Works matching IS 22143599 AND DT 2023 AND VI 10 AND IP 5

Results: 19

Erratum to: Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment.
Published in:
2023
By:
- McGrattan, Katlyn E.;
- Shell, Richard D.;
- Hurst-Davis, Rebecca;
- Young, Sally Dunaway;
- O'Brien, Eamonn;
- Lavrov, Arseniy;
- Wallach, Shiri;
- LaMarca, Nicole;
- Reyna, Sandra P.;
- Darras, Basil T.
Publication type:
Correction Notice
Induced Pluripotent Stem Cells for Modeling Physiological and Pathological Striated Muscle Complexity.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 761, doi. 10.3233/JND-230076
By:
- Caron, Leslie;
- Testa, Stefano;
- Magdinier, Frédérique
Publication type:
Article
Determinants and Characterization of Locomotion in Adults with Late-Onset Pompe Disease: New Clinical Biomarkers.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 963, doi. 10.3233/JND-230060
By:
- Maulet, Théo;
- Cattagni, Thomas;
- Dubois, Fabien;
- Roche, Nicolas;
- Laforet, Pascal;
- Bonnyaud, Céline
Publication type:
Article
Age Related Burden of Swallowing in Adult Patients Affected by Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 955, doi. 10.3233/JND-230055
By:
- Crescimanno, Grazia;
- Greco, Francesca;
- Bertini, Manuela;
- Maltese, Giacomo;
- Marrone, Oreste
Publication type:
Article
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 937, doi. 10.3233/JND-230054
By:
- Glascock, Jacqueline;
- Darras, Basil T.;
- Crawford, Thomas O.;
- Sumner, Charlotte J.;
- Kolb, Stephen J.;
- DiDonato, Christine;
- Elsheikh, Bakri;
- Howell, Kelly;
- Farwell, Wildon;
- Valente, Marta;
- Petrillo, Marco;
- Tingey, Jessica;
- Jarecki, Jill
Publication type:
Article
Nerve Conduction Differences in a Large Clinical Population: The Role of Age and Sex.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 925, doi. 10.3233/JND-230052
By:
- Shelly, Shahar;
- Ramon-Gonen, Roni;
- Paul, Pritikanta;
- Klein, Christopher J.;
- Klang, Eyal;
- Rahman, Nisim;
- Nikitin, Vera;
- Ben David, Merav;
- Dori, Amir
Publication type:
Article
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 915, doi. 10.3233/JND-230046
By:
- Öz Tunçer, Gökçen;
- Sanri, Aslıhan;
- Aydin, Seren;
- Hergüner, Özlem M.;
- Özgün, Nezir;
- Kömür, Mustafa;
- İçağasioğlu, Dilara F.;
- Toker, Rabia Tütüncü;
- Yilmaz, Sanem;
- Arslan, Elif Acar;
- Güngör, Mesut;
- Kutluk, Gültekin;
- Erol, İlknur;
- Mert, Gülen Gül;
- Polat, Burçin Gönüllü;
- Aksoy, Ayşe
Publication type:
Article
How is Physical Activity Measured in Spinal Muscular Atrophy and Duchenne Muscular Dystrophy?
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 897, doi. 10.3233/JND-230033
By:
- Uher, David;
- Yoon, Lisa;
- Garber, Carol Ewing;
- Montes, Jacqueline
Publication type:
Article
Novel Compound Heterozygous Splice-Site Variants in TPM3 Revealed by RNA Sequencing in a Patient with an Unusual Form of Nemaline Myopathy: A Case Report.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 977, doi. 10.3233/JND-230026
By:
- Pelin, Katarina;
- Sagath, Lydia;
- Lehtonen, Johanna;
- Kiiski, Kirsi;
- Tynninen, Olli;
- Paetau, Anders;
- Johari, Mridul;
- Savarese, Marco;
- Wallgren-Pettersson, Carina;
- Lehtokari, Vilma-Lotta
Publication type:
Article
Open Bite Malocclusion and Orofacial Dysfunction in Patients with Myotonic Dystrophy Type 1 and Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 885, doi. 10.3233/JND-230025
By:
- Havner, Christina;
- Roussakis, Anna Ödman;
- Sjögreen, Lotta;
- Westerlund, Anna
Publication type:
Article
Eye Muscle MRI in Myasthenia Gravis and Other Neuromuscular Disorders.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 869, doi. 10.3233/JND-230023
By:
- Keene, Kevin R.;
- Notting, Irene C.;
- Verschuuren, Jan J.G.M.;
- Voermans, N.;
- de Keizer, Ronald. O.B.;
- Beenakker, Jan-Willem M.;
- Tannemaat, Martijn R.;
- Kan, Hermien E.
