155. Mol Genet Genomic Med. 2021 Dec 12;e1846. doi: 10.1002/mgg3.1846. Online ahead of print.
Infantile-onset CMT2D/dSMA-V in a Chinese family with parental germline mosaicism for a novel mutation in the GARS1 gene
Yufeng Huang 1, Bo Bi 2, Peiwei Zhao 1, Ting Yu 1, Sukun Luo 1, Li Tan 1, Zhisheng Liu 2, Jie Liu 3, Xuelian He 1
• 1Precision Medical Center, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
• 2Department of Rehabilitation, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
• 3Department of Gastroenterology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
• PMID: 34898052
• DOI: 10.1002/mgg3.1846
Keywords: GARS1; CMT2D/dSMA-V; exome sequencing; infant onset; mosaic.
156. Hum Genet. 2021 Dec 14. doi: 10.1007/s00439-021-02409-6. Online ahead of print.
Differential fates of introns in gene expression due to global alternative splicing
Anjani Kumari 1, Saam Sedehizadeh 1, John David Brook 1, Piotr Kozlowski 2, Marzena Wojciechowska 3 4
• 1Queen's Medical Centre, School of Life Sciences, University of Nottingham, Nottingham, NG7 2UH, UK.
• 2Department of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704, Poznan, Poland.
• 3Department of Molecular Genetics, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704, Poznan, Poland. mwojska@ibch.poznan.pl.
• 4Department of Rare Human Diseases, Institute of Bioorganic Chemistry, Polish Academy of Sciences, 61-704, Poznan, Poland. mwojska@ibch.poznan.pl.
• PMID: 34907472
• DOI: 10.1007/s00439-021-02409-6
157. Front Genet. 2021 Nov 24;12:775395. doi: 10.3389/fgene.2021.775395. eCollection 2021.
Exploring the Diverse Functional and Regulatory Consequences of Alternative Splicing in Development and Disease
M Brandon Titus 1, Adeline W Chang 1, Eugenia C Olesnicky 1
• 1University of Colorado Colorado Springs, Colorado Springs, CO, United States.
• PMID: 34899861
• PMCID: PMC8652244
• DOI: 10.3389/fgene.2021.775395
Keywords: RNA binding proteins; RNA localization; alternative last exon (ALE); alternative splicing; poison exons;
premature termination codon (PTC); splicing factors.
158. Nucleic Acids Res. 2021 Dec 10;gkab1199. doi: 10.1093/nar/gkab1199. Online ahead of print.
Palmitic acid conjugation enhances potency of tricyclo-DNA splice switching oligonucleotides
Karima Relizani 1 2, Lucía Echevarría 1 2, Faouzi Zarrouki 1 3, Cécile Gastaldi 4, Chloe Dambrune 1, Philippine Aupy 1, Adrian Haeberli 5, Marek Komisarski 5, Thomas Tensorer 2 5, Thibaut Larcher 6, Fedor Svinartchouk 2, Cyrille Vaillend 3, Luis Garcia 1 4, Aurélie Goyenvalle 1 4
• 1Université Paris-Saclay, UVSQ, Inserm, END-ICAP, 78000 Versailles, France.
• 2SQY Therapeutics, UVSQ, 78180 Montigny le Bretonneux, France.
• 3Université Paris-Saclay, CNRS, Institut des Neurosciences Paris Saclay, 91190, Gif-sur-Yvette, France.
• 4LIA BAHN, centre scientifique de Monaco, 98000, Monaco.
• 5SYNTHENA AG, Bern, Switzerland.
• 6INRAE Oniris, UMR 703 PAnTher, Nantes, France.
• PMID: 34893881
• DOI: 10.1093/nar/gkab1199
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021)
159. Expert Rev Proteomics. 2021 Dec 10. doi: 10.1080/14789450.2021.2017776. Online ahead of print.
Proteomic profiling of carbonic anhydrase CA3 in skeletal muscle
Paul Dowling 1 2, Stephen Gargan 1 2, Margit Zweyer 3, Hemmen Sabir 3, Dieter Swandulla 4, Kay Ohlendieck 1 2
• 1Department of Biology, Maynooth University, National University of Ireland, Maynooth W23F2H6, Co. Kildare, Ireland.
