Works matching IS 22143599 AND DT 2023 AND VI 10 AND IP 1

Results: 13

RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 135, doi. 10.3233/JND-221609
By:
- O'Connor, Thomas N.;
- van den Bersselaar, Luuk R.;
- Chen, Yu Seby;
- Nicolau, Stefan;
- Simon, Brentney;
- Huseth, Andrew;
- Todd, Joshua J.;
- Van Petegem, Filip;
- Sarkozy, Anna;
- Goldberg, Michael F.;
- Voermans, Nicol C.;
- Dirksen, Robert T.
Publication type:
Article
Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 29, doi. 10.3233/JND-221600
By:
- Pechmann, Astrid;
- Behrens, Max;
- Dörnbrack, Katharina;
- Tassoni, Adrian;
- Wenzel, Franziska;
- Stein, Sabine;
- Vogt, Sibylle;
- Zöller, Daniela;
- Bernert, Günther;
- Hagenacker, Tim;
- Schara-Schmidt, Ulrike;
- Walter, Maggie C.;
- Steinbach, Meike;
- Blaschek, Astrid;
- Baumann, Matthias;
- Baumgartner, Manuela;
- Becker, Benedikt;
- Flotats-Bastardas, Marina;
- Friese, Johannes;
- Günther, Rene
Publication type:
Article
Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 55, doi. 10.3233/JND-221577
By:
- Müller-Felber, Wolfgang;
- Blaschek, Astrid;
- Schwartz, Oliver;
- Gläser, Dieter;
- Nennstiel, Uta;
- Brockow, Inken;
- Wirth, Brunhilde;
- Burggraf, Siegfried;
- Röschinger, Wulf;
- Becker, Marc;
- Durner, Jürgen;
- Eggermann, Katja;
- Kölbel, Heike;
- Müller, Christine;
- Hannibal, Iris;
- Olgemöller, Bernd;
- Schara, Ulrike;
- von Moers, Arpad;
- Trollmann, Regina;
- Johannssen, Jessika
Publication type:
Article
Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy1.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 67, doi. 10.3233/JND-221575
By:
- McDonald, Craig M.;
- Mayer, Oscar H.;
- Hor, Kan N.;
- Miller, Debra;
- Goemans, Nathalie;
- Henricson, Erik K.;
- Marden, Jessica R.;
- Freimark, Jonathan;
- Lane, Henry;
- Zhang, Adina;
- Frean, Molly;
- Trifillis, Panayiota;
- Koladicz, Karyn;
- Signorovitch, James
Publication type:
Article
LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 125, doi. 10.3233/JND-221555
By:
- Stojkovic, Tanya;
- Masingue, Marion;
- Métay, Corinne;
- Romero, Norma B.;
- Eymard, Bruno;
- Ben Yaou, Rabah;
- Rialland, Laetitia;
- Drunat, Séverine;
- Gartioux, Corine;
- Nelson, Isabelle;
- Allamand, Valérie;
- Bonne, Gisèle;
- Villar-Quiles, Rocio Nur
Publication type:
Article
On the use of D2.B10-Dmdmdx/J (D2.mdx) Versus C57BL/10ScSn-Dmdmdx/J (mdx) Mouse Models for Preclinical Studies on Duchenne Muscular Dystrophy: A Cautionary Note from Members of the TREAT-NMD Advisory Committee on Therapeutics.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 155, doi. 10.3233/JND-221547
By:
- Aartsma-Rus, Annemieke;
- van Putten, Maaike;
- Mantuano, Paola;
- De Luca, Annamaria
Publication type:
Article
Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 1, doi. 10.3233/JND-221543
By:
- Bouman, Karlijn;
- Dittrich, Anne T.M.;
- Groothuis, Jan T.;
- van Engelen, Baziel G.M.;
- Janssen, Mirian C.H.;
- Voermans, Nicol C.;
- Draaisma, Jos M.T.;
- Erasmus, Corrie E.
Publication type:
Article
Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 15, doi. 10.3233/JND-221535
By:
- Farrar, Michelle A.;
- Kariyawasam, Didu;
- Grattan, Sarah;
- Bayley, Klair;
- Davis, Mark;
- Holland, Sandra;
- Waddel, Leigh B.;
- Jones, Kristi;
- Lorentzos, Michelle;
- Ravine, Anja;
- Wotton, Tiffany;
- Wiley, Veronica
Publication type:
Article
A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 107, doi. 10.3233/JND-221532
By:
- Murata, Daisuke;
- Grunseich, Christopher;
- Iijima, Miho;
- Chan, David;
- Corse, Andrea;
- Hoke, Ahmet;
- Schindler, Alice;
- Sesaki, Hiromi;
- Roda, Ricardo H.
Publication type:
Article
A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 119, doi. 10.3233/JND-221526
By:
- Giannese, Domenico;
- Montano, Vincenzo;
- Lopriore, Piervito;
- Nesti, Claudia;
- LoGerfo, Annalisa;
- Caligo, Maria Adelaide;
- Dal Canto, Flavio;
- Pasquinelli, Gianandrea;
- Bonadio, Angelo Giovanni;
- Moriconi, Diego;
- Siciliano, Gabriele;
- Mancuso, Michelangelo
Publication type:
Article
Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 81, doi. 10.3233/JND-210787
By:
- Chrzanowski, Stephen M.;
- Nagy, Janice A.;
- Pandeya, Sarbesh;
- Rutkove, Seward B.
Publication type:
Article
Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 41, doi. 10.3233/JND-210764
By:
- Mouchet, Julie;
- Roumpanis, Spyros;
- Gaki, Eleni;
- Lipnick, Scott;
- Oskoui, Maryam;
- Scalco, Renata S.;
- Darras, Basil T.
Publication type:
Article
Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 1, p. 91, doi. 10.3233/JND-221517
By:
- Chen, Zhiyong;
- Saini, Monica;
- Koh, Jasmine S.;
- Prasad, Kalpana;
- Koh, Swee Hoon;
- Tay, Karine S.S.;
- Lee, Ming;
- Tan, Yi Jayne;
- Ng, Adeline S.L.;
- Tay, Stacey Kiat Hong;
- Tan, Kong Bing;
- Tandon, Ankit;
- Tan, Jeane M.M.;
- Chai, Josiah Y.H.
Publication type:
Article

