Works matching IS 22143599 AND DT 2024 AND VI 11 AND IP 1

Results: 20

The First Decade of Journal of Neuromuscular Diseases: Supporting and Advancing the Rapidly Evolving Field of Translational Research.
Published in:
2024
By:
- Lochmüller, Hanns;
- Bönnemann, Carsten G.
Publication type:
Editorial
The West of Scotland Cohort of Mitochondrial Individuals with the m.3243A>G Variant: Variations in Phenotypes and Predictors of Disease Severity.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 179, doi. 10.3233/JND-230166
By:
- Saunders, Charlie;
- Longman, Cheryl;
- Gorman, Grainne;
- James, Kelly;
- Oliwa, Agata;
- Petty, Richard;
- Snadden, Lesley;
- Farrugia, Maria Elena
Publication type:
Article
Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 167, doi. 10.3233/JND-230164
By:
- Pfrimmer, Charlotte;
- Smitka, Martin;
- Muschol, Nicole;
- Husain, Ralf A.;
- Huemer, Martina;
- Hennermann, Julia B.;
- Schuler, Rahel;
- Hahn, Andreas
Publication type:
Article
Risdiplam Real World Data – Looking Beyond Motor Neurons and Motor Function Measures.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 75, doi. 10.3233/JND-230197
By:
- Sitas, Barbara;
- Hancevic, Mirea;
- Bilic, Katarina;
- Bilic, Hrvoje;
- Bilic, Ervina
Publication type:
Article
Gene Distribution in Pediatric-Onset Inherited Peripheral Neuropathy: A Single Tertiary Center in Thailand.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 191, doi. 10.3233/JND-230174
By:
- Kulsirichawaroj, Pimchanok;
- Suksangkharn, Yanin;
- Nam, Da Eun;
- Pho-iam, Theeraphong;
- Limwongse, Chanin;
- Chung, Ki Wha;
- Sanmaneechai, Oranee;
- Zuchner, Stephan L.;
- Choi, Byung-Ok
Publication type:
Article
Contribution of Complement, Microangiopathy and Inflammation in Idiopathic Inflammatory Myopathies.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 5, doi. 10.3233/JND-230168
By:
- Honda, Masaya;
- Shimizu, Fumitaka;
- Sato, Ryota;
- Nakamori, Masayuki
Publication type:
Article
Quantifying Variability in Motor Function in Duchenne Muscular Dystrophy: UK Centiles for the NorthStar Ambulatory Assessment, 10 m Walk Run Velocity and Rise from Floor Velocity in GC Treated Boys.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 153, doi. 10.3233/JND-230159
By:
- Stimpson, Georgia;
- Ridout, Deborah;
- Wolfe, Amy;
- Milev, Evelin;
- O'Reilly, Emer;
- Manzur, Adnan;
- Sarkozy, Anna;
- Muntoni, Francesco;
- Cole, Tim J.;
- Baranello, Giovanni
Publication type:
Article
Findings from the Longitudinal CINRG Becker Natural History Study.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 201, doi. 10.3233/JND-230178
By:
- Clemens, Paula R.;
- Gordish-Dressman, Heather;
- Niizawa, Gabriela;
- Gorni, Ksenija;
- Guglieri, Michela;
- Connolly, Anne M.;
- Wicklund, Matthew;
- Bertorini, Tulio;
- Mah, Jean;
- Thangarajh, Mathula;
- Smith, Edward C.;
- Kuntz, Nancy L.;
- McDonald, Craig M.;
- Henricson, Erik;
- Upadhyayula, S;
- Byrne, Barry;
- Manousakis, Georgios;
- Harper, Amy;
- Iannaccone, Susan;
- Dang, Utkarsh J.
Publication type:
Article
Moving Beyond the 2018 Minimum International Care Considerations for Osteoporosis Management in Duchenne Muscular Dystrophy (DMD): Meeting Report from the 3rd International Muscle-Bone Interactions Meeting 7th and 14th November 2022.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 233, doi. 10.3233/JND-230176
By:
- Phung, Kim;
- Crabtree, Nicola;
- Connolly, Anne M.;
- Furlong, Pat;
- Hoffman, Eric P.;
- Jackowski, Stefan A.;
- Jayash, Soher Nagi;
- Johnson, Alex;
- Koujok, Khaldoun;
- Munns, Craig F.;
- Niks, Erik;
- Rauch, Frank;
- Schrader, Rachel;
- Turner, Cathy;
- Vroom, Elizabeth;
- Weber, David R.;
- Wong, Brenda L.;
- Guglieri, Michela;
- Ward, Leanne M.;
- Wong, Sze Choong
Publication type:
Article
Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 143, doi. 10.3233/JND-230136
By:
- Kölbel, Heike;
- Kopka, Marius;
- Modler, Laura;
- Blaschek, Astrid;
- Schara-Schmidt, Ulrike;
- Vill, Katharina;
- Schwartz, Oliver;
- Müller-Felber, Wolfgang
Publication type:
Article
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 213, doi. 10.3233/JND-230110
By:
- Frongia, Ivana;
- Spagnoli, Carlotta;
- Rizzi, Susanna;
- Frattini, Daniele;
- Leon, Alberta;
- Caraffi, Stefano Giuseppe;
- Pollazzon, Marzia;
- Garavelli, Livia;
- Pisani, Francesco;
- Fusco, Carlo
Publication type:
Article
Factors Associated with Respiratory Health and Function in Duchenne Muscular Dystrophy: A Systematic Review and Evidence Grading.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 25, doi. 10.3233/JND-230094
By:
- Landfeldt, E.;
- Aleman, A.;
- Abner, S.;
- Zhang, R.;
- Werner, C.;
- Tomazos, I.;
- Lochmüller, H.;
- Quinlivan, R.M.
