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Tytuł :
Intracranial hemorrhage secondary to vitamin K deficiency in X-linked myotubular myopathy.
Autorzy :
Neese JM; Division of Critical Care Medicine, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, United States.
Yum S; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States.
Matesanz S; Division of Neurology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Raffini LJ; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States; Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Whitworth HB; Division of Hematology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Loomes KM; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States; Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Mayer OH; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States; Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.
Alcamo AM; Division of Critical Care Medicine, The Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA, United States; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States; Department of Anesthesiology and Critical Care Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, United States. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May 11. Date of Electronic Publication: 2021 May 11.
Typ publikacji :
Case Reports
Raport
Tytuł :
Merosin deficient congenital muscular dystrophy type 1A: An international workshop on the road to therapy 15-17 November 2019, Maastricht, the Netherlands.
Autorzy :
Smeets HJM; Department of Toxicogenomics, Research Schools GROW and MHeNS, Maastricht University, Maastricht, The Netherlands. Electronic address: .
Verbrugge B; MDC1A Foundation 'Voor Sara', Dordrecht, The Netherlands.
Springuel P; Maastricht University, The Netherlands.
Voermans NC; Department of Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
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Corporate Authors :
MDC1A Workshop Group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May 01. Date of Electronic Publication: 2021 May 01.
Typ publikacji :
Clinical Conference
Konferencja
Tytuł :
Clinical and genetic characteristics of Chinese patients with reducing body myopathy.
Autorzy :
Chen L; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Lin HX; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Yang XX; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Chen DF; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Dong HL; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Yu H; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China.
Liu GL; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China. Electronic address: .
Wu ZY; Department of Neurology and Research Center of Neurology in Second Affiliated Hospital, and Key Laboratory of Medical Neurobiology of Zhejiang Province, Zhejiang University School of Medicine, Hangzhou, China. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 442-449. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
The Spinal Muscular Atrophy Health Index: Italian validation of a disease-specific outcome measure.
Autorzy :
Sansone VA; The NEMO Clinical Center in Milan, Milan, Italy; Neurorehabilitation Unit, University of Milan, Milan, Italy. Electronic address: .
Pirola A; The NEMO Clinical Center in Milan, Milan, Italy.
Lizio A; The NEMO Clinical Center in Milan, Milan, Italy.
Greco LC; The NEMO Clinical Center in Milan, Milan, Italy.
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Casiraghi J; The NEMO Clinical Center in Milan, Milan, Italy.
Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
Italiano C; The NEMO Clinical Center in Milan, Milan, Italy.
Messina S; Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy; Nemo SUD Clinical Center, University Hospital 'G. Martino', Messina, Italy.
Pozzi S; The NEMO Clinical Center in Milan, Milan, Italy.
Sframeli M; Nemo SUD Clinical Center, University Hospital 'G. Martino', Messina, Italy.
D'Amico A; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bertini E; Department of Neurosciences, Unit of Neuromuscular and Neurodegenerative Disorders, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Bruno C; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Mauro L; The NEMO Clinical Center in Milan, Milan, Italy.
Salmin F; The NEMO Clinical Center in Milan, Milan, Italy.
Stancanelli C; Nemo SUD Clinical Center, University Hospital 'G. Martino', Messina, Italy.
Pedemonte M; Center of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Albamonte E; The NEMO Clinical Center in Milan, Milan, Italy.
Zizzi C; University of Rochester, NY, United States; Center for Health and Technology (Outcomes Division), Rochester, NY, United States.
Heatwole C; University of Rochester, NY, United States; Center for Health and Technology (Outcomes Division), Rochester, NY, United States.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
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Corporate Authors :
ISMAC group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 409-418. Date of Electronic Publication: 2021 Feb 09.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Understanding European patient expectations towards current therapeutic development in spinal muscular atrophy.
Autorzy :
Gusset N; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; SMA Schweiz, Alpenstrasse 76, CH - 3627 Heimberg, Switzerland. Electronic address: .
