Review
150. Neuromuscul Disord. 2021 Aug 13;S0960-8966(21)00586-1. Online ahead of print.
Models for IGHMBP2-associated diseases: an overview and a roadmap for the future Weronika Rzepnikowska 1, Andrzej Kochański 2
• 1Neuromuscular Unit, Mossakowski Medical Research Institute Polish Academy of Sciences, Warsaw 02-106, Poland. Electronic address: wrzepnikowska@imdik.pan.pl.
• 2Neuromuscular Unit, Mossakowski Medical Research Institute Polish Academy of Sciences, Warsaw 02-106, Poland.
• PMID: 34785121
• DOI: 10.1016/j.nmd.2021.08.001
Keywords: CMT2S; Disease models; IGHMBP2; SMARD1.
151. PM R. 2021 Nov 13. doi: 10.1002/pmrj.12736. Online ahead of print.
Wheelchair Hockey improves neuromuscular patients' well-being
Elena Carraro 1, Jacopo L Casiraghi 1, Beatrice Bobba 1, Andrea Lizio 1, Carolina Cardella 1 2, Emilio Albamonte 1, Christian Lunetta 1, Susanna Pozzi 1, Valeria A Sansone 1 3
• 1Neuromuscular Omnicenter, NeMO, Fondazione Serena Onlus, Milano, Italy.
• 2Department of Biomedical Sciences for Health, University of Milan, Milan, Italy.
• 3Neurorehabilitation Unit, University of Milan, Milan, Italy.
• PMID: 34773450
• DOI: 10.1002/pmrj.12736
Keywords: Adaptive sports; Duchenne Muscular Dystrophy; Neuromuscular Diseases; Spinal Muscular Atrophy; adaptive athletes; health status; quality of life.
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Review
152. Front Cell Dev Biol. 2021 Oct 27;9:764732. doi: 10.3389/fcell.2021.764732. eCollection 2021.
Neuromuscular Development and Disease: Learning From in vitro and in vivo Models Zachary Fralish 1, Ethan M Lotz 1, Taylor Chavez 1, Alastair Khodabukus 1, Nenad Bursac 1
• 1Department of Biomedical Engineering, Pratt School of Engineering, Duke University, Durham, NC, United States.
• PMID: 34778273
• PMCID: PMC8579029
• DOI: 10.3389/fcell.2021.764732
Keywords: disease modeling; drug development; human skeletal muscle; induced pluripotent stem cells; muscular dystrophy; neuromuscular junction; organ on a chip; tissue engineering.
153. Front Physiol. 2021 Oct 20;12:716471. doi: 10.3389/fphys.2021.716471. eCollection 2021.
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases
Maria Sofia Falzarano 1, Rachele Rossi 1 2, Andrea Grilli 3, Mingyan Fang 4, Hana Osman 1 5, Patrizia Sabatelli 6 7, Manuela Antoniel 6 7, Zhiyuan Lu 4, Wenyan Li 4, Rita Selvatici 1, Cristina Al-Khalili 8, Francesca Gualandi 1, Silvio Bicciato 3, Silvia Torelli 2 9, Alessandra Ferlini 1 2
• 1UOL (Unità Operativa Logistica) of Medical Genetics, University of Ferrara, Ferrara, Italy.
• 2The Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
• 3Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy.
• 4Beijing Genomics Institute (BGI)-Shenzhen, Shenzhen, China.
• 5Department of Medical Microbiology, Faculty of Medical Laboratory Sciences, University of Khartoum, Khartoum, Sudan.
• 6CNR-Institute of Molecular Genetics "Luigi Luca Cavalli-Sforza"- Unit of Bologna, Bologna, Italy.
• 7Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Istituto Ortopedico Rizzoli, Bologna, Italy.
• 8Department of Proteomics, KTH Royal Institute of Technology, Stockholm, Sweden.
• 9National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, United Kingdom.
• PMID: 34744760
• PMCID: PMC8565768
• DOI: 10.3389/fphys.2021.716471
Keywords: RNA-seq; immunofluorescence; neurodegenerative disorders; neuromuscular disorders; urine derived stem cells; western blot (WB).
