Full Text Journal Articles by
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Association of outcomes in acute flaccid myelitis with identification of enterovirus at presentation: a Canadian, nationwide, longitudinal study.

Carmen Yea, Ari Bitnun, Helen M Branson, Beyza Ciftci-Kavaklioglu, Mubeen F Rafay, Olivier Fortin, Paola Moresoli, Guillaume Sébire, Myriam Srour, Hélène Decaluwe, Louis Marois, Félixe Pelletier, Michelle Barton, Maryam Nabavi Nouri, Jason Brophy, Sunita Venkateswaran, Daniela Pohl, Kathryn Selby, Kevin Jones, Joan Robinson, Aleksandra Mineyko, Christoph Licht, Birgit Ertl-Wagner, E Ann Yeh,

BACKGROUND:Acute flaccid myelitis (AFM) is characterised by rapid onset of limb weakness with spinal cord grey-matter abnormalities on MRI scan. We aimed to assess whether detection of enterovirus in respiratory or other specimens can help predict prognosis in children with AFM. METHODS:In this nationwide, longitudinal study, we evaluated the significance ... Read more >>

Lancet Child Adolesc Health (The Lancet. Child & adolescent health)
[2020, 4(11):828-836]

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Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.

Ahmed N Sahly, Eric Krochmalnek, Judith St-Onge, Myriam Srour, Kenneth A Myers,

Hum Genet (Human genetics)
[2020, 139(12):1575-1578]

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Expanding the phenotypic and molecular spectrum of RNA polymerase III-related leukodystrophy.

Stefanie Perrier, Laurence Gauquelin, Catherine Fallet-Bianco, Megan K Dishop, Mackenzie A Michell-Robinson, Luan T Tran, Kether Guerrero, Lama Darbelli, Myriam Srour, Kevin Petrecca, Deborah L Renaud, Michael Saito, Seth Cohen, Steffen Leiz, Bader Alhaddad, Tobias B Haack, Ingrid Tejera-Martin, Fernando I Monton, Norberto Rodriguez-Espinosa, Daniela Pohl, Savithri Nageswaran, Annette Grefe, Emma Glamuzina, Geneviève Bernard,

Objective:To expand the phenotypic spectrum of severity of POLR3-related leukodystrophy and identify genotype-phenotype correlations through study of patients with extremely severe phenotypes. Methods:We performed an international cross-sectional study on patients with genetically proven POLR3-related leukodystrophy and atypical phenotypes to identify 6 children, 3 males and 3 females, with an extremely ... Read more >>

Neurol Genet (Neurology. Genetics)
[2020, 6(3):e425]

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Status Epilepticus Manifested as Continuous Epileptic Spasms.

Jianxiang Liao, Tieshuan Huang, Myriam Srour, Yuhan Xiao, Yan Chen, Sufang Lin, Li Chen, Yan Hu, Lina Men, Jialun Wen, Bing Li, Feiqiu Wen, Lan Xiong,

Objective: The etiology and outcome of status epilepticus with continuous epileptic spasms have not been fully understood; and only rare cases have been reported in the literature. Here, we described 11 children, who manifested continuous epileptic spasms with various etiologies and different outcomes. Methods: This is a case series study ... Read more >>

Front Neurol (Frontiers in neurology)
[2020, 11:65]

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De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype.

Ilana Chilton, Volkan Okur, Giuseppina Vitiello, Angelo Selicorni, Milena Mariani, Alice Goldenberg, Thomas Husson, Dominique Campion, Klaske D Lichtenbelt, Koen van Gassen, Michelle Steinraths, Jennifer Rice, Elizabeth R Roeder, Rebecca O Littlejohn, Myriam Srour, Guillaume Sebire, Andrea Accogli, Delphine Héron, Solveig Heide, Caroline Nava, Christel Depienne, Austin Larson, Dmitriy Niyazov, Meron Azage, George Hoganson, Jennifer Burton, Eric T Rush, Janda L Jenkins, Carol J Saunders, Isabelle Thiffault, Joseph T Alaimo, Julie Fleischer, Daniel Groepper, Karen W Gripp, Wendy K Chung,

CDC42BPB encodes MRCKβ (myotonic dystrophy-related Cdc42-binding kinase beta), a serine/threonine protein kinase, and a downstream effector of CDC42, which has recently been associated with Takenouchi-Kosaki syndrome, an autosomal dominant neurodevelopmental disorder. We identified 12 heterozygous predicted deleterious variants in CDC42BPB (9 missense, 2 frameshift, and 1 nonsense) in 14 unrelated ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2020, 182(5):962-973]

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Developmental trajectory of oligodendrocyte progenitor cells in the human brain revealed by single cell RNA sequencing.