Stalens C; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France.
Stumpe E; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; Deutsche Gesellschaft für Muskelkranke, Im Moos 4, 79112 Freiburg, Germany.
Klouvi L; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France.
Mejat A; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France.
Ouillade MC; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; AFM Telethon, 1 rue de l'Internationale, 91002 Evry, France.
de Lemus M; SMA Europe, Im Moos 4, 79112 Freiburg, Germany; FundAME, Calle Antonio Miró Valverde, 5°G, 28055 Madrid, Spain.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 419-430. Date of Electronic Publication: 2021 Feb 04.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Filling the gaps in knowledge translation: Physical therapy recommendations for individuals with spinal muscular atrophy compared to standard of care guidelines.
Autorzy :
Trenkle J; Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States; Jessica Trenkle, LLC, United States.
Brugman J; Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States.
Peterson A; Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States.
Roback K; Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States.
Krosschell KJ; Department of Physical Therapy and Human Movement Sciences, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, United States; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, United States. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 397-408. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Late-onset camptocormia caused by a heterozygous in-frame CAPN3 deletion.
Autorzy :
Spinazzi M; Neuromuscular Reference Center, Department of Neurology, CHU d'Angers, France; Institute of Neurobiology and Neuropathology CHU d'Angers, France. Electronic address: .
Poupiot J; Genethon, 91000, Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Généthon, Integrare research unit UMR_S951, 91000, Evry-Courcouronnes, France.
Cassereau J; Neuromuscular Reference Center, Department of Neurology, CHU d'Angers, France.
Leturcq F; Laboratory of Genetics and Molecular Biology, Hôpital Cochin, Paris, France.
Brunereau L; Radiology Department, CHU de Tours, France.
Malfatti E; Neuromuscular Reference Center, Department of Neurology, Hôpital Henri-Mondor Paris, France.
Richard I; Genethon, 91000, Evry, France; Université Paris-Saclay, Univ Evry, Inserm, Généthon, Integrare research unit UMR_S951, 91000, Evry-Courcouronnes, France.
Letournel F; Institute of Neurobiology and Neuropathology CHU d'Angers, France.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 450-455. Date of Electronic Publication: 2021 Feb 14.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
A rare case of monozygotic triplets with Duchenne muscular dystrophy.
Autorzy :
Wang L; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology. Guangzhou, China.
Lin J; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology. Guangzhou, China.
Xiong F; Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Liang Y; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology. Guangzhou, China.
Li H; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology. Guangzhou, China.
Liao Z; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology. Guangzhou, China.
Zhang C; Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases, National Key Clinical Department and Key Discipline of Neurology. Guangzhou, China. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 456-461. Date of Electronic Publication: 2021 Feb 10.
Typ publikacji :
Case Reports
Raport
Tytuł :
Third case of Duchenne muscular dystrophy and West syndrome: Expanding the spectrum of the DMD neuropsychiatric phenotype.
Autorzy :
Peña-Padilla C; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.
Romero-Valenzuela I; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.
Baldomero-López A; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico.
Sandoval-Talamantes AK; Unit of Structural and Functional Genomics, Institute of Medical and Molecular Genetics, University Hospital La Paz, Madrid, Spain.
Castellanos-González A; Service of Pediatrics Neurology, Puerta de Hierro Medical Center, Zapopan, Mexico.
Nagy PL; MNG Laboratories, Cardona-Medina Salvador Milenia Labs, Atlanta, GA, United States.
Kelly RR; MNG Laboratories, Cardona-Medina Salvador Milenia Labs, Atlanta, GA, United States.
Corona-Rivera JR; Center for Registry and Research in Congenital Anomalies (CRIAC), Service of Genetics, Pediatric Division, 'Dr. Juan I. Menchaca' Civil Hospital of Guadalajara, Guadalajara, Mexico; University of Guadalajara Health Sciences University Center, Department of Molecular Biology and Genomics, 'Dr. Enrique Corona-Rivera' Institute of Human Genetics, Guadalajara, Mexico. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 462-465. Date of Electronic Publication: 2021 Feb 09.
