A Premature Stop Codon in MYO18B is Associated with Severe Nemaline Myopathy with Cardiomyopathy

অনুযায়ী Malfatti, Edoardo, Böhm, Johann, Lacène, Emmanuelle, Beuvin, Maud, Guy Brochier, Romero, Norma B., Laporte, Jocelyn
প্রকাশিত J Neuromuscul Dis (2015)

Physiological impact and disease reversion for the severe form of centronuclear myopathy linked to dynamin

অনুযায়ী Muñoz, Xènia Massana, Kretz, Christine, Silva-Rojas, Roberto, Ochala, Julien, Menuet, Alexia, Romero, Norma B., Cowling, Belinda S., Laporte, Jocelyn
প্রকাশিত JCI Insight (2020)

Congenital myopathy-causing tropomyosin mutations induce thin filament dysfunction via distinct physiological mechanisms

অনুযায়ী Ochala, Julien, Gokhin, David S., Pénisson-Besnier, Isabelle, Quijano-Roy, Susana, Monnier, Nicole, Lunardi, Joël, Romero, Norma B., Fowler, Velia M.
প্রকাশিত 2012

Clinical utility gene card for: Centronuclear and myotubular myopathies

অনুযায়ী Biancalana, Valérie, Beggs, Alan H, Das, Soma, Jungbluth, Heinz, Kress, Wolfram, Nishino, Ichizo, North, Kathryn, Romero, Norma B, Laporte, Jocelyn
প্রকাশিত 2012

Reducing dynamin 2 expression rescues X-linked centronuclear myopathy

অনুযায়ী Cowling, Belinda S., Chevremont, Thierry, Prokic, Ivana, Kretz, Christine, Ferry, Arnaud, Coirault, Catherine, Koutsopoulos, Olga, Laugel, Vincent, Romero, Norma B., Laporte, Jocelyn
প্রকাশিত 2014

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

অনুযায়ী Biancalana, Valérie, Romero, Norma B., Thuestad, Inger Johanne, Ignatius, Jaakko, Kataja, Janne, Gardberg, Maria, Héron, Delphine, Malfatti, Edoardo, Oldfors, Anders, Laporte, Jocelyn
প্রকাশিত Acta Neuropathol Commun (2018)

Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1

অনুযায়ী Akman, H. Orhan, Aykit, Yavuz, Amuk, Ozge Ceren, Malfatti, Edoardo, Romero, Norma B., Maioli, Maria Antonietta, Piras, Rachele, DiMauro, Salvatore, Marrosu, Gianni
প্রকাশিত Neuromuscul Disord (2015)

New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisi...

অনুযায়ী Louhichi, Nacim, Triki, Chahnez, Quijano-Roy, Susana, Richard, Pascale, Makri, Samira, Méziou, Mériem, Estournet, Brigitte, Mrad, Slah, Romero, Norma B., Ayadi, Hammadi, Guicheney, Pascale, Fakhfakh, Faiza
প্রকাশিত 2004

Expression of myogenic regulatory factors and myo-endothelial remodeling in sporadic inclusion body myositis

অনুযায়ী Wanschitz, Julia V., Dubourg, Odile, Lacene, Emmanuelle, Fischer, Michael B., Höftberger, Romana, Budka, Herbert, Romero, Norma B., Eymard, Bruno, Herson, Serge, Butler-Browne, Gillian S., Voit, Thomas, Benveniste, Olivier
প্রকাশিত 2013

Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene

অনুযায়ী Romero, Norma B, Xie, Ting, Malfatti, Edoardo, Schaeffer, Ursula, Böhm, Johann, Wu, Bin, Xu, Fengping, Boucebci, Samy, Mathis, Stéphane, Neau, Jean-Philippe, Monnier, Nicole, Fardeau, Michel, Laporte, Jocelyn
প্রকাশিত 2014

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1

অনুযায়ী AME van der Beek, Nadine, Nelson, Isabelle, Froissart, Roseline, Levade, Thierry, Garcia, Virginie, Lacene, Emmanuelle, Boland, Anne, Masson, Cécile, Romero, Norma B., Stojkovic, Tanya, Bonne, Gisèle, Béhin, Anthony
প্রকাশিত Eur J Hum Genet (2018)