Kelly Perlman, Charles P Couturier, Moein Yaqubi, Arnaud Tanti, Qiao-Ling Cui, Florian Pernin, Jo Anne Stratton, Jiannis Ragoussis, Luke Healy, Kevin Petrecca, Roy Dudley, Myriam Srour, Jeffrey A Hall, Timothy E Kennedy, Naguib Mechawar, Jack P Antel,

Characterizing the developmental trajectory of oligodendrocyte progenitor cells (OPC) is of great interest given the importance of these cells in the remyelination process. However, studies of human OPC development remain limited by the availability of whole cell samples and material that encompasses a wide age range, including time of peak ... Read more >>

Glia (Glia)
[2020, 68(6):1291-1303]

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Neurogenesis, neuronal migration, and axon guidance.

Andrea Accogli, Nassima Addour-Boudrahem, Myriam Srour,

Development of the central nervous system (CNS) is a complex, dynamic process that involves a precisely orchestrated sequence of genetic, environmental, biochemical, and physical factors from early embryonic stages to postnatal life. Duringthe past decade, great strides have been made to unravel mechanisms underlying human CNS development through the employment ... Read more >>

Handb Clin Neurol (Handbook of clinical neurology)
[2020, 173:25-42]

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Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

Andrea Accogli, Judith St-Onge, Nassima Addour-Boudrahem, Joël Lafond-Lapalme, Alexandre Dionne Laporte, Guy A Rouleau, Jean-Baptiste Rivière, Myriam Srour,

The term spinocerebellar ataxia encompasses a heterogeneous group of neurodegenerative disorders due to pathogenic variants in more than 100 genes, underlying 2 major groups of ataxia: autosomal dominant cerebellar ataxias (ADCA, also known as spinocerebellar ataxias [SCAs]) due to heterozygous variants or polyglutamine triplet expansions leading to adult-onset ataxia, and ... Read more >>

J Child Neurol (Journal of child neurology)
[2020, 35(2):106-110]

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De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects.

Andrea Accogli, Sara Calabretta, Judith St-Onge, Nassima Boudrahem-Addour, Alexandre Dionne-Laporte, Pascal Joset, Silvia Azzarello-Burri, Anita Rauch, Joel Krier, Elizabeth Fieg, Juan C Pallais, , Allyn McConkie-Rosell, Marie McDonald, Sharon F Freedman, Jean-Baptiste Rivière, Joël Lafond-Lapalme, Brittany N Simpson, Robert J Hopkin, Aurélien Trimouille, Julien Van-Gils, Amber Begtrup, Kirsty McWalter, Heron Delphine, Boris Keren, David Genevieve, Emanuela Argilli, Elliott H Sherr, Mariasavina Severino, Guy A Rouleau, Patricia T Yam, Frédéric Charron, Myriam Srour,

Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2019, 105(4):854-868]

Cited: 2 times

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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.

