Works matching IS 22143599 AND DT 2021 AND VI 8 AND IP 4

Results: 33

Ancestral Origin of the First Indian Families with Myotonic Dystrophy Type 2.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 715, doi. 10.3233/JND-210671
By:
- Damen, Manon;
- Schijvenaars, Mascha;
- Schimmel-Naber, Marlies;
- Groothuismink, Johanne;
- Coenen, Marieke;
- Tieleman, Alide
Publication type:
Article
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 525, doi. 10.3233/JND-210658
By:
- Nagabushana, Divya;
- Polavarapu, Kiran;
- Bardhan, Mainak;
- Arunachal, Gautham;
- Gunasekaran, Swetha;
- Preethish-Kumar, Veeramani;
- Anjanappa, Ram Murthy;
- Thomas, PriyaTreesa;
- Sadasivan, Arun;
- Vengalil, Seena;
- Nashi, Saraswati;
- Chawla, Tanushree;
- Warrier, Manjusha;
- Keerthipriya, Muddasu;
- Raju, Sanita;
- Mohan, Dhaarini;
- Nalini, Atchayaram
Publication type:
Article
Hereditary Transthyretin Amyloidosis-Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 723, doi. 10.3233/JND-210656
By:
- Zhiyong Chen;
- Koh, Jasmine S.;
- Saini, Monica;
- Tay, Karine S. S.;
- Tan, Yi Jayne;
- Chai, Josiah Y. H.;
- Su Rong Fam;
- Juraidah, A. R.;
- Peck Kee Lim;
- Ng, Adeline S. L.;
- Prasad, Kalpana;
- Chai Beng Tan;
- Umapathi, T.;
- Verma, Kamal K.;
- Ming Hui Yong;
- Chen Yu;
- Peng Soon Ng
Publication type:
Article
E-Health & Innovation to Overcome Barriers in Neuromuscular Diseases. Report from the 1st eNMD Congress: Nice, France, March 22-23, 2019.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 743, doi. 10.3233/JND-210655
By:
- Pini, Jonathan;
- Siciliano, Gabriele;
- Lahaut, Pauline;
- Braun, Serge;
- Segovia-Kueny, Sandrine;
- Kole, Anna;
- Hérnando, Ines;
- Selb, Julij;
- Schirinzi, Erika;
- Duong, Tina;
- Hogrel, Jean-Yves;
- Serrano Olmedo, José Javier;
- Vissing, John;
- Servais, Laurent;
- Yincent-Genod, Dominique;
- Vuillerot, Carole;
- Bannwarth, Sylvie;
- Eggenspieler, Damien;
- Vicart, Savine;
- Diaz-Manera, Jordi
Publication type:
Article
Effect of Discontinuation of Nusinersen Treatment in Long-Standing SMA3.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 537, doi. 10.3233/JND-210644
By:
- Hiebeler, Miriam;
- Abichta, Angela;
- Reilich, Peter;
- Walter, Maggie C.
Publication type:
Article
Quantitative Muscle-MRI Correlates with Histopathology in Skeletal Muscle Biopsies.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 669, doi. 10.3233/JND-210641
By:
- Güttsches, Anne-Katrin;
- Rehmann, Robert;
- Schreiner, Anja;
- Rohm, Marlena;
- Forsting, Johannes;
- Froeling, Martijn;
- Tegenthoff, Martin;
- Vorgerd, Matthias;
- Schlaffke, Lara
Publication type:
Article
Early Gross Motor Milestones in Duchenne Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 453, doi. 10.3233/JND-210640
By:
- Norcia, Giulia;
- Lucibello, Simona;
- Coratti, Giorgia;
- Onesimo, Roberta;
- Pede, Elisa;
- Ferrantini, Gloria;
- Brogna, Claudia;
- Cicala, Graziamaria;
- Carnicella, Sara;
- Forcina, Nicola;
- Fanelli, Lavinia;
- Pane, Marika;
- Mercuri, Eugenio
Publication type:
Article
Free-Living Physical Activity and Sedentary Behaviour in Autoimmune Myasthenia Gravis: A Cross-Sectional Study.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 689, doi. 10.3233/JND-210637
By:
- Birnbaum, Simone;
- Bachasson, Damien;
- Sharshar, Tarek;
- Porcher, Raphaël;
- Hogrel, Jean-Yves;
- Portero, Pierre
Publication type:
Article
Non-Motor Symptoms of Amyotrophic Lateral Sclerosis: A Multi-Faceted Disorder.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 699, doi. 10.3233/JND-210632
By:
- Nash, Yuval;
- Sitty, Michal
Publication type:
Article
Oxaliplatin Neuropathy: Predictive Values of Skin Biopsy, QST and Nerve Conduction.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 679, doi. 10.3233/JND-210630
By:
- Krøigård, Thomas;
- Svendsen, Toke K.;
- Wirenfeldt, Martin;
- Schrøder, Henrik D.;
- Qvortrup, Camilla;
- Pfeiffer, Per;
- Gaist, David;
- Sindrup, Søren H.