Novel Phenotypes and Cardiac Involvement Associated With DNA2 Genetic Variants

অনুযায়ী González-del Angel, Ariadna, Bisciglia, Michela, Vargas-Cañas, Steven, Fernandez-Valverde, Francisca, Kazakova, Ekaterina, Escobar, Rosa Elena, Romero, Norma B., Jardel, Claude, Rucheton, Benoit, Stojkovic, Tanya, Malfatti, Edoardo
প্রকাশিত Front Neurol (2019)

Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases

অনুযায়ী Nelson, Isabelle, Stojkovic, Tanya, Allamand, Valérie, Leturcq, France, Bécane, Henri-Marc, Babuty, Dominique, Toutain, Annick, Béroud, Christophe, Richard, Pascale, Romero, Norma B., Eymard, Bruno, Ben Yaou, Rabah, Bonne, Gisèle
প্রকাশিত J Neuromuscul Dis (2015)

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency

অনুযায়ী Perrin, Aurélien, Metay, Corinne, Villanova, Marcello, Carlier, Robert‐Yves, Pegoraro, Elena, Juntas Morales, Raul, Stojkovic, Tanya, Richard, Isabelle, Richard, Pascale, Romero, Norma B., Granzier, Henk, Koenig, Michel, Malfatti, Edoardo, Cossée, Mireille
প্রকাশিত Ann Clin Transl Neurol (2020)

rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy

অনুযায়ী Ross, Jacob A., Tasfaout, Hichem, Levy, Yotam, Morgan, Jennifer, Cowling, Belinda S., Laporte, Jocelyn, Zanoteli, Edmar, Romero, Norma B., Lowe, Dawn A., Jungbluth, Heinz, Lawlor, Michael W., Mack, David L., Ochala, Julien
প্রকাশিত Acta Neuropathol Commun (2020)

Clinical, histological, and genetic characterization of PYROXD1-related myopathy

অনুযায়ী Lornage, Xavière, Schartner, Vanessa, Balbueno, Inès, Biancalana, Valérie, Willis, Tracey, Echaniz-Laguna, Andoni, Scheidecker, Sophie, Quinlivan, Ros, Fardeau, Michel, Malfatti, Edoardo, Lannes, Béatrice, Sewry, Caroline, Romero, Norma B., Laporte, Jocelyn, Böhm, Johann
প্রকাশিত Acta Neuropathol Commun (2019)

Mutations in the Fukutin-Related Protein Gene (FKRP) Cause a Form of Congenital Muscular Dystrophy with Secondary Laminin α2 Deficiency and Abnormal Glycosylation of α-Dystroglycan...

অনুযায়ী Brockington, Martin, Blake, Derek J., Prandini, Paola, Brown, Susan C., Torelli, Silvia, Benson, Matthew A., Ponting, Chris P., Estournet, Brigitte, Romero, Norma B., Mercuri, Eugenio, Voit, Thomas, Sewry, Caroline A., Guicheney, Pascale, Muntoni, Francesco
প্রকাশিত 2001

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

অনুযায়ী Schiff, Manuel, Veauville-Merllié, Alice, Su, Chen Hsien, Tzagoloff, Alexander, Rak, Malgorzata, de Baulny, Hélène Ogier, Boutron, Audrey, Smedts-Walters, Hélène, Romero, Norma B., Rigal, Odile, Rustin, Pierre, Vianey-Saban, Christine, Acquaviva-Bourdain, Cécile
প্রকাশিত N Engl J Med (2016)

A New Muscle Glycogen Storage Disease Associated with Glycogenin-1 Deficiency

অনুযায়ী Malfatti, Edoardo, Nilsson, Johanna, Hedberg-Oldfors, Carola, Hernandez-Lain, Aurelio, Michel, Fabrice, Dominguez-Gonzalez, Cristina, Viennet, Gabriel, Akman, H. Orhan, Kornblum, Cornelia, den Bergh, Peter Van, Romero, Norma B., Engel, Andrew G., DiMauro, Salvatore, Oldfors, Anders
প্রকাশিত Ann Neurol (2014)

In vivo RyR1 reduction in muscle triggers a core-like myopathy

অনুযায়ী Pelletier, Laurent, Petiot, Anne, Brocard, Julie, Giannesini, Benoit, Giovannini, Diane, Sanchez, Colline, Travard, Lauriane, Chivet, Mathilde, Beaufils, Mathilde, Kutchukian, Candice, Bendahan, David, Metzger, Daniel, Franzini Armstrong, Clara, Romero, Norma B., Rendu, John, Jacquemond, Vincent, Fauré, Julien, Marty, Isabelle
প্রকাশিত Acta Neuropathol Commun (2020)