医学
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Integrating EMG and plasma biomarkers to characterize neuromuscular remodeling in sarcopenia
作者Rizwan Qaisar; Mashal Javed; Imran Muhammad Khan; Firdos Ahmad; Asima Karim
作者单位Basic Medical Sciences, College of Medicine, University of Sharjah, Sharjah, 27272, United Arab Emirates; Space Medicine Research Group, Research Institute of Medical and Health Sciences, University of Sharjah, Sharjah, 27272, United Arab Emirates; Cardiovascular Research Group, Research Institute of Medical and Health Sciences, University of Sharjah, Sharjah, 27272, United Arab Emirates; Department of Physiotherapy, Burns and Plastic Surgery Center, Hayatabad Medical Complex, Peshawar, 25124, Pakistan; Iron Biology Research Group, Research Institute of Medical and Health Sciences, University of Sharjah, Sharjah, 27272, United Arab Emirates
Histological, functional, and behavioral comparison of three Duchenne muscular dystrophy mouse models
作者Dhanarajan Rajakumar; Camila F. Almeida; Alex Brinkman; Ding Li; Alice Rannou; Chaitrali Atre; Tatyana A. Vetter; Courtney S. Young; Kevin Flanigan; Melissa J. Spencer; Nicolas Wein
作者单位Center for Gene Therapy, The Abigail Wexner Research Institute, Nationwide Children’s Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University, Columbus, OH, USA; MyoGene Bio, 7098 Miratech Dr Suite 120 San Diego, 92121, USA; Department of Neurology, David Geffen School of Medicine at UCLA Neuroscience Research Building, Los Angeles, CA, 90095, USA; Department of Neurology, Ohio State University, Columbus, OH, USA; Nantes Université, CHU de Nantes, INSERM, TaRGeT-Translational Research in Gene Therapy, UMR 1089, F-44200, Nantes, France
Diaphragmatic ultrasound could unmask subclinical respiratory dysfunction in non-severe myasthenia gravis: a cross-sectional analysis
作者Aya E. Zhran; Mostafa Abdelkhalek; Michael S. Cartwright; Ayman Abdelnaby; Mohammed Shehta; Ahmed S. Alkotami; Ahmed Hamdy
作者单位Department of Neurology, Faculty of Medicine, Mansoura University, Mansoura, Egypt; Department of Anesthesiology and Surgical Intensive Care, Faculty of Medicine, Mansoura University, Mansoura, Egypt; Wake Forest School of Medicine, Winston-Salem, North Carolina, USA; Department of Chest Medicine, Faculty of Medicine, Mansoura University, Mansoura, Egypt; Department of Neurology, Faculty of Medicine, Tanta University, Tanta, Egypt
Identification of a novel likely pathogenic MT-TS2 variant in a patient with mitochondrial myopathy, retinitis pigmentosa and sensorineural hearing loss
作者Madalena Couto; Mafalda Delgado Soares; Pedro Coelho; Rafael Roque; Marisa Brum
作者单位Neurology Department, Unidade Local de Saúde de São José, Lisbon, Portugal; Neuropathology Lab, Neurology Department, Unidade Local de Saúde de Santa Maria, Lisbon, Portugal
Peroxisomal disorder associated with ACOX1 gain-of-function mimicking neuroinflammatory disease
作者Rocio Victoria Garcia; Hilda Verónica Aráoz; Silvina Gómez Montoya; Virginia Kobayashi; Daniela Alejandra Pibernus; Miguel Miranda; Carlos Rugilo; Cristina Alonso; Mariana Loos; Soledad Monges
作者单位Department of Neurology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Combate de los Pozos 1881, Buenos Aires, Argentina; Genomics Unit, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina; Molecular Biology Laboratory-Genetics, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina; Imaging Department, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina
Association between postoperative peripheral blood CD3+ T-cell percentage and recurrence after thymectomy in non-thymomatous myasthenia gravis: a retrospective cohort study
作者Ying Cui; Yutong Shi; Xiaohe Zhang; Xiaojing Zhang; Yinping Xue; Guoyan Qi; Hao Zhang
作者单位Department of Neurology, Beijing Tiantan Hospital, Capital Medical University, Beijing, China; Department of Neurology, Tianjin Medical University General Hospital, Tianjin, China; Center of Myasthenia Gravis, Shijiazhuang People’s Hospital, Shijiazhuang, China; Department of Neurology, The First People’s Hospital of Changzhou, China
Evaluation of antibody reactivity to dystrophin products: does Dp40 really exist?
