Works matching IS 22143599 AND DT 2023 AND VI 10 AND IP 4

Results: 21

Muscle Ultrasound Abnormalities in Individuals with RYR1-Related Malignant Hyperthermia Susceptibility.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 541, doi. 10.3233/JND-230018

By:

van den Bersselaar, Luuk R.;
van Alfen, Nens;
Kruijt, Nick;
Kamsteeg, Erik-Jan;
Fernandez-Garcia, Miguel A.;
Treves, Susan;
Riazi, Sheila;
Yang, Chu-Ya;
Malagon, Ignacio;
van Eijk, Lucas T.;
van Engelen, Baziel G.M.;
Scheffer, Gert-Jan;
Jungbluth, Heinz;
Snoeck, Marc M.J.;
Voermans, Nicol C.

Publication type:

Article

Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 701, doi. 10.3233/JND-230036

By:

Joosten, Isis B.T.;
Fuchs, Cas J.;
Beelen, Milou;
Plasqui, Guy;
van Loon, Luc J.C.;
Faber, Catharina G.

Publication type:

Article

Symptomatic intracranial hypertension in an adult patient with spinal muscular atrophy and arachnoid cysts receiving nusinersen.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 719, doi. 10.3233/JND-230032

By:

Machetanz, Gerrit;
Grziwotz, Marc;
Semmler, Luisa;
Maier, Mathias;
Maegerlein, Christian;
Deschauer, Marcus

Publication type:

Article

Phase II/III Study of Aceneuramic Acid Administration for GNE Myopathy in Japan.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 555, doi. 10.3233/JND-230029

By:

Suzuki, Naoki;
Mori-Yoshimura, Madoka;
Katsuno, Masahisa;
Takahashi, Masanori P.;
Yamashita, Satoshi;
Oya, Yasushi;
Hashizume, Atsushi;
Yamada, Shinichiro;
Nakamori, Masayuki;
Izumi, Rumiko;
Kato, Masaaki;
Warita, Hitoshi;
Tateyama, Maki;
Kuroda, Hiroshi;
Asada, Ryuta;
Yamaguchi, Takuhiro;
Nishino, Ichizo;
Aoki, Masashi

Publication type:

Article

Pamrevlumab, a Fully Human Monoclonal Antibody Targeting Connective Tissue Growth Factor, for Non-Ambulatory Patients with Duchenne Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 685, doi. 10.3233/JND-230019

By:

Connolly, Anne M.;
Zaidman, Craig M.;
Brandsema, John F.;
Phan, Han C.;
Tian, Cuixia;
Zhang, Xueping;
Li, Jack;
Eisner, Mark D.;
Carrier, Ewa

Publication type:

Article

Dyslipidemia in Muscular Dystrophy: A Systematic Review and Meta-Analysis.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 505, doi. 10.3233/JND-230064

By:

Sun, Zeren;
Wang, Xindi;
White, Zoe;
Dormuth, Colin;
Morales, Fernando;
Bernatchez, Pascal

Publication type:

Article

MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 727, doi. 10.3233/JND-230017

By:

Baskar, Dipti;
Vengalil, Seena;
Nashi, Saraswati;
Bardhan, Mainak;
Srivastava, Kosha;
Sanka, Sai Bhargava;
Polavarapu, Kiran;
Menon, Deepak;
Preethish-Kumar, Veeramani;
Padmanabha, Hansashree;
Arunachal, Gautham;
Nalini, Atchayaram

Publication type:

Article

Diagnostic Challenges of Neuromuscular Disorders after Whole Exome Sequencing.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 667, doi. 10.3233/JND-230013

By:

Chen, Pin-Shiuan;
Chao, Chi-Chao;
Tsai, Li-Kai;
Huang, Hsin-Yi;
Chien, Yin-Hsiu;
Huang, Pei-Hsin;
Hwu, Wuh-Liang;
Hsieh, Sung-Tsang;
Lee, Ni-Chung;
Hsueh, Hsueh-Wen;
Yang, Chih-Chao

Publication type:

Article

Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 615, doi. 10.3233/JND-221618

By:

Unnikrishnan, Gopikrishnan;
Polavarapu, Kiran;
Bardhan, Mainak;
Nashi, Saraswati;
Vengalil, Seena;
Preethish-Kumar, Veeramani;
Valasani, Ravi Kiran;
Huddar, Akshata;
Nishadham, Vikas;
Nandeesh, Bevinahalli Nanjegowda;
Nalini, Atchayaram

Publication type:

Article

Development of an International SMA Bulbar Assessment for Inter-professional Administration.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 639, doi. 10.3233/JND-221672

By:

Dunaway Young, Sally;
McGrattan, Katlyn;
Johnson, Emily;
van der Heul, Marise;
Duong, Tina;
Bakke, Merete;
Werlauff, Ulla;
Pasternak, Amy;
Cattaneo, Camilla;
Hoffman, Katie;
Fanelli, Lavinia;
Breaks, Anne;
Allison, Kristen;
Baranello, Giovanni;
Finkel, Richard;
Coratti, Giorgia;
Lofra, Robert Muni