Review
154. Front Bioeng Biotechnol. 2021 Oct 27;9:782333. doi: 10.3389/fbioe.2021.782333. eCollection 2021.
Recent Trends in Biofabrication Technologies for Studying Skeletal Muscle Tissue-Related Diseases Seungyeun Cho 1, Jinah Jang 1 2 3 4
• 1Department of Convergence IT Engineering, Pohang University of Science and Technology, Pohang, South Korea.
• 2School of Interdisciplinary Bioscience and Bioengineering, Pohang University of Science and Technology, Pohang, South Korea.
• 3Department of Mechanical Engineering, Pohang University of Science and Technology, Pohang, South Korea.
• 4Institute for Convergence Research and Education in Advanced Technology, Yonsei University, Seoul, South Korea.
• PMID: 34778240
• PMCID: PMC8578921
• DOI: 10.3389/fbioe.2021.782333
Keywords: disease modelling; extrusion printing; hiPSC; muscular dystrophy; self-repair; volumetric muscle loss.
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155. J Cardiovasc Magn Reson. 2021 Nov 8;23(1):130. doi: 10.1186/s12968-021-00812-6.
Progressive myocardial injury in myotonic dystrophy type II and facioscapulohumeral muscular dystrophy 1: a cardiovascular magnetic resonance follow-up study
Edyta Blaszczyk 1 2, Carolin Lim 1 2, Peter Kellman 3, Luisa Schmacht 1, Jan Gröschel 1 2, Simone Spuler 4, Jeanette Schulz-Menger 5 6
• 1Department of Cardiology and Nephrology, Working Group Onn Cardiovascular Magnetic Resonance,
Experimental and Clinical Research Center a Joint Cooperation Between the Charité - Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Lindenberger Weg 80, 13125, Berlin, Germany.
• 2DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany.
• 3National Heart, Lung and Blood Institute, National Institute of Health, Bethesda, USA.
• 4Muscle Research Unit, Experimental and Clinical Research Center a Jointoint Cooperationoperation Betweenetween the Charité Medical, Berlin, Germany.
• 5Department of Cardiology and Nephrology, Working Group Onn Cardiovascular Magnetic Resonance,
Experimental and Clinical Research Center a Joint Cooperation Between the Charité - Universitätsmedizin Berlin, Department of Internal Medicine and Cardiology and the Max-Delbrueck Center for Molecular Medicine, and HELIOS Klinikum Berlin Buch, Lindenberger Weg 80, 13125, Berlin, Germany.
jeanette.schulz-menger@charite.de.
• 6DZHK (German Centre for Cardiovascular Research), Partner Site Berlin, Berlin, Germany. jeanette.schulz-menger@charite.de.
• PMID: 34743704
• PMCID: PMC8573966
• DOI: 10.1186/s12968-021-00812-6
Keywords: Facioscapulohumeral muscular dystrophy type 1; Fat; Fibrosis; Magnetic Resonance Imaging; Myotonic dystrophy type 2; Remodeling.
Review
156. Neuromuscul Disord. 2021 Oct;31(10):988-997. doi: 10.1016/j.nmd.2021.08.012.
Intellectual disability in paediatric patients with genetic muscle diseases Sabine Specht 1, Volker Straub 2
• 1John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, UK.
• 2John Walton Muscular Dystrophy Research Centre, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle, UK. Electronic address: volker.straub@newcastle.ac.uk.
• PMID: 34736636
• DOI: 10.1016/j.nmd.2021.08.012
Keywords: Behavioural disorders; Brain imaging; Congenital myotonic dystrophy; Dystroglycanopathy; Dystrophinopathy;
Intellectual disability.
Review
157. Neuromuscul Disord. 2021 Oct;31(10):1081-1089. doi: 10.1016/j.nmd.2021.07.007. Epub 2021 Jul 24.
Genetic neuromuscular disorders: what is the best that we can do?
