic cerebral palsy: a pilot project by Montgomery, D, Goldberg, J, Amar, M, Lacroix, V, Lecomte, J, Lambert, J, Vanasse, M, Marois, P

“…Hyperbaric oxygen (HBO2) therapy for children with cerebral palsy (CP) is not new. Research documenting the effects in this population has been anecdotal. We…”
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Neurologic Crises in Hereditary Tyrosinemia by Mitchell, Grant, Larochelle, Jean, Lambert, Marie, Michaud, Jean, Grenier, André, Ogier, Hélène, Gauthier, Marie, Lacroix, Jacques, Vanasse, Michel, Larbrisseau, Albert, Paradis, Khazal, Weber, Andrée, Lefevre, Yolande, Melançon, Serge, Dallaire, Louis

“…Hereditary tyrosinemia results from an inborn error in the final step of tyrosine metabolism. The disease is known to cause acute and chronic liver failure,…”
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Impact of Temporal Lobe Epilepsy on Phonological Processing and Reading: A Case Study of Identical Twins by Vanasse, C. M., Béland, R., Jambaqué, I., Lavoie, K., Lassonde, M.

“…In order to evaluate the possible consequences of temporal lobe epilepsy on reading acquisition, we first compared the reading skills and phonological…”
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Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7 by Rochette, C F, Surh, L C, Ray, P N, McAndrew, P E, Prior, T W, Burghes, A H, Vanasse, M, Simard, L R

“…The telomeric survival motor neuron (SMN(T)) gene is a valuable molecular diagnostic tool for childhood-onset spinal muscular atrophy (SMA) as homozygous…”
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Increased levels of plasma malondialdehyde in Friedreich ataxia by EMOND, Monique, LEPAGE, Guy, VANASSE, Michel, PANDOLFO, Massimo

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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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Priorities in adolescent health care: the teenager's viewpoint by Malus, M, LaChance, P A, Lamy, L, Macaulay, A, Vanasse, M

“…The purpose of this study was to determine what issues teenagers want discussed or covered when they visit primary care physicians and to assess to what extent…”
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