Publication type:
Article
Indications for Tube Feeding in Adults with Muscular Disorders: A Scoping Review.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 777, doi. 10.3233/JND-230014
By:
- Middelink, Marloes;
- Voermans, Nicol C.;
- van Engelen, Baziel G.M.;
- Janssen, Mirian C.H.;
- Groothuis, Jan T.;
- Knuijt, Simone;
- Zweers-van Essen, Heidi
Publication type:
Article
Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 847, doi. 10.3233/JND-230011
By:
- Sun, Jianli;
- Harrington, Melissa A.;
- Porter, Ben
Publication type:
Article
Closing the Gap - Detection of 5q-Spinal Muscular Atrophy by Short-Read Next-Generation Sequencing and Unexpected Results in a Diagnostic Patient Cohort.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 835, doi. 10.3233/JND-221668
By:
- Kleinle, Stephanie;
- Scholz, Veronika;
- Benet-Pagés, Anna;
- Wohlfrom, Tobias;
- Gehling, Stefanie;
- Scharf, Florentine;
- Rost, Simone;
- Prott, Eva-Christina;
- Grinzinger, Susanne;
- Hotter, Anna;
- Haug, Verena;
- Niemeier, Sabine;
- Wiethoff-Ubrig, Lucia;
- Hagenacker, Tim;
- Goldhahn, Klaus;
- von Moers, Arpad;
- Walter, Maggie C.;
- Reilich, Peter;
- Eggermann, Katja;
- Kraft, Florian
Publication type:
Article
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 813, doi. 10.3233/JND-221667
By:
- Finkel, Richard S.;
- Day, John W.;
- Pascual Pascual, Samuel Ignacio;
- Ryan, Monique M.;
- Mercuri, Eugenio;
- De Vivo, Darryl C.;
- Montes, Jacqueline;
- Gurgel-Giannetti, Juliana;
- Monine, Michael;
- Gambino, Giulia;
- Makepeace, Corinne;
- Foster, Richard;
- Berger, Zdenek
Publication type:
Article
Inspiratory Muscle Training in Nemaline Myopathy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 825, doi. 10.3233/JND-221665
By:
- van Kleef, Esmee S.B.;
- Langer, Daniel;
- van Engelen, Baziel G.M.;
- Ottenheijm, Coen A.C.;
- Voermans, Nicol C.;
- Doorduin, Jonne
Publication type:
Article
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 731, doi. 10.3233/JND-221646
By:
- Pugliese, Alessia;
- Holland, Stephen H.;
- Rodolico, Carmelo;
- Lochmüller, Hanns;
- Spendiff, Sally
Publication type:
Article
Standardized Tapering off Subcutaneous Immunoglobulin in Chronic Inflammatory Demyelinating Polyneuropathy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 787, doi. 10.3233/JND-221615
By:
- Markvardsen, Lars K.;
- Sindrup, Søren H.;
- Christiansen, Ingelise;
- Sheikh, Aisha M.;
- Holbech, Jakob V.;
- Andersen, Henning
Publication type:
Article
Development of Assays to Measure GNE Gene Potency and Gene Replacement in Skeletal Muscle.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 5, p. 797, doi. 10.3233/JND-221596
By:
- Zygmunt, Deborah A.;
- Lam, Patricia;
- Ashbrook, Anna;
- Koczwara, Katherine;
- Lek, Angela;
- Lek, Monkol;
- Martin, Paul T.
Publication type:
Article