Publication type:
Article
Thigh and Leg Muscle MRI Findings in GNE Myopathy.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 735, doi. 10.3233/JND-210629
By:
- Fatehi, Farzad;
- Advani, Soroor;
- Okhovat, Ali Asghar;
- Ziaadini, Bentolhoda;
- Shamshiri, Hosein;
- Nafissi, Shahriar
Publication type:
Article
Abstracts from the International Congress on Neuromuscular Diseases, September 11-14, 2020: A Virtual Event.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 755, doi. 10.3233/JND-209002
Publication type:
Article
Vitamin D Level Stability in Dystrophinopathy Patients on Vitamin D Supplementation.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 481, doi. 10.3233/JND-200625
By:
- Vather-Wu, Naomi;
- Krasowski, Matthew D.;
- Mathews, Katherine D.;
- Shibli-Rahhal, Amal
Publication type:
Article
Characterization of Adult Patients With SMA Treated in US Hospital Settings: A Natural History Study in the Premier Healthcare Database.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 569, doi. 10.3233/JND-200624
By:
- Johnson, Nicole B.;
- Proud, Crystal;
- Wassel, Christina L.;
- Dreyfus, Jill;
- Cochrane, Thos;
- Paradis, Angela D.
Publication type:
Article
14-Year Changes in Plasma Neurofilament Levels Among Men: A Pilot Study.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 621, doi. 10.3233/JND-200623
By:
- Rist, Pamela M.;
- Kupelian, Varant;
- Petrillo, Marco;
- Sohn, Jihee;
- Farwell, Wildon;
- Sesso, Howard D.
Publication type:
Article
Evaluation of the Lipid-binding Properties of Recombinant Dystrophin Spectrin-like Repeat Domains R1-3.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 489, doi. 10.3233/JND-200622
By:
- Cooper-Olson, Grace;
- Rodino-Klapac, Louise R.;
- Potter, Rachael A.
Publication type:
Article
Improved Cardiac Outcomes by Early Treatment with Angiotensin-Converting Enzyme Inhibitors in Becker Muscular Dystrophy.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 495, doi. 10.3233/JND-200620
By:
- Stalens, Caroline;
- Motté, Leslie;
- Béhin, Anthony;
- Yaou, Rabah Ben;
- Leturcq, France;
- Bassez, Guillaume;
- Laforêt, Pascal;
- Fontaine, Bertrand;
- Ederhy, Stéphane;
- Masingue, Marion;
- Saadi, Malika;
- Louis, Sarah Leonard;
- Berber, Nawal;
- Stojkovic, Tanya;
- Duboc, Denis;
- Wahbi, Karim
Publication type:
Article
Introduction Survey Letter.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 1
By:
- Slayter, Jeremy
Publication type:
Article
SMA Adult Outcomes Delphi Process Round 2 Report.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 1
Publication type:
Article
SMA Adult Outcomes Delphi Process Round 1 Report.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 1
Publication type:
Article
A Canadian Adult Spinal Muscular Atrophy Outcome Measures Toolkit: Results of a National Consensus using a Modified Delphi Method.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 579, doi. 10.3233/JND-200617
By:
- Slayter, Jeremy;
- Hodgkinson, Victoria;
- Lounsberry, Josh;
- Brais, Bernard;
- Chapman, Kristine;
- Genge, Angela;
- Izenberg, Aaron;
- Johnston, Wendy;
- Lochmüller, Hanns;
- O'Ferrall, Erin;
- Pfeffer, Gerald;
- Plamondon, Stephanie;
- Rodrigue, Xavier;
- Schellenberg, Kerri;
- Shoesmith, Christen;
- Stables, Christine;
- Taillon, Monique;
- Warman-Chardon, Jodi;
- Korngut, Lawrence;
- O'Connell, Colleen
Publication type:
Article
Oral and Swallowing Abilities Tool (OrSAT) for Type 1 SMA Patients: Development of a New Module.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 589, doi. 10.3233/JND-200614
By:
- Berti, Beatrice;
- Fanelli, Lavinia;
- de Sanctis, Roberto;
- Onesimo, Roberta;
- Palermo, Concetta;
- Leone, Daniela;
- Carnicella, Sara;
- Norcia, Giulia;
- Forcina, Nicola;
- Coratti, Giorgia;
- Giorgio, Valentina;
- Cerchiari, Antonella;
- Lucibello, Simona;
- Finkel, Richard;
- Pane, Marika;
- Mercuri, Eugenio
Publication type:
Article
Fracture Risk in Patients with Myasthenia Gravis: A Population-Based Cohort Study.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 625, doi. 10.3233/JND-200612
By:
- Kassardjian, Charles;
- Widdifield, Jessica;
- Paterson, J. Michael;
- Kopp, Alexander;
- Nagamuthu, Chenthila;
- Barnett, Carolina;
- Tu, Karen;
- Breiner, Ari
Publication type:
Article
Improving Care and Empowering Adults Living with SMA: A Call to Action in the New Treatment Era.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 543, doi. 10.3233/JND-200611
By:
- Walter, Maggie C.;
- Chiriboga, Claudia A.;
- Duong, Tina;
- Goemans, Nathalie;
- Mayhew, Anna;
- Ouillade, Laëtitia;
- Oskoui, Maryam;
- Quinlivan, Ros;
- Vázquez-Costa, Juan F.;
- Vissing, John;
- Servais, Laurent
Publication type:
Article
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 553, doi. 10.3233/JND-200610
By:
- McMillan, H. J.;
- Gerber, B.;
- Cowling, T.;
- Khuub, W.;
- Mayer, M.;
- Wu, J. W.;
- Maturi, B.;
- Klein-Panneton, K.;
- Cabalteja, C.;
- Lochmüller, H.