• 2Kathleen Lonsdale Institute for Human Health Research, Maynooth University, Maynooth W23F2H6, Co. Kildare, Ireland.
• 3Department of Neonatology and Pediatric Intensive Care, Children's Hospital, University of Bonn, D-53113 Bonn, Germany.
• 4Institute of Physiology, University of Bonn, D-53115 Bonn, Germany.
• PMID: 34890519
• DOI: 10.1080/14789450.2021.2017776
Keywords: CA3; aging; biomarker; carbonic anhydrase; denervation; dystrophinopathy; muscle damage; muscle degeneration; muscular dystrophy; sarcopenia of old age.
Review
160. Paediatr Anaesth. 2021 Dec 5. doi: 10.1111/pan.14359. Online ahead of print.
Respiratory prehabilitation in pediatric anesthesia in children with muscular and neurologic disease Aaron St-Laurent 1, Zofia Zysman-Colman 2, David Zielinski 3
• 1Division of Respirology, Department of Paediatrics, London Health Sciences Centre Children's Hospital, Schulich School of Medicine & Dentistry, Western University, London, Ontario, Canada.
• 2Division of Respiratory Medicine, Department of Pediatrics, Centre Hospitalier Universitaire Sainte-Justine, University of Montreal, Montreal, Quebec, Canada.
• 3Division of Respiratory Medicine, Department of Pediatrics, Montreal Children's Hospital, Montreal Children's Hospital Research Institute, McGill University, Montreal, Quebec, Canada.
• PMID: 34865276
• DOI: 10.1111/pan.14359
Keywords: Duchenne muscular dystrophy; cerebral palsy; muscle disorders; neuromuscular disease; non-invasive ventilation; pediatric; scoliosis.
Case Reports
161. J Med Case Rep. 2021 Dec 16;15(1):616. doi: 10.1186/s13256-021-03178-6.
Thymoma may explain the confusion: a case report
Abdelkhaleq Maaroufi 1, Naoufal Assoufi 2, Mohamed Amine Essaoudi 3, Jamal Fatihi 2
• 1Department of Internal Medicine B, Mohamed V Military Hospital, Faculty of Medical Sciences, University Mohammed V, Rabat, Morocco. dr.maaroufi.tf@gmail.com.
• 2Department of Internal Medicine B, Mohamed V Military Hospital, Faculty of Medical Sciences, University Mohammed V, Rabat, Morocco.
• 3Department of pathology, Mohamed V Military Hospital, Faculty of Medical Sciences, University Mohammed V, Rabat, Morocco.
• PMID: 34911585
• PMCID: PMC8675449
• DOI: 10.1186/s13256-021-03178-6
Keywords: Association; Inflammatory myopathy; Myasthenia gravis; Thymoma.
162. Annu Int Conf IEEE Eng Med Biol Soc. 2021 Nov;2021:7099-7102. doi: 10.1109/EMBC46164.2021.9629852.
Volitional EMG Controlled Wearable FES System for Lower Limb Rehabilitation Joonyoung Jung, Dong-Woo Lee, Yongki Son, Baeseon Kim, Jabeom Gu, Hyung Cheol Shin
• PMID: 34892737
• DOI: 10.1109/EMBC46164.2021.9629852
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021)
163. Annu Int Conf IEEE Eng Med Biol Soc. 2021 Nov;2021:6728-6733. doi: 10.1109/EMBC46164.2021.9630152.
Gait Evaluation with Bioelectrical Signal Patterns during Cybernic Treatment Yasuko Namikawa, Hiroaki Kawamoto, Yoshiyuki Sankai
• PMID: 34892652
• DOI: 10.1109/EMBC46164.2021.9630152 Editorial
164. Front Mol Neurosci. 2021 Nov 22;14:797832. doi: 10.3389/fnmol.2021.797832. eCollection 2021.
Editorial: Molecular Mechanisms Underlying Assembly and Maintenance of the Neuromuscular Junction
Ruth Herbst 1, Inga Koneczny 2, Hanns Lochmüller 3 4 5, Laure Strochlic 6
• 1Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.
