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Tytuł:
Corrigendum to "NMNAT1 and hereditary spastic paraplegia (HSP): Expanding the phenotypic spectrum of NMNAT1 variants" [Neuromuscular Disorders, 33(2023) 295-301].
Autorzy:
Sadr Z; Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Ghasemi A; Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Rohani M; Department of Neurology, Iran University of Medical Sciences, Hazrat Rasool Hospital, Tehran, Iran.
Alavi A; Genetics research center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Dec 02. Date of Electronic Publication: 2023 Dec 02.
Typ publikacji:
Published Erratum
Szczegóły
Tytuł:
In Memoriam: Dr Martin S Schwartz MD (Baltimore) FRCP (London) 1941-2023.
Autorzy:
Swash M; Professor of Neurology, Institute of Neuroscience, University of Lisbon, Portugal; Emeritus Professor of Neurology, Barts & the London School of Medicine & Dentistry, QMUL, London, United Kingdom; Hon Consultant Neurologist, Royal London Hospital, London, United Kingdom. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov 13. Date of Electronic Publication: 2023 Nov 13.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Fatigue and associated factors in 172 patients with McArdle disease: An international web-based survey.
Autorzy:
Slipsager A; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Andersen LK; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark.
Voermans NC; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands.
Lucia A; Physical Activity Health Research Group (PaHerg), Research Institute of Hospital 12 de Octubre ('i+12'). Madrid, Spain; Faculty of Sport Sciences, Universidad Europea de Madrid, Madrid, Spain.
Karazi W; The Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen Medical Centre, The Netherlands.
Santalla A; Universidad Pablo de Olavide, Seville, Spain.
Vissing J; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark.
Løkken N; Copenhagen Neuromuscular Center, Department of Neurology, Copenhagen University Hospital - Rigshospitalet, Copenhagen, Denmark; Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov 11. Date of Electronic Publication: 2023 Nov 11.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
A new family with a case of severe early-onset muscle fatigue and a peculiar maternally inherited painful swelling in chewing muscles associated with homoplasmic m.15992A>T mutation in mitochondrial tRNA .
Autorzy:
Ghirigato E; University of Trieste, Italy.
Terenzi F; University of Trieste, Italy.
Baglivo M; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Zanetti N; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
Baldo F; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy. Electronic address: .
Murru FM; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Bobbo M; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Barbi E; University of Trieste, Italy; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Zeviani M; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Bruno I; Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy.
Lamantea E; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov 04. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
The Dutch registry for facioscapulohumeral muscular dystrophy: Cohort profile and longitudinal patient reported outcomes.
Autorzy:
Kools J; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Deenen JC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
Blokhuis AM; Sint Maartenskliniek, Department of Rehabilitation, Nijmegen, The Netherlands.
Verbeek AL; Department for Health Evidence, Radboud university medical center, Nijmegen, The Netherlands.
Voermans NC; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands. Electronic address: .
van Engelen BG; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud university medical center, Nijmegen, The Netherlands.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov 04. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
The personal financial burden associated with idiopathic inflammatory myopathies.
Autorzy:
Hua C; Department of Orthopaedics, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA. Electronic address: catherine_.
Bhashyam AR; Department of Orthopaedics, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA; Myositis Support and Understanding, Lincoln, DE, USA.
Lubinus M; Myositis Support and Understanding, Lincoln, DE, USA.
Wilson L; Myositis Support and Understanding, Lincoln, DE, USA.
Bhai S; Myositis Support and Understanding, Lincoln, DE, USA; Department of Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA; Neuromuscular Center, Institute for Exercise and Environmental Medicine, Texas Health Presbyterian, Dallas, TX, USA.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov 04. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Functional characterization of RYR1 variants identified in malignant hyperthermia susceptible individuals.
Autorzy:
Noda Y; Departments of Biomedicine and Neurology, Basel University Hospital, Hebelstrasse 20, Basel 4031, Switzerland; Department of Anesthesiology, Hiroshima University Hospital, 1-2-3 Kasumi Minami-ku Hiroshima, 734-8551, Japan.
Miyoshi H; Department of Anesthesiology, Hiroshima University Hospital, 1-2-3 Kasumi Minami-ku Hiroshima, 734-8551, Japan.
Benucci S; Departments of Biomedicine and Neurology, Basel University Hospital, Hebelstrasse 20, Basel 4031, Switzerland.
Gonzalez A; Anesthesiology, Spitalstrasse 21, Basel 4031, Switzerland.