Nigel G Laing 1, Royston W Ong 2, Gianina Ravenscroft 3
• 1QEII Medical Centre, Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and University of Western Australia, 6 Verdun Street, Nedlands, Western Australia 6009, Australia; Neurogenetic Unit,
Department of Diagnostic Genomics, PathWest Laboratory Medicine, West Australian Department of Health, QEII Medical Centre, Nedlands, Western Australia 6009, Australia. Electronic address:
nigel.laing@perkins.uwa.edu.au.
• 2QEII Medical Centre, Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and University of Western Australia, 6 Verdun Street, Nedlands, Western Australia 6009, Australia.
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• 3QEII Medical Centre, Neurogenetic Diseases Group, Harry Perkins Institute of Medical Research and University of Western Australia, 6 Verdun Street, Nedlands, Western Australia 6009, Australia; School of Biomedical Sciences, University of Western Australia, Nedlands, Western Australia 6009, Australia.
• PMID: 34736628
• DOI: 10.1016/j.nmd.2021.07.007
Keywords: Genetics; Neuromuscular disorders; Reproductive genetic carrier screening.
158. Exp Cell Res. 2021 Nov 2;112906. doi: 10.1016/j.yexcr.2021.112906. Online ahead of print.
Defining and Identifying Satellite Cell-opathies within Muscular Dystrophies and Myopathies Massimo Ganassi 1, Francesco Muntoni 2, Peter S Zammit 3
• 1Randall Centre for Cell and Molecular Biophysics, King's College London, London, SE1 1UL, UK. Electronic address: m.ganassi@kcl.ac.uk.
• 2Dubowitz Neuromuscular Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, United Kingdom.
• 3Randall Centre for Cell and Molecular Biophysics, King's College London, London, SE1 1UL, UK. Electronic address: peter.zammit@kcl.ac.uk.
• PMID: 34740639
• DOI: 10.1016/j.yexcr.2021.112906
Keywords: Muscle stem cell; PAX7; congenital myopathy; muscular dystrophy; myopathogene; neuromuscular disorders;
satellite cell; skeletal muscle.
159. Neurotherapeutics. 2021 Nov 11;1-22. doi: 10.1007/s13311-021-01108-4. Online ahead of print.
Update on Intravenous Immunoglobulin in Neurology: Modulating Neuro-autoimmunity, Evolving Factors on Efficacy and Dosing and Challenges on Stopping Chronic IVIg Therapy
Marinos C Dalakas 1 2
• 1Department of Neurology, Thomas Jefferson University, Philadelphia, PA, USA. marinos.dalakas@jefferson.edu.
• 2Neuroimmunology Unit, Dept. of Pathophysiology, National and Kapodistrian University of Athens Medical School, Athens, Greece. marinos.dalakas@jefferson.edu.
• PMID: 34766257
• PMCID: PMC8585501
• DOI: 10.1007/s13311-021-01108-4
Keywords: IVIg and IgG4 neuro-autoimmunities; Immunomodulation by IVIg; Initiating and stopping IVIg; Intravenous immunoglobulin; Neurological disorders.
160. Eur J Paediatr Neurol. 2021 Oct 27;35:158-164. doi: 10.1016/j.ejpn.2021.10.009. Online ahead of print.
Immunosuppression and immunization: Vaccination in pediatric patients with neuromuscular diseases treated with steroids or immune-modulating drugs
Tanja Golli 1, Andrej Kastrin 2, Marko Pokorn 3, Zvonka Rener-Primec 4
• 1Department of Child, Adolescent and Developmental Neurology, University Children's Hospital Ljubljana, University Medical Center Ljubljana, Slovenia; Department of Paediatrics, Faculty of Medicine, University of Ljubljana, Slovenia.
• 2Institute for Biostatistics and Medical Informatics, Faculty of Medicine, University of Ljubljana, Slovenia.
• 3University Children's Hospital, University Medical Center Ljubljana, Slovenia; Department of Infectious Diseases and Epidemiology, Faculty of Medicine, University of Ljubljana, Slovenia.
• 4Department of Child, Adolescent and Developmental Neurology, University Children's Hospital Ljubljana, University Medical Center Ljubljana, Slovenia; Department of Paediatrics, Faculty of Medicine, University of Ljubljana, Slovenia. Electronic address: zvonka.rener@mf.uni-lj.si.