• 2Division of Neuropathology and Neurochemistry, Department of Neurology, Medical University of Vienna, Vienna, Austria.
• 3Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
• 4Division of Neurology, Department of Medicine, The Ottawa Hospital, University of Ottawa, Ottawa, ON, Canada.
• 5Brain and Mind Research Institute, University of Ottawa, Ottawa, ON, Canada.
• 6Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Institut de Myologie, Centre de Recherche en Myologie, Paris, France.
• PMID: 34880729
• PMCID: PMC8645787
• DOI: 10.3389/fnmol.2021.797832
Keywords: aging; experimental disease models; motor neuron; muscle weakness; neuromuscular disease; neuromuscular junction; skeletal muscle.
Review
165. Front Genet. 2021 Nov 10;12:735936. doi: 10.3389/fgene.2021.735936. eCollection 2021.
Consensus Guidelines for Improving Quality of Assessment and Training for Neuromuscular Diseases Tina Duong 1 2, Kristin J Krosschell 3, Meredith K James 4, Leslie Nelson 5, Lindsay N Alfano 6 7, Katy Eichinger 8, Elena Mazzone 9, Kristy Rose 10, Linda P Lowes 6 7, Anna Mayhew 4, Julaine Florence 11, Wendy King 12, Claudia R
Senesac 13, Michelle Eagle 4 14
• 1Department of Neurology, Stanford University, Palo Alto, CA, United States.
• 2Children's National Hospital, Washington, DC, United States.
• 3Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL, United States.
• 4The John Walton Muscular Dystrophy Research Centre, Newcastle Hospitals NHS Foundation Trust, Newcastle University, Newcastle upon Tyne, United Kingdom.
• 5Department of Physical Therapy, University of Texas Southwestern Medical Center, Dallas, TX, United States.
• 6Department of Pediatrics, The Ohio State University, Columbus, OH, United States.
• 7Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH, United States.
• 8Department of Neurology, University of Rochester Medical Center, Rochester, NY, United States.
• 9Department of Child Neurology, Catholic University Policlinico Gemelli, Rome, Italy.
• 10Discipline of Physiotherapy, Faculty of Medicine and Health, The Sydney Children's Hospital Network, University of Sydney, Sydney, NSW, Australia.
• 11Department of Neurology, Washington University School of Medicine, St. Louis, MO, United States.
• 12Department of Neurology, The Ohio State University, Columbus, OH, United States.
• 13Department of Physical Therapy, University of Florida, Gainesville, FL, United States.
• 14ATOM International Ltd., Newcastle upon Tyne, United Kingdom.
• PMID: 34858470
• PMCID: PMC8631528
• DOI: 10.3389/fgene.2021.735936
Keywords: clinical evaluation education; clinical outcomes assessment; clinical trial readiness; evaluator training;
neuromuscular disease (NMD).
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021) 166. BMC Pulm Med. 2021 Dec 2;21(1):394. doi: 10.1186/s12890-021-01764-4.
Results of the home mechanical ventilation national program among adults in Chile between 2008 and 2017
César Maquilón 1 2, Mónica Antolini 3 4, Nicolás Valdés 5, Marianela Andrade 4, Krishnna Canales 3 4, Claudio
Rabec 6, Cristian Olave 4 7, Miguel Aguayo 4, Patricia Rivas 4, Carmen Andrade 4, Ángela Venegas 4, Sandra Zapata 4, María Elena Torres 4, Osvaldo Cabrera 7, Jorge Villalobos 4
• 1Department of Respiratory Diseases, Clínica Dávila, Recoleta 464, Building H, 6th floor, Santiago, Chile.
cesarmaquilon25@gmail.com.
