Works matching IS 22143599 AND DT 2024 AND VI 11 AND IP 4

Results: 13

Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 883, doi. 10.3233/JND-240022
By:
- Cavusoglu, Dilek;
- Talim, Beril;
- Ekinci, Gazanfer;
- Topaloglu, Haluk
Publication type:
Article
Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties: Insights from Clinical Practice.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 791, doi. 10.3233/JND-230251
By:
- Geuens, Sam;
- Goemans, Nathalie;
- Lemiere, Jurgen;
- Doorenweerd, Nathalie;
- De Waele, Liesbeth
Publication type:
Article
ExoBand, A Passive Wearable Device as a Walking Aid in Neuromuscular Patients: First Quantitative Assessment.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 877, doi. 10.3233/JND-240021
By:
- Semplicini, Claudio;
- Agostini, Michela;
- Andrigo, Cinzia;
- Masiero, Stefano;
- Piccione, Francesco;
- Sorarù, Gianni
Publication type:
Article
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 735, doi. 10.3233/JND-240014
By:
- Mohassel, Payam;
- Abdullah, Meher;
- Eichler, Florian S.;
- Dunn, Teresa M.
Publication type:
Article
Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 777, doi. 10.3233/JND-230182
By:
- Decostre, Valérie;
- De Antonio, Marie;
- Servais, Laurent;
- Hogrel, Jean-Yves
Publication type:
Article
Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 815, doi. 10.3233/JND-240006
By:
- Lencioni, Tiziana;
- Bandini, Virginia;
- Schenone, Cristina;
- Lagostina, Maria;
- Aiello, Alessia;
- Schenone, Angelo;
- Ferrarin, Maurizio;
- Trompetto, Carlo;
- Mori, Laura;
- Germanotta, Marco;
- Pazzaglia, Costanza;
- Massucco, Sara;
- Marinelli, Lucio;
- Grandis, Marina
Publication type:
Article
Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 767, doi. 10.3233/JND-240020
By:
- Olimpio, Catarina;
- Paramonov, Ida;
- Matalonga, Leslie;
- Laurie, Steven;
- Schon, Katherine;
- Polavarapu, Kiran;
- Kirschner, Janbernd;
- Schara-Schmidt, Ulrike;
- Lochmüller, Hanns;
- Chinnery, Patrick F.;
- Horvath, Rita
Publication type:
Article
Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 839, doi. 10.3233/JND-240017
By:
- Colot, Charlotte;
- Benmechri, Sarah;
- Everaert, Elke;
- Muys, Sarah;
- Van Himme, Linde;
- Tahon, Valentine;
- Salmon, Maurine;
- Van Dyck, Dorine;
- De Vos, Elke;
- Deconinck, Nicolas
Publication type:
Article
Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A Systematic Review.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 749, doi. 10.3233/JND-230217
By:
- Pupillo, Elisabetta;
- Al-Chalabi, Ammar;
- Sassi, Serena;
- Arippol, Emilio;
- Tinti, Lorenzo;
- Vitelli, Eugenio;
- Copetti, Massimiliano;
- Leone, Maurizio A.;
- Bianchi, Elisa
Publication type:
Article
Development and Pilot Validation of the DuMAND Checklist to Screen for Duchenne Muscular Dystrophy-Associated Neurobehavioral Difficulties (DuMAND).
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 801, doi. 10.3233/JND-240012
By:
- Geuens, Sam;
- Goemans, Nathalie;
- Lemiere, Jurgen;
- Doorenweerd, Nathalie;
- De Waele, Liesbeth
Publication type:
Article
IMPatienT: An Integrated Web Application to Digitize, Process and Explore Multimodal PATIENt daTa.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 855, doi. 10.3233/JND-230085
By:
- Meyer, Corentin;
- Romero, Norma Beatriz;
- Evangelista, Teresinha;
- Cadot, Brunot;
- Laporte, Jocelyn;
- Jeannin-Girardon, Anne;
- Collet, Pierre;
- Ayadi, Ali;
- Chennen, Kirsley;
- Poch, Olivier
Publication type:
Article
Early-Onset Autosomal Dominant Myopathy with Vacuolated Fibers and Tubular Aggregates but No Periodic Paralysis, in a Patient with the c.1583G>A (p.R528H) mutation in the CACNA1S Gene.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 871, doi. 10.3233/JND-230020
By:
- Bisciglia, Michela;
- Kadhim, Hazim;
- Lecomte, Sophie;
- Vandernoot, Isabelle;
- Desmyter, Laurence;
- Remiche, Gauthier
Publication type:
Article
HAP-PEE: A Danish National Study of Challenges Related to Urinating When Away from Home in Women with Neuromuscular Diseases, Impact on Activity and Participation and Prevalence of Lower Urinary Tract Symptoms.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 4, p. 829, doi. 10.3233/JND-230241
By:
- Werlauff, Ulla;
- Handberg, Charlotte;
- Kristensen, Bente;
- Glerup, Sarah;
- Pharao, Antoniett Vebel;
- Strøm, Jeanette;
- Jensen, Bente Thoft
Publication type:
Article