Works matching IS 22143599 AND DT 2022 AND VI 9 AND IP 5

Results: 10

Newborn Screening for SMA – Can a Wait-and-See Strategy be Responsibly Justified in Patients With Four SMN2 Copies?

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 597, doi. 10.3233/JND-221510

By:

Blaschek, Astrid;
Kölbel, Heike;
Schwartz, Oliver;
Köhler, Cornelia;
Gläser, Dieter;
Eggermann, Katja;
Hannibal, Iris;
Schara-Schmidt, Ulrike;
Müller-Felber, Wolfgang;
Vill, Katharina

Publication type:

Article

Impact of a 12-week Strength Training Program on Fatigue, Daytime Sleepiness, and Apathy in Men with Myotonic Dystrophy Type 1.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 629, doi. 10.3233/JND-221503

By:

Gallais, Benjamin;
Roussel, Marie-Pier;
Laberge, Luc;
Hébert, Luc J.;
Duchesne, Elise

Publication type:

Article

Muscle MRI as a Diagnostic Challenge in Emery-Dreifuss Muscular Dystrophy.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 649, doi. 10.3233/JND-220823

By:

Pinto, Maria João;
Fromes, Yves;
Ackermann-Bonan, Isabelle;
Leturcq, France;
Verebi, Camille;
Romero, Norma B.;
Stojkovic, Tanya

Publication type:

Article

A Multidisciplinary Perspective Addressing the Diagnostic Challenges of Late-Onset Pompe Disease in the Arabian Peninsula Region Developed From an Expert Group Meeting.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 661, doi. 10.3233/JND-220819

By:

Al Shehri, Ali;
Al-Asmi, Abdullah;
Al Salti, Abdullah Mohammed;
Almadani, Abubaker;
Hassan, Ali;
Bamaga, Ahmed K.;
Cupler, Edward J.;
Al-Hashel, Jasem;
Alabdali, Majed M.;
Alanazy, Mohammed H.;
Noori, Suzan

Publication type:

Article

Slowly Progressive Limb-Girdle Weakness and HyperCKemia – Limb Girdle Muscular Dystrophy or Anti-3-Hydroxy-3-Methylglutaryl-CoA-Reductase-Myopathy?

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 607, doi. 10.3233/JND-220810

By:

Hiebeler, Miriam;
Franke, Raimo;
Ingenerf, Maria;
Krause, Sabine;
Mohassel, Payam;
Pak, Katherine;
Mammen, Andrew;
Schoser, Benedikt;
Bönnemann, Carsten G.;
Walter, Maggie C.

Publication type:

Article

Orthopedic Interventions for Foot Deformities in Non-Ambulant People with Duchenne Muscular Dystrophy: A Retrospective Study on Indications, Post-Operative and Long-Term Outcomes.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 641, doi. 10.3233/JND-220803

By:

Houwen-van Opstal, Saskia L.S.;
Timmer, Amity C.;
Ten Ham, A.M.;
Hosman, Allard J.F.;
Willemsen, Michel A.A.P.;
de Groot, Imelda J.M.

Publication type:

Article

Diagnostic Yield of Chilaiditi's Sign in Advanced-Phase Late-Onset Pompe Disease.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 619, doi. 10.3233/JND-220792

By:

Takahashi, Junichiro;
Mori-Yoshimura, Madoka;
Ariga, Hajime;
Sato, Noriko;
Nishino, Ichizo;
Takahashi, Yuji

Publication type:

Article

Expanding the MYOD1 Phenotype: A Case Report of a Patient Diagnosed Whilst Pregnant.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 615, doi. 10.3233/JND-210782

By:

Ashton, Catherine;
Davis, Mark;
Needham, Merrilee;
Lamont, Phillipa

Publication type:

Article

Congenital or Early Developing Neuromuscular Diseases Affecting Feeding, Swallowing and Speech – A Review of the Literature from January 1998 to August 2021.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 581, doi. 10.3233/JND-210772

By:

Sjögreen, Lotta;
Bengtsson, Lisa

Publication type:

Article

Real-world Adherence to Nusinersen in Adults with Spinal Muscular Atrophy in the US: A Multi-site Chart Review Study.

Published in:

Journal of Neuromuscular Diseases, 2022, v. 9, n. 5, p. 655, doi. 10.3233/JND-210768

By:

Elman, Lauren;
Youn, Bora;
Proud, Crystal M.;
Frey, Margaret R.;
Ajroud-Driss, Senda;
McCormick, M. Eileen;
Michelson, David;
Cartwright, Michael S.;
Heiman-Patterson, Terry;
Choi, Joseph M.;
Chandak, Aastha;
Khachatryan, Artak;
Martinez, Marta;
Paradis, Angela D.

Publication type:

Article