Publication type:
Article
The Role of Nutrition and Physical Activity as Trigger Factors of Paralytic Attacks in Primary Periodic Paralysis.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 457, doi. 10.3233/JND-200604
By:
- Welland, Natasha Lervaag;
- Hæstad, Helge;
- Fossmo, Hanne Ludt;
- Giltvedt, Kaja;
- Ørstavikc, Kristin;
- Nordstrøm, Marianne
Publication type:
Article
Clinical Management of Duchenne Muscular Dystrophy in the Netherlands: Barriers to and Proposals for the Implementation of the International Clinical Practice Guidelines.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 503, doi. 10.3233/JND-200586
By:
- Heutinck, Lotte;
- van Gameren, Maaike;
- Verschuuren, Jan J. G. M.;
- Geurts, Alexander C. H.;
- Jansen, Merel;
- de Groot, Imelda J. M.
Publication type:
Article
Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 633, doi. 10.3233/JND-200577
By:
- Villar-Quiles, Rocío N.;
- Donkervoort, Sandra;
- de Becdelièvre, Alix;
- Gartioux, Corine;
- Jobic, Valérie;
- Foley, A. Reghan;
- McCarty, Riley M.;
- Ying Hu;
- Menassa, Rita;
- Michel, Laurence;
- Gousse, Gaelle;
- Lacour, Arnaud;
- Petiot, Philippe;
- Streichenberger, Nathalie;
- Choumert, Ariane;
- Declerck, Lea;
- Urtizberea, J. A.;
- Sole, Guilhem;
- Furby, Alain;
- Cerino, Matthieu
Publication type:
Article
Progression or Not - A Small Natural History Study of Genetical Confirmed Congenital Myopathies.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 647, doi. 10.3233/JND-200574
By:
- Werlauff, Ulla;
- Hansen, Pernille Diemer;
- Witting, Nanna;
- Vissing, John
Publication type:
Article
Histological Analysis of Tibialis Anterior Muscle of DMD<sup>mdx4Cv</sup> Mice from 1 to 24 Months.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 513, doi. 10.3233/JND-200562
By:
- Larbi, Sabrina Ben;
- Saclier, Marielle;
- Fessard, Aurèlie;
- Juban, Gaëtan;
- Chazaud, Bénédicte
Publication type:
Article
Dysregulation of GSK3β-Target Proteins in Skin Fibroblasts of Myotonic Dystrophy Type 1 (DM1) Patients.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 603, doi. 10.3233/JND-200558
By:
- Grande, Valentina;
- Hathazib, Denisa;
- O'Connor, Emily;
- Marteau, Theo;
- Schara-Schmidt, Ulrike;
- Hentschel, Andreas;
- Gourdon, Genevieve;
- Nikolenko, Nikoletta;
- Lochmüller, Hanns;
- Roos, Andreas
Publication type:
Article
Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 657, doi. 10.3233/JND-200549
By:
- Lawal, Tokunbor A.;
- Patankar, Aneesh;
- Todd, Joshua J.;
- Razaqyar, Muslima S.;
- Chrismer, Irene C.;
- Xuemin Zhang;
- Waite, Melissa R.;
- Jain, Minal S.;
- Emile-Backer, Magalie;
- Witherspoon, Jessica W.;
- Chia-Ying Liu;
- Grunseich, Christopher;
- Meilleur, Katherine G.
Publication type:
Article
Comparison of Long-term Ambulatory Function in Patients with Duchenne Muscular Dystrophy Treated with Eteplirsen and Matched Natural History Controls.
Published in:
Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 469, doi. 10.3233/JND-200548
By:
- Mendell, Jerry R.;
- Khan, Navid;
- Sha, Nanshi;
- Eliopoulos, Helen;
- McDonald, Craig M.;
- Goemans, Nathalie;
- Mercuri, Eugenio;
- Lowes, Linda P.;
- Alfano, Lindsay N.
Publication type:
Article