Search Results - "Journal of neuromuscular diseases" :: K.UTB vyhledávací portál | TBU Library Retrieval Portal

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry

by Servais, Laurent, Day, John W, De Vivo, Darryl C, Kirschner, Janbernd, Mercuri, Eugenio, Muntoni, Francesco, Proud, Crystal M, Shieh, Perry B, Tizzano, Eduardo F, Quijano-Roy, Susana, Desguerre, Isabelle, Saito, Kayoko, Faulkner, Eric, Benguerba, Kamal M, Raju, Dheeraj, LaMarca, Nicole, Sun, Rui, Anderson, Frederick A, Finkel, Richard S
Published in Journal of neuromuscular diseases (01.01.2024)

Get more information

Journal Article

Macrophages in Skeletal Muscle Dystrophies, An Entangled Partner

Macrophages in Skeletal Muscle Dystrophies, An Entangled Partner

by Theret, Marine, Saclier, Marielle, Messina, Graziella, Rossi, Fabio M V
Published in Journal of neuromuscular diseases (01.01.2022)

Get more information

Journal Article

Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials

Stride Velocity 95th Centile: Insights into Gaining Regulatory Qualification of the First Wearable-Derived Digital Endpoint for use in Duchenne Muscular Dystrophy Trials

by Servais, Laurent, Yen, Karl, Guridi, Maitea, Lukawy, Jacek, Vissière, David, Strijbos, Paul
Published in Journal of neuromuscular diseases (2022)

Get more information

Journal Article

Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience

Real-World Data from Nusinersen Treatment for Patients with Later-Onset Spinal Muscular Atrophy: A Single Center Experience

by Mendonça, Rodrigo H, Polido, Graziela J, Matsui, Ciro, Silva, André M S, Solla, Davi J F, Reed, Umbertina C, Zanoteli, Edmar
Published in Journal of neuromuscular diseases (2021)

Get more information

Journal Article

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology

by Aartsma-Rus, Annemieke, Morgan, Jennifer, Lonkar, Pallavi, Neubert, Hendrik, Owens, Jane, Binks, Michael, Montolio, Marisol, Phadke, Rahul, Datson, Nicole, Van Deutekom, Judith, Morris, Glenn E, Rao, V Ashutosh, Hoffman, Eric P, Muntoni, Francesco, Arechavala-Gomeza, Virginia
Published in Journal of neuromuscular diseases (01.01.2019)

Get more information

Journal Article

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

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

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
Published in Journal of neuromuscular diseases (01.01.2023)

Get more information

Journal Article

Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases

Emerging Oligonucleotide Therapeutics for Rare Neuromuscular Diseases

by Aoki, Yoshitsugu, Wood, Matthew J A
Published in Journal of neuromuscular diseases (01.01.2021)

Get more information

Journal Article

Phase 1 Study of Edasalonexent (CAT-1004), an Oral NF-κB Inhibitor, in Pediatric Patients with Duchenne Muscular Dystrophy

Phase 1 Study of Edasalonexent (CAT-1004), an Oral NF-κB Inhibitor, in Pediatric Patients with Duchenne Muscular Dystrophy

by Finanger, Erika, Vandenborne, Krista, Finkel, Richard S, Lee Sweeney, H, Tennekoon, Gihan, Yum, Sabrina, Mancini, Maria, Bista, Pradeep, Nichols, Andrew, Liu, Hanlan, Fretzen, Angelika, Donovan, Joanne M
Published in Journal of neuromuscular diseases (01.01.2019)

Get more information

Journal Article

Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy

Identification of Serum Interleukin 6 Levels as a Disease Severity Biomarker in Facioscapulohumeral Muscular Dystrophy

by Gros, Marilyn, Nunes, Andreia M, Daoudlarian, Douglas, Pini, Jonathan, Martinuzzi, Emanuela, Barbosa, Susana, Ramirez, Monique, Puma, Angela, Villa, Luisa, Cavalli, Michele, Grecu, Nicolae, Garcia, Jérémy, Siciliano, Gabriele, Solé, Guilhem, Juntas-Morales, Raul, Jones, Peter L, Jones, Takako, Glaichenhaus, Nicolas, Sacconi, Sabrina
Published in Journal of neuromuscular diseases (01.01.2022)

Get more information

Journal Article

Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening

Impaired Neurodevelopment in Children with 5q-SMA - 2 Years After Newborn Screening

by Kölbel, Heike, Kopka, Marius, Modler, Laura, Blaschek, Astrid, Schara-Schmidt, Ulrike, Vill, Katharina, Schwartz, Oliver, Müller-Felber, Wolfgang
Published in Journal of neuromuscular diseases (01.01.2024)

Get more information

Journal Article

Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles

Matrix Metalloproteinases and Tissue Inhibitor of Metalloproteinases in Inflammation and Fibrosis of Skeletal Muscles

by Alameddine, Hala S, Morgan, Jennifer E
Published in Journal of neuromuscular diseases (29.11.2016)

Get more information

Journal Article

Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy

Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy

by Young, Courtney S, Mokhonova, Ekaterina, Quinonez, Marbella, Pyle, April D, Spencer, Melissa J
Published in Journal of neuromuscular diseases (2017)

Get more information

Journal Article

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders

Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders

by Mohassel, Payam, Abdullah, Meher, Eichler, Florian S, Dunn, Teresa M
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal Article

Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials

Relationship Between Hand Strength and Function in Duchenne Muscular Dystrophy and Spinal Muscular Atrophy: Implications for Clinical Trials

by Decostre, Valérie, De Antonio, Marie, Servais, Laurent, Hogrel, Jean-Yves
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal 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

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

by Werlauff, Ulla, Handberg, Charlotte, Kristensen, Bente, Glerup, Sarah, Pharao, Antoniett Vebel, Strøm, Jeanette, Jensen, Bente Thoft
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal Article

Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT

Upper Limbs Muscle Co-Contraction Changes Correlate With The Physical Motor Impairments in CMT

by Lencioni, Tiziana, Bandini, Virginia, Schenone, Cristina, Lagostina, Maria, Aiello, Alessia, Schenone, Angelo, Ferrarin, Maurizio, Trompetto, Carlo, Mori, Laura
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal Article

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach

Assessing the Swallowing Function in Children with Spinal Muscular Atrophy: An Easily Accessible and Objective Multidimensional Approach

by Colot, Charlotte, Benmechri, Sarah, Everaert, Elke, Muys, Sarah, Van Himme, Linde, Tahon, Valentine, Salmon, Maurine, Van Dyck, Dorine, De Vos, Elke, Deconinck, Nicolas
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal Article

Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy

Six Years Follow-Up of an 11-Year-Old Girl with Anti-HMGCR Myopathy

by Cavusoglu, Dilek, Talim, Beril, Ekinci, Gazanfer, Topaloglu, Haluk
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal Article

Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A systematic Review

Methodological Quality of Clinical Trials in Amyotrophic Lateral Sclerosis: A systematic Review

by Pupillo, Elisabetta, Al-Chalabi, Ammar, Sassi, Serena, Arippol, Emilio, Tinti, Lorenzo, Vitelli, Eugenio, Copetti, Massimiliano, Leone, Maurizio A, Bianchi, Elisa
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal 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

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

by Bisciglia, Michela, Kadhim, Hazim, Lecomte, Sophie, Vandernoot, Isabelle, Desmyter, Laurence, Remiche, Gauthier
Published in Journal of neuromuscular diseases (02.07.2024)

Get more information

Journal Article

[1]
Prev
1
2
3
4
5
6
7
8
9
10
11
Next
[20]