168. Review
Front Cell Dev Biol . 2021 Apr 13;9:662837. doi: 10.3389/fcell.2021.662837. eCollection 2021.
The Potential of Induced Pluripotent Stem Cells to Test Gene Therapy Approaches for Neuromuscular and Motor Neuron Disorders
Marisa Cappella 1 , Sahar Elouej 1 , Maria Grazia Biferi 1
• 1 Sorbonne University, INSERM, Institute of Myology, Center of Research in Myology, Paris, France.
• PMID: 33937264
• PMCID: PMC8080375
• DOI: 10.3389/fcell.2021.662837
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-05-1 du 23 avril 2021 au 06 mai 2021 (April 23 to May 6, 2021) Keywords: AAV; ASOs; IPSCs; MND; NMD; gene therapy.
169. Review
Molecules . 2021 Apr 14;26(8):2263. doi: 10.3390/molecules26082263.
RNA-Targeting Splicing Modifiers: Drug Development and Screening Assays Zhichao Tang 1 , Junxing Zhao 1 , Zach J Pearson 1 , Zarko V Boskovic 1 , Jingxin Wang 1
• 1 Department of Medicinal Chemistry, University of Kansas, Lawrence, KS 66047, USA.
• PMID: 33919699
• PMCID: PMC8070285
• DOI: 10.3390/molecules26082263
Keywords: RNA-targeting; alternative splicing; antisense oligonucleotide; high-throughput screening; small molecule;
splicing modifier.
170. Muscle Nerve . 2021 Apr 23. doi: 10.1002/mus.27254. Online ahead of print.
Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire
Nicolas Audag 1 2 3 4 , Giuseppe Liistro 3 , Christophe Goubau 5 6 , Laure Vandervelde 4 , William Poncin 1 2 3 , Michel Toussaint 7 , Peter Van den Bergh 6 , Gregory Reychler 1 2 3 4
• 1 Institut de Recherche Expérimentale et Clinique, Pôle de Pneumologie, ORL & Dermatologie, Groupe Recherche en Kinésithérapie Respiratoire, Université Catholique de Louvain, Brussels, Belgium.
• 2 Secteur de Kinésithérapie et Ergothérapie, Cliniques universitaires Saint-Luc, Brussels, Belgium.
• 3 Service de Pneumologie, Cliniques universitaires Saint-Luc, Brussels, Belgium.
• 4 Haute École Léonard de Vinci, Parnasse-ISEI, Brussels, Belgium.
• 5 Unité de Pneumologie pédiatrique, Cliniques universitaires Saint-Luc, Brussels, Belgium.
• 6 Centre de Référence Neuromusculaire, Cliniques universitaires Saint-Luc, Brussels, Belgium.
• 7 Inkendaal Rehabilitation Hospital, Vlezenbeek, Belgium.
• PMID: 33890683
• DOI: 10.1002/mus.27254
Keywords: Sydney Swallow Questionnaire; neuromuscular diseases; oropharyngeal dysphagia; screening.
171. Review
J Clin Invest . 2021 May 3;131(9):e148372. doi: 10.1172/JCI148372.
Targeting the myostatin signaling pathway to treat muscle loss and metabolic dysfunction Se-Jin Lee 1 2
• 1 The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, USA.
• 2 University of Connecticut School of Medicine, Department of Genetics and Genome Sciences, Farmington, Connecticut, USA.
• PMID: 33938454
• PMCID: PMC8087205 (available on 2022-05-03)
• DOI: 10.1172/JCI148372
172. Curr Med Chem . 2021 May 3. doi: 10.2174/0929867328666210504113445. Online ahead of print.
Mediterranean Diet, Brain and Muscle: Olive Polyphenols and Resveratrol Protection in Neurodegenerative and Neuromuscular Disorders
Carla Petrella 1 , Maria Grazia Di Certo 1 , Francesca Gabanella 1 , Christian Barbato 1 , Flavio Maria Ceci 2 , Antonio Greco 3 , Massimo Ralli 3 , Antonella Polimeni 4 , Antonio Angeloni 2 , Cinzia Severini 1 , Mario Vitali 5 , Giampiero Ferraguti 2 , Mauro Ceccanti 6 , Marco Lucarelli 2 , Carola Severi 7 , Marco Fiore 1
• 1 Institute of Biochemistry and Cell Biology, Section of Neurobiology, (IBBC-CNR), Rome. Italy.
• 2 Department of Experimental Medicine, Sapienza University of Rome, Rome. Italy.
• 3 Department of Sense Organs, Medical faculty, Sapienza University of Rome, Rome. Italy.
• 4 Department of Odontostomatological and Maxillofacial Sciences, Sapienza University of Rome. Italy.
• 5 ASUR Marche, AV4, Ancona. Italy.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-05-1 du 23 avril 2021 au 06 mai 2021 (April 23 to May 6, 2021)
• 6 Sitac, Societa' Italiana per lo Studio delle Patologie Alcool Derivate. Rome. Italy.