Typ publikacji :
Case Reports
Raport
Tytuł :
Late onset Pompe Disease in India - Beyond the Caucasian phenotype.
Autorzy :
Puri RD; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India. Electronic address: .
Setia N; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
N V; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Jagadeesh S; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India.
Nampoothiri S; Department of Pediatric Genetics, Amrita Institute of Medical Sciences, Kerala, India.
Gupta N; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Muranjan M; Department of Pediatrics, King Edward Memorial Hospital, Mumbai, India.
Bhat M; Department of Clinical Genetics, Centre for Human Genetics, Bangalore, India.
Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, India.
Kabra M; Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.
Verma J; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Thomas DC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Biji I; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Raja J; Department of Clinical Genetics & Genetic Counselling, Mediscan Systems, Chennai, India.
Makkar R; Medical Director, Sanofi Genzyme, India.
Verma IC; Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi, India.
Kishnani PS; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 431-441. Date of Electronic Publication: 2021 Feb 16.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Importance of immunohistochemical evaluation of developmentally regulated myosin heavy chains in human muscle biopsies.
Autorzy :
Sewry CA; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; Department of Musculoskeletal Histopathology and the Wolfson Centre for Inherited Neuromuscular Diseases, RJAH Orthopaedic Hospital NHS Trust, Oswestry, SY10 7AG, United Kingdom; Department of Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance NHS Group, Stott Lane, Salford M6 8HD, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom. Electronic address: .
Feng L; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom.
Chambers D; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom; The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health 30 Guildford Street, London, WC1N 1EH, United Kingdom.
Matthews E; Atkinson-Morley Neuromuscular Centre, Department of Neurology, St George's University Hospitals NHS Foundation Trust, London, SW17 0QT, United Kingdom; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.
Phadke R; The Dubowitz Neuromuscular Centre, UCL Queen Square Institute of Neurology Division of Neuropathology & National Hospital for Neurology and Neurosurgery, London WC1N 3BG, United Kingdom; The Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children NHS Foundation Trust, London WC1N 3JH, United Kingdom; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 371-384. Date of Electronic Publication: 2021 Feb 12.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Disease-modifying effects of edasalonexent, an NF-κB inhibitor, in young boys with Duchenne muscular dystrophy: Results of the MoveDMD phase 2 and open label extension trial.
Autorzy :
Finkel RS; St. Jude Children's Research Hospital, Memphis, TN and Nemours Children's Hospital, Orlando, FL, United States. Electronic address: .
Finanger E; Oregon Health & Science University, Portland, OR, United States.
Vandenborne K; University of Florida Health, Gainesville, FL, United States.
Sweeney HL; University of Florida Health, Gainesville, FL, United States.
Tennekoon G; The Children's Hospital of Philadelphia, and the University of Pennsylvania, Philadelphia, PA, United States.
Shieh PB; University of California, Los Angeles, Los Angeles, CA, United States.
Willcocks R; University of Florida Health, Gainesville, FL, United States.
Walter G; University of Florida Health, Gainesville, FL, United States.
Rooney WD; Oregon Health & Science University, Portland, OR, United States.
Forbes SC; University of Florida Health, Gainesville, FL, United States.
Triplett WT; University of Florida Health, Gainesville, FL, United States.
Yum SW; The Children's Hospital of Philadelphia, and the University of Pennsylvania, Philadelphia, PA, United States.
Mancini M; Catabasis Pharmaceuticals, Inc., Boston, MA, United States.
MacDougall J; Catabasis Pharmaceuticals, Inc., Boston, MA, United States.
Fretzen A; Catabasis Pharmaceuticals, Inc., Boston, MA, United States.
Bista P; Catabasis Pharmaceuticals, Inc., Boston, MA, United States.
Nichols A; Catabasis Pharmaceuticals, Inc., Boston, MA, United States.