• 2Ministry of Health, AVNIA-AVIA Programs, Santiago, Chile. cesarmaquilon25@gmail.com.
• 3Department of Respiratory Diseases, Clínica Dávila, Recoleta 464, Building H, 6th floor, Santiago, Chile.
• 4Ministry of Health, AVNIA-AVIA Programs, Santiago, Chile.
• 5School of Nursing and Obstetrics, Universidad de los Andes, Santiago, Chile.
• 6Service de Pneumologie Et Soins Intensifs Respiratoires, CHU Dijon Bourgogne, Dijon, France.
• 7Instituto Nacional del Tórax, Santiago, Chile.
• PMID: 34856963
• PMCID: PMC8641152
• DOI: 10.1186/s12890-021-01764-4
Keywords: Chronic respiratory failure; Domiciliary ventilation; Home mechanical ventilation; Long term ventilation; Obesity hypoventilation syndrome.
167. Ann Clin Transl Neurol. 2021 Dec 15. doi: 10.1002/acn3.51477. Online ahead of print.
Genetic defects are common in myopathies with tubular aggregates
Qiang Gang 1 2 3 4, Conceição Bettencourt 5 6, Stefen Brady 7, Janice L Holton 4 5, Estelle G Healy 8, John
McConville 9, Patrick J Morrison 10, Michela Ripolone 11, Raffaella Violano 11, Monica Sciacco 11, Maurizio Moggio 11, Marina Mora 12, Renato Mantegazza 12, Simona Zanotti 12, Zhaoxia Wang 1 2, Yun Yuan 1 2, Wei-Wei Liu 13, David
Beeson 13, Michael Hanna 3 4, Henry Houlden 3 4 14
• 1Department of Neurology, Peking University First Hospital, 8 Xishiku Street, Xicheng District, Beijing, 100034, China.
• 2Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.
• 3Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London, UK.
• 4MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, Queen Square, London,
• UK. 5Queen Square Brain Bank for Neurological Disorders, London, UK.
• 6Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, Queen Square, London,
• UK. 7Oxford Muscle Service, John Radcliffe Hospital, Oxford, UK.
• 8Department of Neuropathology, Royal Victoria Hospital, Belfast, Northern Ireland.
• 9Department of Neurology, Belfast City Hospital, Belfast, BT9 7AB, UK.
• 10Department of Genetic Medicine, Belfast City Hospital, Belfast, BT9 7AB, UK.
• 11Neuromuscular and Rare Diseases Unit, Department of Neuroscience, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Centre, University of Milan, Milan, Italy.
• 12Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Isitituto Neurologico C. Besta, Milano, Italy.
• 13Neurosciences Group, Nuffield Department of Clinical Neurosciences, Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
• 14Neurogenetics Laboratory, UCL Queen Square Institute of Neurology, Queen Square, WC1N 3BG, London, UK.
• PMID: 34908252
• DOI: 10.1002/acn3.51477
168. Med Sci (Paris). 2021 Nov;37 Hors série n° 1:44-45. doi: 10.1051/medsci/2021192. Epub 2021 Dec 8.
[Exosomes: Multi-faceted natural intercellular messengers as new candidates for the treatment of myopathies?]
[Article in French]
Alexandra Bayer-Wildberger 1, Judith Lorant 2, Jean-Thomas Vilquin 1
• 1Sorbonne Université, Inserm, Centre de Recherche en Myologie, Institut de Myologie, Paris, France.
• 2Insem/UEPS UMR 861, Paris Saclay Université, I-STEM, Corbeil-Essonnes, France.
Bibliographie sur les maladies neuromusculaires Bibliography of neuromuscular disorders
n° 2021-12-1 du 3 au 16 décembre 2021 (December 3 to 16, 2021)
• PMID: 34878395
• DOI: 10.1051/medsci/2021192
Article in MYOBASE : https://www.myobase.org/index.php?lvl=notice_display&id=73901