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

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

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

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

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

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

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

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

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

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

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

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

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

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