1. A new titinopathy: Childhood-juvenile onset Emery-Dreifuss–like phenotype without cardiomyopathy. (15th December 2015) Authors: De Cid, Rafael; Ben Yaou, Rabah; Roudaut, Carinne; Charton, Karine; Baulande, Sylvain; Leturcq, France; Romero, Norma Beatriz; Malfatti, Edoardo; Beuvin, Maud; Vihola, Anna; Criqui, Audrey; Nelson, Isabelle; Nectoux, Juliette; Ben Aim, Laurène; Caloustian, Christophe; Olaso, Robert; Udd, Bjarne; ... Journal: Neurology Issue: Volume 85:Number 24(2015) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine. (24th July 2018) Authors: Cabrera-Serrano, Macarena; Mavillard, Fabiola; Biancalana, Valerie; Rivas, Eloy; Morar, Bharti; Hernández-Laín, Aurelio; Olive, Montse; Muelas, Nuria; Khan, Eduardo; Carvajal, Alejandra; Quiroga, Pablo; Diaz-Manera, Jordi; Davis, Mark; Ávila, Rainiero; Domínguez, Cristina; Romero, Norma Beatriz; ... Journal: Neurology Issue: Volume 91:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Acute rhabdomyolysis and inflammation. Issue 4 (17th March 2015) Authors: Hamel, Yamina; Mamoune, Asmaa; Mauvais, François‐Xavier; Habarou, Florence; Lallement, Laetitia; Romero, Norma Beatriz; Ottolenghi, Chris; de Lonlay, Pascale Journal: Journal of inherited metabolic disease Issue: Volume 38:Issue 4(2015) Page Start: 621 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy. Issue 9 (29th September 2020) Authors: Géraud, Justine; Dieterich, Klaus; Rendu, John; Uro Coste, Emmanuelle; Dobrzynski, Murielle; Marcorelle, Pascale; Ioos, Christine; Romero, Norma Beatriz; Baudou, Eloise; Brocard, Julie; Coville, Anne-Cécile; Fauré, Julien; Koenig, Michel; Juntas Morales, Raul; Lacène, Emmanuelle; Madelaine, Angél... Journal: Journal of medical genetics Issue: Volume 58:Issue 9(2021) Page Start: 602 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1. Issue 12 (17th October 2014) Authors: Böhm, Johann; Chevessier, Frédéric; Koch, Catherine; Peche, G Arielle; Mora, Marina; Morandi, Lucia; Pasanisi, Barbara; Moroni, Isabella; Tasca, Giorgio; Fattori, Fabiana; Ricci, Enzo; Pénisson-Besnier, Isabelle; Nadaj-Pakleza, Aleksandra; Fardeau, Michel; Joshi, Pushpa Raj; Deschauer, Marcus; Ro... Journal: Journal of medical genetics Issue: Volume 51:Issue 12(2014) Page Start: 824 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Extensive morphological and immunohistochemical characterization in myotubular myopathy. Issue 4 (19th June 2013) Authors: Shichiji, Minobu; Biancalana, Valérie; Fardeau, Michel; Hogrel, Jean‐Yves; Osawa, Makiko; Laporte, Jocelyn; Romero, Norma Beatriz Journal: Brain and behavior Issue: Volume 3:Issue 4(2013:Jul.) Page Start: 476 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Human diaphragm atrophy in amyotrophic lateral sclerosis is not predicted by routine respiratory measures. Issue 2 (14th February 2019) Authors: Guimarães-Costa, Raquel; Similowski, Thomas; Rivals, Isabelle; Morélot-Panzini, Capucine; Nierat, Marie-Cécile; Bui, Mai Thao; Akbar, David; Straus, Christian; Romero, Norma Beatriz; Michel, Patrick Pierre; Menegaux, Fabrice; Salachas, François; Gonzalez-Bermejo, Jésus; Bruneteau, Gaëlle Other Names: author non-byline.; Del Mar Amador Maria author non-byline.; Antoine Jean Christophe author non-byline.; Arne-Bes Marie Christine author non-byline.; Attali Valérie author non-byline.; Beauvais Katell author non-byline.; Brunaud-Danel Veronique author non-byline.; Bruneteau Gaelle author non-byl... Journal: European respiratory journal Issue: Volume 53:Issue 2(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies. Issue 12 (25th October 2018) Authors: Ávila-Polo, Rainiero; Malfatti, Edoardo; Lornage, Xavière; Cheraud, Chrystel; Nelson, Isabelle; Nectoux, Juliette; Böhm, Johann; Schneider, Raphaël; Hedberg-Oldfors, Carola; Eymard, Bruno; Monges, Soledad; Lubieniecki, Fabiana; Brochier, Guy; Thao Bui, Mai; Madelaine, Angeline; Labasse, Clémence;... Journal: Journal of neuropathology and experimental neurology Issue: Volume 77:Issue 12(2018) Page Start: 1101 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures. Issue 9 (16th October 2018) Authors: Böhm, Johann; Malfatti, Edoardo; Oates, Emily; Jones, Kristi; Brochier, Guy; Boland, Anne; Deleuze, Jean-François; Romero, Norma Beatriz; Laporte, Jocelyn Journal: Journal of medical genetics Issue: Volume 56:Issue 9(2019) Page Start: 617 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