Donovan JM; Catabasis Pharmaceuticals, Inc., Boston, MA, United States.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 385-396. Date of Electronic Publication: 2021 Feb 04.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
251st ENMC international workshop: Polyglucosan storage myopathies 13-15 December 2019, Hoofddorp, the Netherlands.
Autorzy :
Laforêt P; Neurology Unit, Raymond Poincaré Hospital, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Oldfors A; Department of Laboratory Medicine, Sahlgrenska University Hospital, Institute of Biomedicine, University of Gothenburg, Sweden. Electronic address: .
Malfatti E; Neuromuscular Reference Center, Henri Mondor University Hospital, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
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Corporate Authors :
ENMC 251st workshop study group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 May; Vol. 31 (5), pp. 466-477. Date of Electronic Publication: 2021 Jan 23.
Typ publikacji :
Clinical Conference
Konferencja
Tytuł :
Marked reduction in paralytic attacks in a patient with Andersen-Tawil syndrome switched from acetazolamide to dichlorphenamide.
Autorzy :
Gupta A; Department of Neurology, Ohio State University Wexner Medical Center, 395W 12th Ave, 7th Floor, Columbus, OH 43210, United States.
Iyadurai S; Department of Neurology, Ohio State University Wexner Medical Center, 395W 12th Ave, 7th Floor, Columbus, OH 43210, United States; Institute for Brain Protection Sciences, Johns Hopkins All Children's Hospital, 501 6th Avenue South, St. Petersburg, FL 33701, United States; Catalyst Pharmaceuticals, Inc., 355 Alhambra Circle, Suite 1250, Coral Gables, FL 33134, United States.
Roggenbuck J; Department of Neurology, Ohio State University Wexner Medical Center, 395W 12th Ave, 7th Floor, Columbus, OH 43210, United States.
LoRusso S; Department of Neurology, Ohio State University Wexner Medical Center, 395W 12th Ave, 7th Floor, Columbus, OH 43210, United States. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr 24. Date of Electronic Publication: 2021 Apr 24.
Typ publikacji :
Case Reports
Raport
Tytuł :
Newborn screening programs for spinal muscular atrophy worldwide: Where we stand and where to go.
Autorzy :
Dangouloff T; Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Liège & University of Liège, CRMN Liège, CHR de la Citadelle, Boulevard du 12ème de Ligne, 4000 Liège, Belgium.
Vrščaj E; Department of Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1525 Ljubljana, Slovenia.
Servais L; Division of Child Neurology, Reference Center for Neuromuscular Diseases, Department of Pediatrics, University Hospital Liège & University of Liège, CRMN Liège, CHR de la Citadelle, Boulevard du 12ème de Ligne, 4000 Liège, Belgium; MDUK Neuromuscular Centre, Department of Paediatrics, University of Oxford, United Kingdom. Electronic address: .
Osredkar D; Department of Pediatric Neurology, University Children's Hospital, University Medical Centre Ljubljana, Bohoričeva 20, 1525 Ljubljana, Slovenia; Medical Faculty, University of Ljubljana, Slovenia. Electronic address: .
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Corporate Authors :
SMA NBS World Study Group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr 07. Date of Electronic Publication: 2021 Apr 07.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
COVID-19 in advanced Duchenne/Becker muscular dystrophy patients.
Autorzy :
Levine H; Pulmonary Institute, Schneider Children's Medical Center, Petah-Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel. Electronic address: .
Prais D; Pulmonary Institute, Schneider Children's Medical Center, Petah-Tikva 49100, Israel; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel.
Aharoni S; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel; Neurology Institute, Schneider Children's Medical Center, Petah-Tikva, Israel.
Nevo Y; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel; Neurology Institute, Schneider Children's Medical Center, Petah-Tikva, Israel.
Katz J; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel.
Rahmani E; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel; Department of Pediatrics B, Schneider Children's Medical Center, Petah-Tikva, Israel.