• 7 Dept of Translational and Precision Medicine, Sapienza University of Rome, Rome. Italy.
• PMID: 33949928
• DOI: 10.2174/0929867328666210504113445
Keywords: ALS; DMD; SMA; aging; alcohol-related brain disorders; microbiota; olive polyphenols; resveratrol.
173. Editorial
Muscle Nerve. 2021 May 6. doi: 10.1002/mus.27258. Online ahead of print.
Quantitative Muscle Echointensity- a practical approach using ultrasound to evaluate children with suspected neuromuscular disorders
Craig M Zaidman 1, Lisa D Hobson-Webb 2
• 1Departments of Neurology and Pediatrics, Washington University St. Louis, Missouri.
• 2Department of Neurology, Neuromuscular Division Duke University, Durham, North Carolina, USA.
• PMID: 33955575
• DOI: 10.1002/mus.27258 No abstract available
174. Dev Neurorehabil. 2021 May 4;1-10. doi: 10.1080/17518423.2021.1908440. Online ahead of print.
Parent Carer Quality of Life and Night-Time Attendance in Non-Ambulant Youth with Neuromuscular Disorders
Vivienne Travlos 1, Shane Patman 1, Jenny Downs 2 3, Dana Hince 4, Andrew C Wilson 2 5
• 1School of Physiotherapy, University of Notre Dame Australia, Fremantle, Western Australia, Australia.
• 2Telethon Kids Institute, Hospital Avenue, Nedlands, Western Australia, Australia.
• 3School of Physiotherapy and Exercise Science, Curtin University, Bentley, Western Australia, Australia.
• 4Institute of Health Research, University of Notre Dame Australia, Fremantle, Western Australia, Australia.
• 5Respiratory Medicine, Perth Children's Hospital, Hospital Avenue, Nedlands, Western Australia, Australia.
• PMID: 33944675
• DOI: 10.1080/17518423.2021.1908440
Keywords: Neuromuscular disorders; noninvasive ventilation; parent carer quality of life; sleep; youth.
175. Review
Int J Mol Sci. 2021 Apr 20;22(8):4274. doi: 10.3390/ijms22084274.
The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases
Dèlia Yubero 1 2, Daniel Natera-de Benito 3, Jordi Pijuan 4, Judith Armstrong 1 2, Loreto Martorell 1 4, Guerau Fernàndez 1 2, Joan Maynou 1 2, Cristina Jou 5, Mònica Roldan 1 6, Carlos Ortez 3 7, Andrés Nascimento 2 3, Janet Hoenicka 2 4, Francesc Palau 1 2 4 5
• 1Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
• 2Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, 08950 Barcelona, Spain.
• 3Neuromuscular Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
• 4Laboratory of Neurogenetics and Molecular Medicine-IPER, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
• 5Department of Pathology, Hospital Sant Joan de Déu, Pediatric Biobank for Research, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
• 6Confocal Microscopy and Cellular Imaging Unit, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.
• 7Division of Pediatrics, Clinic Institute of Medicine & Dermatology, Hospital Clínic, University of Barcelona School of Medicine and Health Sciences, 08950 Barcelona, Spain.
• PMID: 33924139
• PMCID: PMC8074304
• DOI: 10.3390/ijms22084274
Keywords: genetic diagnostics; molecular diagnostics; multi-omics; neuromuscular diseases; translational diagnostics;
translational research.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-05-1 du 23 avril 2021 au 06 mai 2021 (April 23 to May 6, 2021)
176. Review
Diagnostics (Basel). 2021 Apr 14;11(4):701. doi: 10.3390/diagnostics11040701.
Facilitations and Hurdles of Genetic Testing in Neuromuscular Disorders Andrea Barp 1, Lorena Mosca 2, Valeria Ada Sansone 1
• 1The NEMO Clinical Center in Milan, Neurorehabilitation Unit, University of Milan, Piazza Ospedale Maggiore 3, 20162 Milano, Italy.
• 2Medical Genetics Unit, ASST Grande Ospedale Metropolitano Niguarda, Piazza Ospedale Maggiore 3, 20162 Milano, Italy.
• PMID: 33919863
• PMCID: PMC8070835
• DOI: 10.3390/diagnostics11040701
Keywords: genetic testing; neuromuscular disease; next generation sequencing; whole exome sequencing.
177. Acta Neurol Belg. 2021 Apr 23. doi: 10.1007/s13760-021-01681-7. Online ahead of print.
Electromyography in infants: experience from a pediatric neuromuscular center Obehioya T Irumudomon 1, Partha S Ghosh 2
• 1Department of Neurology, Cohen Children's Medical Center, New Hyde Park, NY, USA.
• 2Department of Neurology, Boston Children's Hospital, 300 Longwood Ave, Boston, MA, 02115, USA.
partha.ghosh@childrens.harvard.edu.
• PMID: 33891285
• DOI: 10.1007/s13760-021-01681-7
Keywords: EMG; Electromyography; Infant; Nerve conduction study; Neuromuscular disorders.