Works matching IS 22143599 AND DT 2022 AND VI 9 AND IP 4

Results: 10

GFPT1-Associated Congenital Myasthenic Syndrome Mimicking a Glycogen Storage Disease – Diagnostic Pitfalls in Myopathology Solved by Next-Generation-Sequencing.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 533, doi. 10.3233/JND-220822
By:
- Mensch, Alexander;
- Cordts, Isabell;
- Scholle, Leila;
- Joshi, Pushpa Raj;
- Kleeberg, Kathleen;
- Emmer, Alexander;
- Beck-Woedl, Stefanie;
- Park, Joohyun;
- Haack, Tobias B.;
- Stoltenburg-Didinger, Gisela;
- Zierz, Stephan;
- Deschauer, Marcus
Publication type:
Article
Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 493, doi. 10.3233/JND-220811
By:
- Clemens, Paula R.;
- Rao, Vamshi K.;
- Connolly, Anne M.;
- Harper, Amy D.;
- Mah, Jean K.;
- McDonald, Craig M.;
- Smith, Edward C.;
- Zaidman, Craig M.;
- Nakagawa, Tomoyuki;
- Hoffman, Eric P.
Publication type:
Article
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 571, doi. 10.3233/JND-220801
By:
- Khadilkar, Satish Vasant;
- Halani, Hiral Amrut;
- Dastur, Rashna;
- Gaitonde, Pradnya Satish;
- Oza, Harsh;
- Hegde, Madhuri
Publication type:
Article
Slow Channel Syndrome Revisited: 40 Years Clinical Follow-Up and Genetic Characterization of Two Cases.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 525, doi. 10.3233/JND-220798
By:
- Boon, Helena T.M.;
- Jacobs, Bram;
- Wouter, van Rheenen;
- Kamsteeg, Erik-Jan;
- Kuks, Jan B.M.;
- Vincent, Angela;
- Eymard, Bruno;
- Voermans, Nicol C.
Publication type:
Article
Understanding the Perseverance of the Muscular Dystrophy Community One-Year into the COVID-19 Pandemic.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 517, doi. 10.3233/JND-220794
By:
- Lewis, Leann;
- Eichinger, Katy;
- Dilek, Nuran;
- Higgs, Kiley;
- Walker, Michaela;
- Palmer, David;
- Cooley, John M.;
- Johnson, Nicholas;
- Tawil, Rabi;
- Statland, Jeffrey
Publication type:
Article
INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 503, doi. 10.3233/JND-210781
By:
- Dowling, James J.;
- Müller-Felber, Wolfgang;
- Smith, Barbara K.;
- Bönnemann, Carsten G.;
- Kuntz, Nancy L.;
- Muntoni, Francesco;
- Servais, Laurent;
- Alfano, Lindsay N.;
- Beggs, Alan H.;
- Bilder, Deborah A.;
- Blaschek, Astrid;
- Duong, Tina;
- Graham, Robert J.;
- Jain, Minal;
- Lawlor, Michael W.;
- Lee, Jun;
- Coats, Julie;
- Lilien, Charlotte;
- Lowes, Linda P.;
- MacBean, Victoria
Publication type:
Article
Comparing Deflazacort and Prednisone in Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 463, doi. 10.3233/JND-210776
By:
- Biggar, W. Douglas;
- Skalsky, Andrew;
- McDonald, Craig M.
Publication type:
Article
Progression to Loss of Ambulation Among Patients with Autosomal Recessive Limb-girdle Muscular Dystrophy: A Systematic Review.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 477, doi. 10.3233/JND-210771
By:
- Audhya, Ivana F.;
- Cheung, Antoinette;
- Szabo, Shelagh M.;
- Flint, Emma;
- Weihl, Conrad C.;
- Gooch, Katherine L.
Publication type:
Article
The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 543, doi. 10.3233/JND-210770
By:
- Koeks, Zaıda;
- Hellebrekers, Danique M.J.;
- van de Velde, Nienke M.;
- Alleman, Iris;
- Spitali, Pietro;
- van Duyvenvoorde, Hermine A.;
- Verschuuren, Jan J.G.M.;
- Hendriksen, Jos G.M.;
- Niks, Erik H.
Publication type:
Article
The Black Box of Technological Outcome Measures: An Example in Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2022, v. 9, n. 4, p. 555, doi. 10.3233/JND-210767
By:
- Naarding, Karin J.;
- Janssen, Mariska M.H.P.;
- Boon, Ruben D.;
- Bank, Paulina J.M.;
- Matthew, Robert P.;
- Kurillo, Gregorij;
- Han, Jay J.;
- Verschuuren, Jan J.G.M.;
- de Groot, Imelda J.M.;
- van der Holst, Menno;
- Kan, Hermien E.;
- Niks, Erik H.
Publication type:
Article