Goldberg L; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel; Department of Pediatrics B, Schneider Children's Medical Center, Petah-Tikva, Israel.
Scheuerman O; Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Tel Aviv, Israel; Department of Pediatrics B, Schneider Children's Medical Center, Petah-Tikva, Israel; Pediatric Infectious Disease Unit, Schneider Children's Medical Center.
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr 06. Date of Electronic Publication: 2021 Apr 06.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Age related treatment effect in type II Spinal Muscular Atrophy pediatric patients treated with nusinersen.
Autorzy :
Coratti G; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pane M; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Lucibello S; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pera MC; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Pasternak A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Montes J; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, USA; Departments of Rehabilitation and Regenerative Medicine and Neurology, Columbia University Irving Medical Center, New York, USA.
Sansone VA; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, USA.
Duong T; Department of Neurology, Stanford University, Stanford, California, USA.
Dunaway Young S; Department of Neurology, Stanford University, Stanford, California, USA.
Messina S; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
D'Amico A; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Civitello M; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA.
Glanzman AM; Department of Physical Therapy, The Children's Hospital of Philadelphia, Philadelphia, USA.
Bruno C; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Salmin F; Neurorehabilitation Unit, University of Milan, Neuromuscular Omnicentre Clinical Center, Niguarda Hospital, Milan, USA.
Tacchetti P; Center of Experimental and Translational Myology, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Carnicella S; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Sframeli M; Department of Clinical and Experimental Medicine and Centro Clinico Nemo Sud, University of Messina, Messina, Italy.
Antonaci L; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Frongia AL; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy.
De Vivo DC; Departments of Neurology and Pediatrics, Columbia University Irving Medical Center, New York, USA.
Darras BT; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
Day J; Department of Neurology, Stanford University, Stanford, California, USA.
Bertini E; Unit of Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, IRCCS Bambino Gesù Children's Hospital, Rome, Italy.
Muntoni F; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom; Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital, London, United Kingdom.
Finkel R; Nemours Children's Hospital, University of Central Florida College of Medicine, Orlando, USA; St. Jude Children's Research Hospital, Memphis, USA.
Mercuri E; Pediatric Neurology, Università Cattolica del Sacro Cuore, Rome, Italy; Centro Clinico Nemo, Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy. Electronic address: .
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Corporate Authors :
iSMAC group
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr 02. Date of Electronic Publication: 2021 Apr 02.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Myasthenia gravis with inflammatory myopathy without elevation of creatine kinase.
Autorzy :
Kanbayashi T; Department of Neurology, Teikyo University School of Medicine, Kaga 2-11-1, Itabashi-ku 1738605, Tokyo, Japan. Electronic address: .
Tanaka S; Department of Neurology, Teikyo University School of Medicine, Kaga 2-11-1, Itabashi-ku 1738605, Tokyo, Japan.
Hatanaka Y; Department of Neurology, Teikyo University School of Medicine, Kaga 2-11-1, Itabashi-ku 1738605, Tokyo, Japan. Electronic address: .
Uchio N; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku 1138655, Tokyo, Japan. Electronic address: .
Shimizu J; Department of Neurology, Graduate School of Medicine, University of Tokyo, 7-3-1 Hongo, Bunkyo-ku 1138655, Tokyo, Japan; Department of Physical Therapy, School of Health Science, Tokyo University of Technology, Nishikamata 5-23-22, Ota-ku 1448535, Tokyo, Japan. Electronic address: .
Sonoo M; Department of Neurology, Teikyo University School of Medicine, Kaga 2-11-1, Itabashi-ku 1738605, Tokyo, Japan. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr 01. Date of Electronic Publication: 2021 Apr 01.
Typ publikacji :
Case Reports
Raport
Tytuł :
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease.
Autorzy :
Moore U; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom.
Gordish H; Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States; Pediatrics, Epidemiology and Biostatistics, George Washington University, Washington, DC, United States.
Diaz-Manera J; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Barcelona, Spain; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu i Sant Pau.
James MK; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom.