作者Takahiro Fujimoto; Kyoko Itoh
作者单位Department of Pathology and Applied Biology, Kyoto Prefectural University of Medicine, Graduate School of Medical Science, 465 Kajii-cho, Kawaramachi Hirokoji, Kamigyo-ku, Kyoto, 602-8566, Japan
Gastrointestinal manifestations are common and highly burdensome in patients with adult-onset myotonic dystrophy type 1
作者Louise Iterbeke; Bente Ponsaerts; Ingrid Demedts; Lucas Van Aelst; Bertien Buyse; Kristl G. Claeys
作者单位Laboratory for Muscle Diseases and Neuropathies, Department of Neurosciences, KU Leuven, and Leuven Brain Institute (LBI) and Leuven Institute for Rare Diseases (Leuven.IRD), Leuven, Belgium; Department of Gastroenterology and Hepatology, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Diseases, University Hospitals Leuven, Leuven, Belgium; Department of Cardiovascular Sciences, KU Leuven, Leuven, Belgium; Department of Respiratory Diseases, Leuven University Center for Sleep and Wake Disorders, University Hospitals Leuven, Leuven, Belgium; Respiratory Disease and Thoracic Surgery (BREATH), Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium; Department of Neurology, University Hospitals Leuven, Leuven, Belgium
Genetic susceptibility to thrombotic microangiopathy in a 10-month-old patient with SMA type 1: a caveat for gene therapy eligibility
作者Rossella D'Alessandro; Alessandra Somà; Martina Vacchetti; Anna Salvalaggio; Eleonora Guarnone; Ilaria Cavallina; Enrica Rolle; Francesca Rossi; Davide Montin; Francesco Saglio; Licia Peruzzi; Marco Barberis; Luca Sbaiz; Silvia Deaglio; Franca Fagioli; Tiziana Enrica Mongini; Federica Silvia Ricci
作者单位Department of Public Health and Pediatric Sciences, “Regina Margherita” Children’s Hospital, University of Turin, Italy; Child and Adolescence Neuropsychiatry Unit, “Regina Margherita” Children’s Hospital, University of Turin, Italy; Pediatric Immunology and Rheumatology Unit, “Regina Margherita” Children’s Hospital, Turin, Italy; Paediatric Onco-Hematology, Stem Cell Transplantation and Cellular Therapy Unit, “Regina Margherita” Children’s Hospital, Turin, Italy; Pediatric Nephrology Unit, “Regina Margherita” Children’s Hospital, Turin, Italy; Laboratory of Genetics, Department of Clinical Pathology, AOU Città della Salute e della Scienza di Torino, Turin, Italy; Immunogenetics and Transplant Biology Unit, AOU Città della Salute e della Scienza di Torino, Turin, Italy; Department of Medical Sciences, University of Turin, Turin, Italy; Department of Neurosciences, Neuromuscular Unit, AOU Città della Salute e della Scienza di Torino, University of Turin, Italy
Patient-reported symptoms, fatigue, functional impairment and quality of life in RYR1-related malignant hyperthermia and exertional rhabdomyolysis
作者Luuk R van den Bersselaar; Nick Kruijt; Erik-Jan Kamsteeg; Miguel A Fernandez-Garcia; Susan Treves; Chu-Ya Yang; Babette Laarhuis; Ignacio Malagon; Gert-Jan Scheffer; Heinz Jungbluth; Marc MJ Snoeck; José AE Custers; Nicol C Voermans
作者单位Department of Anesthesiology, Pain and Palliative Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; Malignant Hyperthermia Investigation Unit, Department of Anesthesiology, Canisius Wilhelmina Hospital, Nijmegen, The Netherlands; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Primary and Community Care, Radboudumc, Nijmegen, The Netherlands; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands; Department of Paediatric Neurology, Neuromuscular Service, Evelina London Children's Hospital, Guy's and St Thomas' Hospital NHS Foundation Trust, London, United Kingdom; Departments of Biomedicine and Neurology, Neuromuscular research Group, University Hospital Basel, Basel, Switzerland; Department of Life Sciences, University of Ferrara, Ferrara, Italy; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, United Kingdom; Department of Medical Psychology, Radboudumc, Nijmegen, The Netherlands
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