Publication type:

Article

Impact of Early Non-Invasive Ventilation in Amyotrophic Lateral Sclerosis: A multicenter Randomized Controlled Trial.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 627, doi. 10.3233/JND-221658

By:

Sarasate, Mikel;
González, Nuria;
Córdoba-Izquierdo, Ana;
Prats, Enric;
Gonzalez-Moro, Jose Miguel Rodriguez;
Martí, Sergi;
Lujan, Manel;
Calle, Myriam;
Antón, Antonio;
Povedano, Mónica;
Farrero, Eva

Publication type:

Article

Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy – a Genotype/Phenotype Correlation.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 483, doi. 10.3233/JND-221638

By:

Camelo, Clara Gontijo;
Artilheiro, Mariana Cunha;
Martins Moreno, Cristiane Araújo;
Ferraciolli, Suely Fazio;
Serafim Silva, André Macedo;
Fernandes, Tatiana Ribeiro;
Lucato, Leandro Tavares;
Rocha, Antônio José;
Reed, Umbertina Conti;
Zanoteli, Edmar

Publication type:

Article

Subjective Sleep Quality as it Relates to Cognitive and Physical Function in Spinal Muscular Atrophy Patients.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 713, doi. 10.3233/JND-221627

By:

Wennberg, Alexandra;
Lenzoni, Sabrina;
Turcano, Pierpaolo;
Casagrande, Elena;
Caumo, Luca;
Sorarú, Gianni;
Pegoraro, Elena;
Semenza, Carlo

Publication type:

Article

Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 653, doi. 10.3233/JND-230012

By:

Trifunov, Selena;
Natera-de Benito, Daniel;
Carrera-García, Laura;
Codina, Anna;
Expósito-Escudero, Jesica;
Ortez, Carlos;
Medina, Julita;
Torres Alcala, Soraya;
Bernal, Sara;
Alias, Laura;
Badosa, Carmen;
Balsells, Sol;
Alcolea, Daniel;
Nascimento, Andres;
Jimenez-Mallebrera, Cecilia

Publication type:

Article

Longitudinal Analysis of PUL 2.0 Domains in Ambulant and Non-Ambulant Duchenne Muscular Dystrophy Patients: How do they Change in Relation to Functional Ability?

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 567, doi. 10.3233/JND-221556

By:

Pane, Marika;
Coratti, Giorgia;
Brogna, Claudia;
Bovis, Francesca;
D'Amico, Adele;
Pegoraro, Elena;
Bello, Luca;
Sansone, Valeria;
Albamonte, Emilio;
Ferraroli, Elisabetta;
Mazzone, Elena Stacy;
Fanelli, Lavinia;
Messina, Sonia;
Catteruccia, Michela;
Cicala, Gianpaolo;
Ricci, Martina;
Frosini, Silvia;
De Luca, Giacomo;
Rolle, Enrica;
De Sanctis, Roberto

Publication type:

Article

RNA Transcript Diversity in Neuromuscular Research.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 473, doi. 10.3233/JND-221601

By:

Lim, Wooi Fang;
Rinaldi, Carlo

Publication type:

Article

Life Experiences in Neuromuscular Tracheotomized Patients in Times of Covid-19.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 517, doi. 10.3233/JND-221597

By:

Volpato, Eleonora;
Pierucci, Paola;
De Candia, Maria Luisa;
Casparrini, Massimo;
Volpi, Valeria;
Pagnini, Francesco;
Carpagnano, Giovanna Elisiana;
Banfi, Paolo

Publication type:

Article

Muscle Specific Promotors for Gene Therapy – A Comparative Study in Proliferating and Differentiated Cells.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 575, doi. 10.3233/JND-221574

By:

Dietz, Julienne;
Jacobsen, Frank;
Zhuge, Heidi;
Daya, Nassam;
Bigot, Anne;
Zhang, Wenli;
Ehrhardt, Anja;
Vorgerd, Matthias;
Ehrke-Schulz, Eric

Publication type:

Article

Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 493, doi. 10.3233/JND-221567

By:

Mugisha, Nancy;
Oliveira-Carneiro, Andrea;
Behlim, Tarannum;
Oskoui, Maryam

Publication type:

Article

A Mixed-Method Study Exploring Patient-Experienced and Caregiver-Reported Benefits and Side Effects of Corticosteroid Use in Duchenne Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 593, doi. 10.3233/JND-221617

By:

Fischer, Ryan;
Porter, Katherine;
Donovan, Joanne M.;
Scavina, Mena T.;
Armstrong, Niki;
Denger, Brian;
Hasham, Shabir;
Peay, Holly

Publication type:

Article

Patients with Spinal Muscular Atrophy Type 1 Achieve and Maintain Bulbar Function Following Onasemnogene Abeparvovec Treatment.

Published in:

Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 531, doi. 10.3233/JND-221531

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:

Article