Ash Zawerton, Cyril Mignot, Ashley Sigafoos, Patrick R Blackburn, Abdul Haseeb, Kirsty McWalter, Shoji Ichikawa, Caroline Nava, Boris Keren, Perrine Charles, Isabelle Marey, Anne-Claude Tabet, Jonathan Levy, Laurence Perrin, Andreas Hartmann, Gaetan Lesca, Caroline Schluth-Bolard, Pauline Monin, Sophie Dupuis-Girod, Maria J Guillen Sacoto, Rhonda E Schnur, Zehua Zhu, Alice Poisson, Salima El Chehadeh, Yves Alembik, Ange-Line Bruel, Daphné Lehalle, Sophie Nambot, Sébastien Moutton, Sylvie Odent, Sylvie Jaillard, Christèle Dubourg, Yvonne Hilhorst-Hofstee, Tina Barbaro-Dieber, Lucia Ortega, Elizabeth J Bhoj, Diane Masser-Frye, Lynne M Bird, Kristin Lindstrom, Keri M Ramsey, Vinodh Narayanan, Emily Fassi, Marcia Willing, Trevor Cole, Claire G Salter, Rhoda Akilapa, Anthony Vandersteen, Natalie Canham, Patrick Rump, Erica H Gerkes, Jolien S Klein Wassink-Ruiter, Emilia Bijlsma, Mariëtte J V Hoffer, Marcelo Vargas, Antonina Wojcik, Florian Cherik, Christine Francannet, Jill A Rosenfeld, Keren Machol, Daryl A Scott, Carlos A Bacino, Xia Wang, Gary D Clark, Marta Bertoli, Simon Zwolinski, Rhys H Thomas, Ela Akay, Richard C Chang, Rebekah Bressi, Rossana Sanchez Russo, Myriam Srour, Laura Russell, Anne-Marie E Goyette, Lucie Dupuis, Roberto Mendoza-Londono, Catherine Karimov, Maries Joseph, Mathilde Nizon, Benjamin Cogné, Alma Kuechler, Amélie Piton, , Eric W Klee, Véronique Lefebvre, Karl J Clark, Christel Depienne,

PURPOSE:Lamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study ... Read more >>

Genet Med (Genetics in medicine : official journal of the American College of Medical Genetics)
[2020, 22(3):524-537]

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Anne H O'Donnell-Luria, Lynn S Pais, Víctor Faundes, Jordan C Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt Marie Anderlid, Silvia Azzarello-Burri, Alice A Basinger, Claudia Bianchini, Lynne M Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, , Florence Demurger, James J Dowling, Benedicte Duban-Bedu, Christèle Dubourg, Saga Elise Eiset, Luis F Escobar, Alessandra Ferrarini, Tobias B Haack, Mona Hashim, Solveig Heide, Katherine L Helbig, Ingo Helbig, Raul Heredia, Delphine Héron, Bertrand Isidor, Amy R Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Y Kroes, Alinoë Lavillaureix, Xin Lu, Saskia M Maas, Gustavo H B Maegawa, Carlo L M Marcelis, Paul R Mark, Marcelo R Masruha, Heather M McLaughlin, Kirsty McWalter, Esther U Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Ramelli, Luiza L P Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny C Taylor, Aida Telegrafi, Isabelle Thiffault, Doris A Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne G Weber, Ingrid M Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance H Rodan,

We delineate a KMT2E-related neurodevelopmental disorder on the basis of 38 individuals in 36 families. This study includes 31 distinct heterozygous variants in KMT2E (28 ascertained from Matchmaker Exchange and three previously reported), and four individuals with chromosome 7q22.2-22.23 microdeletions encompassing KMT2E (one previously reported). Almost all variants occurred de ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2019, 104(6):1210-1222]

Cited: 3 times

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Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy

Anne O'Donnell-Luria, Lynn Pais, Victor Faundes, Jordan Wood, Abigail Sveden, Victor Luria, Rami Abou Jamra, Andrea Accogli, Kimberly Amburgey, Britt-Marie Anderlid, Silvia Azzarello-Burri, Alice Basinger, Claudia Bianchini, Lynn Bird, Rebecca Buchert, Wilfrid Carre, Sophia Ceulemans, Perrine Charles, Helen Cox, Lisa Culliton, Aurora Currò, Florence Demurger, James Dowling, Benedicte Duban-Bedu, Christele Dubourg, Luis Escobar, Alessandra Ferrarini, Tobias Haack, Mona Hashim, Solveig Heide, Katherine Helbig, Ingo Helbig, Raul Heredia, Delphine Heron, Bertrand Isidor, Amy Jonasson, Pascal Joset, Boris Keren, Fernando Kok, Hester Kroes, Alinoë Lavillaureix, Xin Lu, Saskia Maas, Gustavo HB Maegawa, Carlo LM Marcelis, Saga Elise Eiset, Paul Mark, Mercelo Masruha, Heather McLaughlin, Kirsty McWalter, Esther Melchinger, Saadet Mercimek-Andrews, Caroline Nava, Manuela Pendziwiat, Richard Person, Gian Paolo Paolo Ramelli, Luiza LP Ramos, Anita Rauch, Caitlin Reavey, Alessandra Renieri, Angelika Rieß, Amarilis Sanchez-Valle, Shifteh Sattar, Carol Saunders, Niklas Schwarz, Thomas Smol, Myriam Srour, Katharina Steindl, Steffen Syrbe, Jenny Taylor, Aida Telegrafi, Isabelle Thiffault, Doris Trauner, Helio van der Linden, Silvana van Koningsbruggen, Laurent Villard, Ida Vogel, Julie Vogt, Yvonne Weber, Ingrid Wentzensen, Elysa Widjaja, Jaroslav Zak, Samantha Baxter, Siddharth Banka, Lance Rodan, ,