Publication type:
Article
Longitudinal Course of Long Finger Flexor Shortening in Males with Duchenne Muscular Dystrophy: A Retrospective Review<sup>1</sup>.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 17, doi. 10.3233/JND-221653
By:
- Houwen-van Opstal, Saskia L.S.;
- van der Holst, Menno;
- Willemsen, Michel A.A.P.;
- Niks, Erik H.;
- De Groot, Imelda. J.M.;
- Cup, Edith H.C.
Publication type:
Article
Self-Reported Health-Related Quality of Life of Children with Spinal Muscular Atrophy: Preliminary Insights from a Nationwide Patient Registry in Germany.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 117, doi. 10.3233/JND-230071
By:
- Landfeldt, Erik;
- Leibrock, Berenike;
- Hussong, Justine;
- Thiele, Simone;
- Abner, Sophia;
- Walter, Maggie C.;
- Moehler, Eva;
- Zemlin, Michael;
- Dillmann, Ulrich;
- Flotats-Bastardas, Marina
Publication type:
Article
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 221, doi. 10.3233/JND-230042
By:
- Nishadham, Vikas;
- Santhoshkumar, Rashmi;
- Nashi, Saraswati;
- Vengalil, Seena;
- Bardhan, Mainak;
- Polavarapu, Kiran;
- Sanka, Sai Bhargava;
- Anjanappa, Ram Murthy;
- Kulanthaivelu, Karthik;
- Saini, Jitender;
- Chickabasaviah, Yasha T.;
- Nalini, Atchayaram
Publication type:
Article
Monitoring Nusinersen Treatment Effects in Children with Spinal Muscular Atrophy with Quantitative Muscle MRI.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 91, doi. 10.3233/JND-221671
By:
- Otto, Louise A.M.;
- Froeling, M.;
- van Eijk, Ruben P.A.;
- Wadman, Renske I.;
- Cuppen, Inge;
- van der Woude, Danny R.;
- Bartels, Bart;
- Asselman, Fay-Lynn;
- Hendrikse, Jeroen;
- van der Pol, W. Ludo
Publication type:
Article
Parental Experiences with Newborn Screening and Gene Replacement Therapy for Spinal Muscular Atrophy.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 129, doi. 10.3233/JND-230082
By:
- Meyer, Alayne P.;
- Connolly, Anne M.;
- Vannatta, Kathryn;
- Hacker, Natasha;
- Hatfield, Andrea;
- Decipeda, Abigail;
- Parker, Patricia;
- Willoughby, Ava;
- Waldrop, Megan A.
Publication type:
Article
Health-Related Quality of Life in FKRP-Related Limb-Girdle Muscular Dystrophy R9.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 59, doi. 10.3233/JND-221629
By:
- Jensen, Synnøve M.;
- Friborg, Oddgeir;
- Mellgren, Svein Ivar;
- Müller, Kai Ivar;
- Bergvik, Svein;
- Arntzen, Kjell Arne
Publication type:
Article
Toward an Understanding of GSD5 (McArdle disease): How Do Individuals Learn to Live with the Metabolic Defect in Daily Life.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 103, doi. 10.3233/JND-230027
By:
- Karazi, Walaa;
- Coppers, Jacqueline;
- Maas, Daphne;
- Cup, Edith;
- Bloemen, Bart;
- Voet, Nicole;
- Groothuis, Jan T.;
- Pinós, Tomàs;
- Marti Seves, Ramon;
- Quinlivan, Ros;
- Løkken, Nicoline;
- Vissing, John;
- Bhai, Salman;
- Wakelin, Andrew;
- Reason, Stacey;
- Voermans, Nicol C.
Publication type:
Article
Can the CHOP-INTEND be used as An Outcome Measure in the First Months of Age? Implications for Clinical Trials and Real World Data.
Published in:
Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 85, doi. 10.3233/JND-221644
By:
- Cutrona, Costanza;
- de Sanctis, Roberto;
- Coratti, Giorgia;
- Capasso, Anna;
- Ricci, Martina;
- Stanca, Giulia;
- Carnicella, Sara;
- Utlulig, Meric;
- Bersani, Giulia;
- lazzareschi, Ilaria;
- Leoni, Chiara;
- Buonsenso, Danilo;
- Luciano, Rita;
- Vento, Giovanni;
- Finkel, Richard S.;
- Pane, Marika;
- Mercuri, Eugenio
Publication type:
Article