A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA)

Martí, Yasmina | Aponte Ribero, Valerie | Batson, Sarah | Mitchell, Stephen | Gorni, Ksenija | Gusset, Nicole | Oskoui, Maryam | Servais, Laurent | Deconinck, Nicolas | McGrattan, Katlyn Elizabeth | Mercuri, Eugenio | Sutherland, C. Simone

Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment

Harazi, Avi | Yakovlev, Lena | Ilouz, Nili | Selke, Philipp | Horstkorte, Rudiger | Fellig, Yakov | Lahat, Olga | Lifschytz, Tzuri | Abudi, Nathalie | Abramovitch, Rinat | Argov, Zohar | Mitrani-Rosenbaum, Stella

Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series

Bouman, Karlijn | van den Heuvel, Frederik M.A. | Evertz, Reinder | Boesaard, Ewout | Groothuis, Jan T. | van Engelen, Baziel G.M. | Nijveldt, Robin | Erasmus, Corrie E. | Udink ten Cate, Floris E.A. | Voermans, Nicol C.

Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India

Harikrishna, Ganaraja Valakunja | Padmanabha, Hansashree | Polavarapu, Kiran | Anjanappa, Ram Murthy | Preethish-Kumar, Veeramani | Nandeesh, Bevinahalli Nanjegowda | Vengalil, Seena | Nashi, Saraswati | Baskar, Dipti | Thomas, Aneesha | Bardhan, Mainak | Arunachal, Gautham | Menon, Deepak | Sanka, Sai Bhargava | Manjunath, Nisha | Nalini, Atchayaram

GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort

Baskar, Dipti | Reddy, Nishanth | Preethish-Kumar, Veeramani | Polavarapu, Kiran | Nishadham, Vikas | Vengalil, Seena | Nashi, Saraswati | Sanka, Sai Bhargava | Bardhan, Mainak | Huddar, Akshata | Unnikrishnan, Gopikrishnan | Harikrishna, Ganaraja Valakunja | Gunasekaran, Swetha | Thomas, Priya Treesa | Keerthipriya, Muddasu Suhasini | Girija, Manu Santhappan | Arunachal, Gautham | Anjanappa, Ram Murthy | Nishino, Ichizo | Pogoryelova, Oksana | Lochmuller, Hanns | Nalini, Atchayaram

Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort

Baskar, Dipti | Preethish-Kumar, Veeramani | Polavarapu, Kiran | Vengalil, Seena | Nashi, Saraswati | Menon, Deepak | Ganaraja, Valakunja Harikrishna | Girija, Manu Santhappan | Nandeesh, Bevinahalli Nanjegowda | Arunachal, Gautham | Nalini, Atchayaram

Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study

Roussel, Marie-Pier | Ravel-Chapuis, Aymeric | Gobin, Jonathan | Jasmin, Bernard J. | Leduc-Gaudet, Jean-Philippe | Gagnon, Cynthia | Duchesne, Elise

Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study

Schlaffke, Lara | Rehmann, Robert | Froeling, Martijn | Güttsches, Anne-Katrin | Vorgerd, Matthias | Enax-Krumova, Elena | Forsting, Johannes

Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit

Kastreva, Kristina | Chamova, Teodora | Blagoeva, Stanislava | Bichev, Stoyan | Mihaylova, Violeta | Meyer, Stefanie | Thompson, Rachel | Cherninkova, Sylvia | Guergueltcheva, Velina | Lochmuller, Hanns | Tournev, Ivailo

A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy

Enzmann, Cornelia | Steiner, Leonie | Pospieszny, Katarzyna | Zweier, Christiane | Plattner, Kevin | Baumann, Dominique | Henzi, Bettina | Galiart, Elea | Fink, Mirjam | Jacquier, David | Stettner, Georg M. | Ripellino, Paolo | Fluss, Joel | Klein, Andrea | Baumann, Dominique | Enzmann, Cornelia | Jacquier, David | Jung, Hans H. | Klein, Andrea | Kuehni, Claudia E. | Mathis, Andrea | Ripellino, Paolo | Scheidegger, Oliver | Schreiner, Bettina | Schwarz, Esther I. | Stettner, Georg M. | Tscherter, Anne

Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients

Daniel Baumgartner, Zuzana Musová, Jana Zídková, Petra Hedvicáková, Eva Vicková, Lubica Joppeková, Tereza Kramárová, Lenka Fajkusová, Viktor Stránecký, Jan Geryk, Pavel Votýpka, Radim Mazaneca

Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy

Arteaga-Bracho, Eduardo | Cosne, Gautier | Kanzler, Christoph | Karatsidis, Angelos | Mazzà, Claudia | Penalver-Andres, Joaquin | Zhu, Cong | Shen, Changyu | Erb M., Kelley | Freigang, Maren | Lapp, Hanna-Sophie | Thiele, Simone | Wenninger, Stephan | Jung, Erik | Petri, Susanne | Weiler, Markus | Kleinschnitz, Christoph | Walter, Maggie C. | Günther, René | Campbell, Nolan | Belachew, Shibeshih | Hagenacker, Tim

Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective

van de Camp, Sanne A.J.H. | Stinissen, Lizan | Huseth, Andrew | Simon, Brentney | Ryan, Jennifer | Sarkozy, Anna | Van Petegem, Filip | Goldberg, Michael F. | Jungbluth, Heinz | Böhm, Johann | Oortwijn, Wija | Dirksen, Robert T. | Voermans, Nicol C.

Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy

Cope, Heidi | Fischer, Ryan | Heslop, Emma | McNiff, Megan | Johnson, Alexandra | Camino, Eric | Denger, Brian | Armstrong, Niki | Thakrar, Sejal | Bateman-House, Alison | Beaverson, Katherine L. | Woollacott, Ione O.C. | Phillips, Dawn | Fernandez, Vivian | Ganot, Annie | Donisa-Dreghici, Roxana | Mansfield, Carol | Peay, Holly

The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data

Van de Velde, N.M. | Krom, Y.D. | Bongers, J. | Hoek, R.J.A. | Ikelaar, N.A. | van der Holst, M. | Naarding, K.J. | van den Bergen, J.C. | Vroom, E. | Horemans, A. | Hendriksen, J.G.M. | de Groot, I.J.M. | Houwen-van Opstal, S.L.S. | Verschuuren, J.J.G.M. | van Duyvenvoorde, H.A. | Snijder, R.R. | Niks, E.H.

Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study

Sagerer, Elena | Wirner-Piotrowski, Corinna | Mijic, Marko | Arndt, Marcela | Garcia-Angarita, Natalia | Schoser, Benedikt | Wenninger, Stephan

The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy

Vosse, Bettine A.H. | de Jong, Jasmijn | la Fontaine, Leandre A. | Horlings, Corinne G.C. | van Kuijk, Sander M.J. | Cobben, Nicolle A.M. | Domensino, Anne-Fleur | van Heugten, Caroline | Faber, Catharina G.

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy

Roos, Andreas | Häusler, Martin | Kollipara, Laxmikanth | Topf, Ana | Preusse, Corinna | Stucka, Rolf | Nolte, Kay | Strom, Tim | Berutti, Riccardo | Jiang, Xuehui | Koll, Randi | Lochmüller, Hanns | Schacht, Sabine Maria | Zahedi, René P. | Weis, Joachim | Senderek, Jan

Meeting Report: 2023 Muscular Dystrophy Association Summit on ‘Safety and Challenges in Gene Therapy of Neuromuscular Diseases’

Lek, Angela | Atas, Evrim | Lin, Brian | Hesterlee, Sharon E. | Abbott, Jordan K. | Byrne, Barry J. | Bönnemann, Carsten G.