1. A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency. Issue 5 (19th April 2020) Authors: 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 Journal: Annals of clinical and translational neurology Issue: Volume 7:Issue 5(2020) Page Start: 846 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A new muscle glycogen storage disease associated with glycogenin‐1 deficiency. Issue 6 (31st October 2014) Authors: Malfatti, Edoardo; Nilsson, Johanna; Hedberg‐Oldfors, Carola; Hernandez‐Lain, Aurelio; Michel, Fabrice; Dominguez‐Gonzalez, Cristina; Viennet, Gabriel; Akman, H. Orhan; Kornblum, Cornelia; Van den Bergh, Peter; Romero, Norma B.; Engel, Andrew G.; DiMauro, Salvatore; Oldfors, Anders Journal: Annals of neurology Issue: Volume 76:Issue 6(2014:Dec.) Page Start: 891 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. 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) ↗
4. A novel homozygous ALPK3 variant associated with cardiomyopathy and skeletal muscle involvement. Issue 3 (16th December 2021) Authors: Papadopoulos, Constantinos; Kekou, Kiriaki; Anastasakis, Aris; Svingou, Maria; Malfatti, Edoardo; Metay, Corinne; Chrysanthou, Margarita; Paschou, Christina; Miliopoulos, Dimitris; Efthimiadis, Georgios; Adamopoulos, Stamatios; Papadimas, George Journal: Muscle & nerve Issue: Volume 65:Issue 3(2022) Page Start: E7 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. A TOR1AIP1 variant segregating with an early onset limb girdle myasthenia—Support for the role of LAP1 in NMJ function and disease. (13th July 2021) Authors: Malfatti, Edoardo; Catchpool, Tara; Nouioua, Sonia; Sihem, Hellal; Fournier, Emmanuel; Carlier, Robert Y.; Cardone, Nastasia; Davis, Mark R.; Laing, Nigel G.; Sternberg, Damien; Ravenscroft, Gianina Journal: Neuropathology & applied neurobiology Issue: Volume 48:Number 1(2022) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Autosomal dominant eccentric core disease caused by a heterozygous mutation in the MYH7 gene. Issue 10 (14th May 2014) Authors: 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 Journal: Journal of neurology, neurosurgery and psychiatry Issue: Volume 85:Issue 10(2014) Page Start: 1149 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Clinical and imaging hallmarks of the MYH7‐related myopathy with severe axial involvement. Issue 2 (14th May 2018) Authors: Dabaj, Ivana; Carlier, Robert Y; Gómez‐Andrés, David; Neto, Osório Abath; Bertini, Enrico; D'amico, Adele; Fattori, Fabiana; PéRéon, Yann; Castiglioni, Claudia; Rodillo, Eliana; Catteruccia, Michela; Guimarães, júlio Brandão; Oliveira, Acary Souza Bulle; Reed, Umbertina Conti; Mesrob, Lilia; Lech... Journal: Muscle & nerve Issue: Volume 58:Issue 2(2018) Page Start: 224 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency. (December 2017) Authors: Ben Yaou, Rabah; Hubert, Aurélie; Nelson, Isabelle; Dahlqvist, Julia R.; Gaist, David; Streichenberger, Nathalie; Beuvin, Maud; Krahn, Martin; Petiot, Philippe; Parisot, Frédéric; Michel, Fabrice; Malfatti, Edoardo; Romero, Norma; Carlier, Robert Yves; Eymard, Bruno; Labrune, Philippe; Duno, Mort... Journal: Neurology Issue: Volume 3:Number 6(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Congenital Nemaline Myopathy with Dense Protein Masses. Issue 4 (9th February 2022) Authors: Bevilacqua, Jorge A; Malfatti, Edoardo; Labasse, Clémence; Brochier, Guy; Madelaine, Angeline; Lacène, Emmanuelle; Doray, Bérénice; Laforêt, Pascal; Eymard, Bruno; Rendu, John; Romero, Norma B Journal: Journal of neuropathology and experimental neurology Issue: Volume 81:Issue 4(2022) Page Start: 304 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Cylindrical spirals associated with severe congenital muscle weakness and epileptic encephalopathy. Issue 5 (18th June 2015) Authors: Malfatti, Edoardo; Chaves, Marcelo; Bellance, Remi; Viou, Mai Thao; Sarrazin, Elisabeth; Fardeau, Michel; Romero, Norma B. Journal: Muscle & nerve Issue: Volume 52:Issue 5(2015:Nov.) Page Start: 895 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