We delineate a KMT2E gene-related neurodevelopmental disorder based on 38 individuals in 36 families. This includes 31 distinct heterozygous variants in the KMT2E gene (28 ascertained from Matchmaker Exchange and 3 previously reported), and 4 individuals with chromosome 7q22.2-22.23 microdeletions encompassing the KMT2E gene (1 previously reported). Almost all variants ... Read more >>

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Dissecting the neurological phenotype in children with callosal agenesis, interhemispheric cysts and malformations of cortical development.

Sara Uccella, Andrea Accogli, Domenico Tortora, Maria Margherita Mancardi, Lino Nobili, Bianca Berloco, Giovanni Morana, Pasquale Striano, Valeria Capra, Myriam Srour, Christine Saint-Martine, Andrea Rossi, Mariasavina Severino,

OBJECTIVES:To describe the neurological phenotype of children with prenatal diagnosis of agenesis of corpus callosum (ACC) and interhemispheric cysts associated with malformations of cortical development (MCD). METHODS:We reviewed the neuroimaging, neurologic, EEG, and genetic data of 36 patients (21 males, mean age 7 years) with ACC and interhemispheric cysts. Associations were ... Read more >>

J Neurol (Journal of neurology)
[2019, 266(5):1167-1181]

Cited: 2 times

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Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Andrea Accogli, Laura Russell, Guillaume Sébire, Jean-Baptiste Rivière, Judith St-Onge, Nassima Addour-Boudrahem, Alexandre Dionne Laporte, Guy A Rouleau, Christine Saint-Martin, Myriam Srour,

Aminoacyl-tRNA synthetase-interacting multifunctional protein 1 (AIMP1) is a non-catalytic component of the multi-tRNA synthetase complex which catalyzes the ligation of amino acids to the correct tRNAs. Pathogenic variants in several aminoacyl-tRNA synthetases genes have been linked to various neurological disorders, including leukodystrophies and pontocerebellar hypoplasias (PCH). To date, loss-of-function variants ... Read more >>

Neurogenetics (Neurogenetics)
[2019, 20(2):103-108]

Cited: 2 times

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Neural function in DCC mutation carriers with and without mirror movements.

Daniel E Vosberg, Vincent Beaulé, Angélica Torres-Berrío, Danielle Cooke, Amanda Chalupa, Natalia Jaworska, Sylvia M L Cox, Kevin Larcher, Yu Zhang, Dominique Allard, France Durand, Alain Dagher, Chawki Benkelfat, Myriam Srour, Donatella Tampieri, Roberta La Piana, Ridha Joober, Franco Lepore, Guy Rouleau, Alvaro Pascual-Leone, Michael D Fox, Cecilia Flores, Marco Leyton, Hugo Théoret,

OBJECTIVE:Recently identified mutations of the axon guidance molecule receptor gene, DCC, present an opportunity to investigate, in living human brain, mechanisms affecting neural connectivity and the basis of mirror movements, involuntary contralateral responses that mirror voluntary unilateral actions. We hypothesized that haploinsufficient DCC+/- mutation carriers with mirror movements would exhibit ... Read more >>

Ann Neurol (Annals of neurology)
[2019, 85(3):433-442]

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Diagnostic Yield of Intellectual Disability Gene Panels.