• PMID: 34752936
• DOI: 10.1016/j.ejpn.2021.10.009
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Keywords: Immune-modulating treatments; Immune-suppressive treatment; Immunization; Neuromuscular disease;
Pediatric; Recommendations; Vaccine.
161. Ital J Pediatr. 2021 Nov 16;47(1):228. doi: 10.1186/s13052-021-01176-4.
Experience in neuromuscular diseases in children and adolescents and their comorbidities in a tertiary hospital
J A Gascón-Navarro # 1, M J De La Torre-Aguilar 2, J A Fernández-Ramos 3 4, J Torres-Borrego # 5, J L Pérez-Navero 1 4
• 1Department of Pediatrics. Reina Sofia University Hospital, Córdoba University, Maimónides Biomedical Research Institute of Córdoba (IMIBIC), Avd. Menéndez Pidal s/n. PC, 14004, Córdoba, Spain.
• 2Department of Pediatrics. Reina Sofia University Hospital, Córdoba University, Maimónides Biomedical Research Institute of Córdoba (IMIBIC), Avd. Menéndez Pidal s/n. PC, 14004, Córdoba, Spain. delatorremj4@gmail.com.
• 3Neuropediatrics Unit. Department of Pediatrics. Reina Sofia University Hospital, Córdoba University, Córdoba, Spain.
• 4Center for Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.
• 5Pediatric Pneumology Unit, Department of Pediatrics. Reina Sofía University Hospital, Córdoba University, Córdoba, Spain.
#Contributed equally.
• PMID: 34784950
• PMCID: PMC8597309
• DOI: 10.1186/s13052-021-01176-4
Review
162. Neuromuscul Disord. 2021 Oct;31(10):1038-1050. doi: 10.1016/j.nmd.2021.08.006. Epub 2021 Oct 9.
Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches
David Gómez-Andrés 1, Amal Oulhissane 2, Susana Quijano-Roy 3
• 1Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, ERN-RND - EURO-NMD, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain; European Network for Reference Centers on Neuromuscular Disorders (Euro-NMD ERN).
• 2Université Paris-Saclay, APHP, Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital, 92390 Garches, France.
• 3Université Paris-Saclay, APHP, Neuromuscular Unit, Pediatric Neurology and ICU Department, Raymond Poincaré Hospital, 92390 Garches, France; UMR 1179, Laboratoire handicap neuromusculaire: physiopathologie biothérapie pharmacologie appliquées (END-ICAP), UFR Simone Veil, Montigny Le Bretonneux, France; French Network of Neuromuscular Reference Centers (FILNEMUS), France. Electronic address: susana.quijano-roy@aphp.fr.
• PMID: 34736625
• DOI: 10.1016/j.nmd.2021.08.006
Keywords: Heat-maps; Muscle MRI; Muscle ultrasound; Myopathies; Pattern recognition; a Machine learning.
163. Physiol Meas. 2021 Nov 11. doi: 10.1088/1361-6579/ac38c0. Online ahead of print.
Nonhomogeneous volume conduction effects affecting needle electromyography: an analytical and simulation study
Xuesong Luo 1, Shaoping Wang 2, Seward B Rutkove 3, Benjamin Sanchez 4
• 1Beihang University, Beijing, 100083, CHINA.
• 2Beihang University, Beijing, CHINA.
• 3Department of Neurology, Harvard Medical School, Division of Neuromuscular Diseases, Harvard Medical School, Beth Israel Deaconess Medical Center, 330 Brookline Avenue, BostonMA 02215 USA., Boston, UNITED STATES.
• 4Electrical and Computer Engineering, The University of Utah, 36 S Wasatch Drive, Salt Lake City, Utah, 84112-9057, UNITED STATES.
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• PMID: 34763321
• DOI: 10.1088/1361-6579/ac38c0
Keywords: Local field potential; Needle electromyogaphy; Neuromuscular disorders; Skeletal muscle.