Mayhew AG; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom.
Guglieri M; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom.
Fernandez-Torron R; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom.
Rufibach LE; The Jain Foundation, Seattle, Washington DC, United States.
Feng J; Center for Translational Science, Division of Biostatistics and Study Methodology, Children's National Health System, Washington, DC, United States.
Blamire AM; Magnetic Resonance Centre, Translational and Clinical Research Institute, Newcastle University, United Kingdom.
Carlier PG; AIM & CEA NMR Laboratory, Institute of Myology, Pitié-Salpêtrière University Hospital, 47-83 Paris, France.
Spuler S; Charite Muscle Research Unit, Experimental and Clinical Research Center, a Joint Cooperation of the Charité Medical Faculty and the Max Delbrück Center for Molecular Medicine, Berlin, Germany.
Day JW; Department of Neurology and Neurological Sciences, Stanford University School of Medicine, Stanford, CA, United States.
Jones KJ; The Children's Hospital at Westmead, and The University of Sydney, Australia.
Bharucha-Goebel DX; Department of Neurology Children's National Health System, Washington, DC, United States; National Institutes of Health (NINDS), Bethesda, MD, United States.
Salort-Campana E; Service des maladies neuromusculaire et de la SLA, Hôpital de La Timone, Marseille, France.
Pestronk A; Department of Neurology Washington University School of Medicine, St. Louis, MO, United States.
Walter MC; Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University of Munich, Germany.
Paradas C; Neuromuscular Unit, Department of Neurology, Hospital U. Virgen del Rocío/Instituto de Biomedicina de Sevilla, Sevilla, Spain.
Stojkovic T; Centre de référence des maladies neuromusculaires, Institut de Myologie, AP-HP, Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France.
Mori-Yoshimura M; Department of Neurology, National Center Hospital, National Center of Neurology and Psychiatry Tokyo, Japan.
Bravver E; Neuroscience Institute, Carolinas Neuromuscular/ALS-MDA Center, Carolinas HealthCare System, Charlotte, NC, United States.
Pegoraro E; Department of Neuroscience, University of Padova, Italy.
Lowes LP; The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH United States.
Mendell JR; The Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH United States.
Bushby K; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom.
Straub V; The John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Central Parkway, Newcastle upon Tyne, United Kingdom. Electronic address: .
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Corporate Authors :
Jain COS Consortium
Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr; Vol. 31 (4), pp. 265-280. Date of Electronic Publication: 2021 Jan 21.
Typ publikacji :
Journal Article
Czasopismo naukowe
Tytuł :
Population pharmacokinetics-based recommendations for a single delayed or missed dose of nusinersen.
Autorzy :
MacCannell D; Biogen, Cambridge, MA, USA.
Berger Z; Biogen, Cambridge, MA, USA.
East L; Biogen, Cambridge, MA, USA.
Mercuri E; Department of Pediatric Neurology, Catholic University, Rome, Italy.
Kirschner J; Department of Neuropediatrics, University Hospital Bonn, Bonn, Germany.
Muntoni F; Dubowitz Neuromuscular Centre, NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Farrar MA; Department of Neurology, Sydney Children's Hospital and School of Women's and Children's Health, UNSW Medicine, Sydney, New South Wales, Australia.
Peng J; Nuventra Pharma Sciences, Research Triangle Park, NC, USA.
Zhou J; Nuventra Pharma Sciences, Research Triangle Park, NC, USA.
Nestorov I; Biogen, Cambridge, MA, USA.
Farwell W; Biogen, Cambridge, MA, USA.
Finkel RS; Center for Experimental Neurotherapeutics, St. Jude Children's Research Hospital, Memphis, TN, USA. Electronic address: .
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Źródło :
Neuromuscular disorders : NMD [Neuromuscul Disord] 2021 Apr; Vol. 31 (4), pp. 310-318. Date of Electronic Publication: 2021 Feb 20.
Typ publikacji :
Journal Article
Czasopismo naukowe

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