Heather Pekeles, Andrea Accogli, Nassima Boudrahem-Addour, Laura Russell, Fabienne Parente, Myriam Srour,

BACKGROUND:Recent technological advances have improved the understanding and identification of the genetic basis of intellectual disability (ID) and global developmental delay (GDD). Next-generation sequencing panels of ID genes are now available for clinical testing; however, their overall yield in clinical practice has not yet been investigated. AIM:We determined the diagnostic ... Read more >>

Pediatr. Neurol. (Pediatric neurology)
[2019, 92:32-36]

Cited: 2 times

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Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency.

Kenneth A Myers, Roy Wr Dudley, Myriam Srour,

Hemiconvulsion-Hemiplegia-Epilepsy initially involves an infantile presentation of febrile focal motor status epilepticus, with subsequent hemiplegia of the initially affected side. Months to years later, affected children go on to develop a chronic epilepsy with recurrent focal seizures which are often refractory to treatment. This uncommon paediatric epilepsy syndrome is poorly ... Read more >>

Epileptic Disord (Epileptic disorders : international epilepsy journal with videotape)
[2018, 20(6):545-550]

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Developmental outcomes in children with congenital cerebellar malformations.

Elana F Pinchefsky, Andrea Accogli, Michael I Shevell, Christine Saint-Martin, Myriam Srour,

AIM:Neurodevelopmental outcomes in children with congenital cerebellar malformations (CCMs) remain poorly defined. We aimed to assess whether specific neuroimaging features in CCM patients correlate with neurodevelopmental outcomes. METHOD:Hospital records and neuroimaging of 67 children with CCMs were systematically reviewed. Logistic regression analyses were used to assess associations between specific imaging ... Read more >>

Dev Med Child Neurol (Developmental medicine and child neurology)
[2019, 61(3):350-358]

Cited: 2 times

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Acute Hemorrhagic Encephalitis Responding to Combined Decompressive Craniectomy, Intravenous Immunoglobulin, and Corticosteroid Therapies: Association with Novel RANBP2 Variant.

Abdulla Alawadhi, Christine Saint-Martin, Farhan Bhanji, Myriam Srour, Jeffrey Atkinson, Guillaume Sébire,

Background:Acute hemorrhagic encephalomyelitis (AHEM) is considered as a rare form of acute disseminated encephalomyelitis characterized by fulminant encephalopathy with hemorrhagic necrosis and most often fatal outcome. Objective:To report the association with Ran Binding Protein (RANBP2) gene variant and the response to decompressive craniectomy and high-dose intravenous methylprednisolone (IVMP) in life-threatening ... Read more >>

Front Neurol (Frontiers in neurology)
[2018, 9:130]

Cited: 0 times

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Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis.

Andrea Accogli, Myriam Srour,

Neurology (Neurology)
[2018, 90(20):e1832-e1833]

Cited: 1 time

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Mesocorticolimbic Connectivity and Volumetric Alterations in DCC Mutation Carriers.

Daniel E Vosberg, Yu Zhang, Aurore Menegaux, Amanda Chalupa, Colleen Manitt, Simone Zehntner, Conrad Eng, Kristina DeDuck, Dominique Allard, France Durand, Alain Dagher, Chawki Benkelfat, Myriam Srour, Ridha Joober, Franco Lepore, Guy Rouleau, Hugo Théoret, Barry J Bedell, Cecilia Flores, Marco Leyton,

The axon guidance cue receptor DCC (deleted in colorectal cancer) plays a critical role in the organization of mesocorticolimbic pathways in rodents. To investigate whether this occurs in humans, we measured (1) anatomical connectivity between the substantia nigra/ventral tegmental area (SN/VTA) and forebrain targets, (2) striatal and cortical volumes, and ... Read more >>

J Neurosci (The Journal of neuroscience : the official journal of the Society for Neuroscience)
[2018, 38(20):4655-4665]

Cited: 4 times

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Health-Related Quality of Life for Patients With Genetically Determined Leukoencephalopathy.