164. J Phys Ther Sci. 2021 Nov;33(11):818-822. doi: 10.1589/jpts.33.818. Epub 2021 Nov 9.
Inter-rater reliability of a wright respirometer to measure vital capacity in neuromuscular disorders Ryuji Yoshinaga 1 2 3, Haruki Futsuhara 1
• 1Department of Rehabilitation, National Hospital Organization Miyazaki Higashi Hospital, Japan.
• 2Department of Rehabilitation, National Hospital Organization Nagasaki Medical Center: 2-1001-1 Kubara, Omura-city, Nagasaki 856-8562, Japan.
• 3Department of Cardiopulmonary Rehabilitation Science, Nagasaki University Graduate School of Biomedical Sciences, Japan.
• PMID: 34776615
• PMCID: PMC8575478
• DOI: 10.1589/jpts.33.818
Keywords: Neuromuscular disorder; Reliability; Wright respirometer.
165. Rev Med Suisse. 2021 Nov 17;17(759):1962-1966.
[Diaphragmatic assessment by ultrasonography]
[Article in French]
Aileen Kharat 1, Jérôme Plojoux 1
• 1Service de pneumologie, Département de médecine, Hôpitauxl universitaires de Genève, HUG, et Université de Genève, 1211 Genève 14.
• PMID: 34787969 Review
166. Skelet Muscle. 2021 Nov 12;11(1):25. doi: 10.1186/s13395-021-00280-7.
The SarcoEndoplasmic Reticulum Calcium ATPase (SERCA) pump: a potential target for intervention in aging and skeletal muscle pathologies
Hongyang Xu 1, Holly Van Remmen 2 3 4
• 1Aging & Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA.
• 2Aging & Metabolism Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, 73104, USA. Holly-VanRemmen@omrf.org.
• 3Oklahoma City VA Medical Center, Oklahoma City, OK, USA. Holly-VanRemmen@omrf.org.
• 4Department of Physiology, OUHSC, Oklahoma City, OK, USA. Holly-VanRemmen@omrf.org.
• PMID: 34772465
• PMCID: PMC8588740
• DOI: 10.1186/s13395-021-00280-7
Keywords: Aging; Calcium homeostasis; Neuromuscular disorder; Oxidative stress; SERCA; Skeletal muscle.
167. Int J Mol Sci. 2021 Nov 7;22(21):12051. doi: 10.3390/ijms222112051.
Tks5 Regulates Synaptic Podosome Formation and Stabilization of the Postsynaptic Machinery at the Neuromuscular Junction
Marcin Pęziński 1 2, Kamila Maliszewska-Olejniczak 1, Patrycja Daszczuk 1, Paula Mazurek 1, Paweł Niewiadomski 1 3, Maria Jolanta Rędowicz 2
• 1Laboratory of Synaptogenesis, Nencki Institute of Experimental Biology, Polish Academy of Sciences, 3 Pasteur St., 02-787 Warszawa, Poland.
• 2Laboratory of Molecular Basis of Cell Motility, Nencki Institute of Experimental Biology, Polish Academy of Sciences, 3 Pasteur St., 02-787 Warszawa, Poland.
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• 3Centre of New Technologies, Laboratory of Molecular and Cellular Signalling, University of Warsaw, 2c Stefan Banach St., 02-787 Warszawa, Poland.
• PMID: 34769479
• PMCID: PMC8585010
• DOI: 10.3390/ijms222112051
Keywords: Tks5; actin; neuromuscular junction; podosomes; postsynaptic machinery; rapsyn.
Review
168. Int J Mol Sci. 2021 Oct 27;22(21):11587. doi: 10.3390/ijms222111587.
Molecular Mechanisms of Muscle Fatigue Dumitru Constantin-Teodosiu 1, Despina Constantin 1
• 1Division of Physiology, Pharmacology and Neuroscience, School of Life Sciences, Queen's Medical Centre, University of Nottingham Medical School, Nottingham NG7 2UH, UK.
• PMID: 34769017
• PMCID: PMC8584022
• DOI: 10.3390/ijms222111587
Keywords: atrophy; fatigue; muscle function; skeletal muscle.