Works matching IS 22143599 AND DT 2024 AND VI 11 AND IP 5

Results: 20

GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 959, doi. 10.3233/JND-230130
By:
- 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
Publication type:
Article
Phenotype-Genotype Correlation of a Cohort of Patients with Congenital Myopathy: A Single Centre Experience from India.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 935, doi. 10.3233/JND-230021
By:
- 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
Publication type:
Article
Erratum to: Sex Difference in Spinal Muscular Atrophy Patients – are Males More Vulnerable?
Published in:
2024
Publication type:
Correction Notice
The Role of Cognition, Affective Symptoms, and Apathy in Treatment Adherence with Noninvasive Home Mechanical Ventilation in Myotonic Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1123, doi. 10.3233/JND-240081
By:
- 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.
Publication type:
Article
Nociceptive Pain in Patients with Neuromuscular Disorders: A Cross-Sectional Clinical Study.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1111, doi. 10.3233/JND-240068
By:
- Sagerer, Elena;
- Wirner-Piotrowski, Corinna;
- Mijic, Marko;
- Arndt, Marcela;
- Garcia-Angarita, Natalia;
- Schoser, Benedikt;
- Wenninger, Stephan
Publication type:
Article
The Dutch Dystrophinopathy Database: A National Registry with Standardized Patient and Clinician Reported Real-World Data.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1095, doi. 10.3233/JND-240061
By:
- 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.
Publication type:
Article
Induced Muscle and Liver Absence of Gne in Postnatal Mice Does Not Result in Structural or Functional Muscle Impairment.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 905, doi. 10.3233/JND-240056
By:
- 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
Publication type:
Article
Quantitative muscle MRI in sporadic inclusion body myositis (sIBM): A prospective cohort study.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 997, doi. 10.3233/JND-240053
By:
- Schlaffke, Lara;
- Rehmann, Robert;
- Froeling, Martijn;
- Güttsches, Anne-Katrin;
- Vorgerd, Matthias;
- Enax-Krumova, Elena;
- Forsting, Johannes
Publication type:
Article
HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1131, doi. 10.3233/JND-240050
By:
- 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
Publication type:
Article
Clinician Perspectives of Gene Therapy as a Treatment Option for Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1085, doi. 10.3233/JND-240033
By:
- 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
Publication type:
Article
Individuals and Families Affected by RYR1-Related Diseases: The Patient/Caregiver Perspective.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1067, doi. 10.3233/JND-240029
By:
- 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.
Publication type:
Article
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1021, doi. 10.3233/JND-240023
By:
- 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;
- Jung, Hans H.;
- Kuehni, Claudia E.;
- Mathis, Andrea;
- Scheidegger, Oliver;
- Schreiner, Bettina;
- Schwarz, Esther I.
Publication type:
Article
Smartphone-Based Assessment of Mobility and Manual Dexterity in Adult People with Spinal Muscular Atrophy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1049, doi. 10.3233/JND-240004
By:
- 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
Publication type:
Article
Meeting Report: 2023 Muscular Dystrophy Association Summit on 'Safety and Challenges in Gene Therapy of Neuromuscular Diseases'.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1139, doi. 10.3233/JND-240002
By:
- Lek, Angela;
- Atas, Evrim;
- Lin, Brian;
- Hesterlee, Sharon E.;
- Abbott, Jordan K.;
- Byrne, Barry J.;
- Bönnemann, Carsten G.
Publication type:
Article
A Systematic Literature Review of the Natural History of Respiratory, Swallowing, Feeding, and Speech Functions in Spinal Muscular Atrophy (SMA).
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 889, doi. 10.3233/JND-230248
By:
- 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
Publication type:
Article
Genetic Landscape of Amyotrophic Lateral Sclerosis in Czech Patients.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1035, doi. 10.3233/JND-230236
By:
- Baumgartner, Daniel;
- Mušová, Zuzana;
- Zídková, Jana;
- Hedvičáková, Petra;
- Vlčková, Eva;
- Joppeková, Lubica;
- Kramářová, Tereza;
- Fajkusová, Lenka;
- Stránecký, Viktor;
- Geryk, Jan;
- Votýpka, Pavel;
- Mazanec, Radim
Publication type:
Article
Characterization of Clinical Phenotypes in Congenital Myasthenic Syndrome Associated with the c.1327delG Frameshift Mutation in CHRNE Encoding the Acetylcholine Receptor Epsilon Subunit.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 1011, doi. 10.3233/JND-230235
By:
- Kastreva, Kristina;
- Chamova, Teodora;
- Blagoeva, Stanislava;
- Bichev, Stoyan;
- Mihaylova, Violeta;
- Meyer, Stefanie;
- Thompson, Rachel;
- Cherninkova, Sylvia;
- Guergueltcheva, Velina;
- Lochmuller, Hanns;
- Tournev, Ivailo
Publication type:
Article
Cardiac Involvement in LAMA2-Related Muscular Dystrophy and SELENON-Related Congenital Myopathy: A Case Series.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 919, doi. 10.3233/JND-230190
By:
- 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.
Publication type:
Article
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 969, doi. 10.3233/JND-230172
By:
- 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
Publication type:
Article
Changes in Physiopathological Markers in Myotonic Dystrophy Type 1 Skeletal Muscle: A 3-Year Follow-up Study.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 5, p. 981, doi. 10.3233/JND-230139
By:
- Roussel, Marie-Pier;
- Ravel-Chapuis, Aymeric;
- Gobin, Jonathan;
- Jasmin, Bernard J.;
- Leduc-Gaudet, Jean-Philippe;
- Gagnon, Cynthia;
- Duchesne, Elise
Publication type:
Article