Amytice Mirchi, Félixe Pelletier, Luan T Tran, Stephanie Keller, Nancy Braverman, Davide Tonduti, Adeline Vanderver, Amy Pizzino, Marie-Emmanuelle Dilenge, Chantal Poulin, Michael Shevell, Annette Majnemer, Guillaume Sébire, Myriam Srour, Bradley Osterman, Renée-Myriam Boucher, Michel Vanasse, Elsa Rossignol, John Mitchell, Sunita Venkateswaran, Daniela Pohl, Marcelo Kauffman, Raphael Schiffmann, Cyril Goizet, Sebastien Moutton, Federico Roncarolo, Geneviève Bernard,

BACKGROUND:We attempted to characterize the health-related quality of life in patients with genetically determined leukoencephalopathies as it relates to the severity of clinical features and the presence or absence of a precise molecular diagnosis. METHODS:Health-related quality of life was assessed using the Pediatric Quality of Life Inventory model (Pediatric Quality ... Read more >>

Pediatr Neurol (Pediatric neurology)
[2018, 84:21-26]

Cited: 0 times

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Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Eugenio Mercuri, Basil T Darras, Claudia A Chiriboga, John W Day, Craig Campbell, Anne M Connolly, Susan T Iannaccone, Janbernd Kirschner, Nancy L Kuntz, Kayoko Saito, Perry B Shieh, Már Tulinius, Elena S Mazzone, Jacqueline Montes, Kathie M Bishop, Qingqing Yang, Richard Foster, Sarah Gheuens, C Frank Bennett, Wildon Farwell, Eugene Schneider, Darryl C De Vivo, Richard S Finkel, ,

BACKGROUND:Nusinersen is an antisense oligonucleotide drug that modulates pre-messenger RNA splicing of the survival motor neuron 2 ( SMN2) gene. It has been developed for the treatment of spinal muscular atrophy (SMA). METHODS:We conducted a multicenter, double-blind, sham-controlled, phase 3 trial of nusinersen in 126 children with SMA who had ... Read more >>

N Engl J Med (The New England journal of medicine)
[2018, 378(7):625-635]

Cited: 144 times

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A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Andrea Accogli, Fadi F Hamdan, Chantal Poulin, Christina Nassif, Guy A Rouleau, Jacques L Michaud, Myriam Srour,

Adaptor protein complex-4 (AP-4) is a heterotetrameric protein complex which plays a key role in vesicle trafficking in neurons. Mutations in genes affecting different subunits of AP-4, including AP4B1, AP4E1, AP4S1, and AP4M1, have been recently associated with an autosomal recessive phenotype, consisting of spastic tetraplegia, and intellectual disability (ID). ... Read more >>

Am J Med Genet A (American journal of medical genetics. Part A)
[2018, 176(4):985-991]

Cited: 3 times

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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T Cho, Jill A Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, , David R FitzPatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E Fry, Rhys H Thomas, Joss Shelagh, Jane A Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H Gerkes, Laura Davis-Keppen, Quinn Stein, Wendy K Chung, Sara J Dorison, Paul J Benke, Emily Fassi, Nicole Corsten-Janssen, Erik-Jan Kamsteeg, Frederic T Mau-Them, Ange-Line Bruel, Alain Verloes, Katrin Õunap, Monica H Wojcik, Dara V F Albert, Sunita Venkateswaran, Tyson Ware, Dean Jones, Yu-Chi Liu, Shekeeb S Mohammad, Peyman Bizargity, Carlos A Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J Wierenga, Gabriela Purcarin, James J O'Byrne, Sylvia Stockler, Anna Lehman, Boris Keren, Marie-Christine Nougues, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R Lalani, Richard E Frye, Imad T Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Emilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D'Anjou, Guillaume Bourque, Samuel F Berkovic, Lynette G Sadleir, Philippe M Campeau, Zoha Kibar, Ronald G Lafrenière, Simon L Girard, Saadet Mercimek-Mahmutoglu, Cyrus Boelman, Guy A Rouleau, Ingrid E Scheffer, Heather C Mefford, Danielle M Andrade, Elsa Rossignol, Berge A Minassian, Jacques L Michaud,

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals ... Read more >>

Am J Hum Genet (American journal of human genetics)
[2017, 101(5):664-685]

Cited: 64 times

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