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

Results: 21

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
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
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
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
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
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
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
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
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
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
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