Works matching IS 22143599 AND DT 2023 AND VI 10 AND IP 1

RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022.

Improvements in Walking Distance during Nusinersen Treatment – A Prospective 3-year SMArtCARE Registry Study.

Newbornscreening SMA – From Pilot Project to Nationwide Screening in Germany.

Functional and Clinical Outcomes Associated with Steroid Treatment among Non-ambulatory Patients with Duchenne Muscular Dystrophy<sup>1</sup>.

LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD.

On the use of D2.B10-Dmd<sup>mdx</sup>/J (D2.mdx) Versus C57BL/10ScSn-Dmd<sup>mdx</sup>/J (mdx) Mouse Models for Preclinical Studies on Duchenne Muscular Dystrophy: A Cautionary Note from Members of the TREAT-NMD Advisory Committee on Therapeutics.

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.

Newborn Screening for the Diagnosis and Treatment of Duchenne Muscular Dystrophy.

A Heterozygous Mutation in MFF Associated with a Mild Mitochondrial Phenotype.

A Multisystem Mitochondrial Disease Caused by a Novel MT-TL1 mtDNA Variant: A Case Report.

Electrical Impedance Myography Correlates with Functional Measures of Disease Progression in D2-mdx Mice and Boys with Duchenne Muscular Dystrophy.

Disease Burden of Spinal Muscular Atrophy: A Comparative Cohort Study Using Insurance Claims Data in the USA.

Unique Clinical, Radiological and Histopathological Characteristics of a Southeast Asian Cohort of Patients with Limb-Girdle Muscular Dystrophy 2G/LGMD-R7-Telethonin-Related.