Bandschapp O; Anesthesiology, Spitalstrasse 21, Basel 4031, Switzerland.
Girard T; Anesthesiology, Spitalstrasse 21, Basel 4031, Switzerland.
Treves S; Departments of Biomedicine and Neurology, Basel University Hospital, Hebelstrasse 20, Basel 4031, Switzerland; Department of Life Science and Biotechnology, University of Ferrara, Via Borsari 46, Ferrara 44100, Italy. Electronic address: .
Zorzato F; Departments of Biomedicine and Neurology, Basel University Hospital, Hebelstrasse 20, Basel 4031, Switzerland; Department of Life Science and Biotechnology, University of Ferrara, Via Borsari 46, Ferrara 44100, Italy. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov 03. Date of Electronic Publication: 2023 Nov 03.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Meeting report: The 2023 FSHD International Research Congress.
Autorzy:
Arjomand J; FSHD Society, 75 North Main Street, Suite 1073, Randolph, MA 02368 USA.
Gabellini D; Division of Genetics and Cell Biology, IRCCS Ospedale San Raffaele, Milano 20132, Italy.
Voermans N; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands. Electronic address: .
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Corporate Authors:
2023 FSHD International Research Congress Program Committee
Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov 02. Date of Electronic Publication: 2023 Nov 02.
Typ publikacji:
Clinical Conference
Konferencja
Szczegóły
Tytuł:
A systematic literature review and meta-analysis of the effectiveness of vitamin D supplementation for patients with Duchenne muscular dystrophy.
Autorzy:
Guo J; Nutritional Epidemiology Group, School of Food Science and Nutrition, University of Leeds, Leeds LS2 9JT, United Kingdom.
Anthony K; Centre for Physical Activity and Life Sciences, University of Northampton, University Drive, Northampton NN1 5PH, United Kingdom. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 835-844. Date of Electronic Publication: 2023 Oct 16.
Typ publikacji:
Systematic Review; Meta-Analysis; Journal Article; Review
MeSH Terms:
Muscular Dystrophy, Duchenne*/drug therapy
Humans ; Retrospective Studies ; Prospective Studies ; Cross-Sectional Studies ; Vitamin D/therapeutic use ; Vitamins ; Dietary Supplements
Czasopismo naukowe
Szczegóły
Tytuł:
The impact of clinical trial participation on quality of life and psychosocial well-being in children with Duchenne muscular dystrophy and their parents.
Autorzy:
Geuens S; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium; KU Leuven, Department of Development and Regeneration, Leuven, Belgium. Electronic address: .
Willen J; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium.
Antonis C; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium.
Stegen G; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium.
Gielis E; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium.
Cuveele E; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium.
Goemans N; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium; KU Leuven, Department of Development and Regeneration, Leuven, Belgium.
Lemiere J; University Hospitals Leuven, Pediatric Hemato-Oncology, Belgium; KU Leuven, Department Oncology, Pediatric Oncology, Belgium.
De Waele L; University Hospitals Leuven, Department of Child Neurology, Leuven, Belgium; KU Leuven, Department of Development and Regeneration, Leuven, Belgium.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 877-881. Date of Electronic Publication: 2023 Oct 20.
Typ publikacji:
Journal Article
MeSH Terms:
Quality of Life*/psychology
Muscular Dystrophy, Duchenne*/therapy
Muscular Dystrophy, Duchenne*/psychology
Male ; Female ; Humans ; Child ; Parents/psychology ; Surveys and Questionnaires ; Mothers
Czasopismo naukowe
Szczegóły
Tytuł:
269th ENMC international workshop: 10 years of clinical trials in Duchenne muscular dystrophy - What have we learned? 9-11 December 2022, Hoofddorp, The Netherlands.
Autorzy:
Naarding KJ; Department of Neurology, Leiden University Medical Center, Leiden, the Netherlands; Duchenne Center Netherlands, the Netherlands.
Stimpson G; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, London, UK.
Ward SJ; Collaborative Trajectory Analysis Project (cTAP), United States.
Goemans N; University Hospitals Leuven, Dept of Child Neurology, Leuven, Belgium.
McDonald C; Department of Physical Medicine and Rehabilitation in Sacramento, University of California, Davis, CA, United States.
Mercuri E; Pediatric Neurology Unit, Catholic University, Rome, Italy; Centro Clinico Nemo, U.O.C. Neuropsichiatria Infantile Fondazione Policlinico Universitario Agostino Gemelli IRCCS, Rome, Italy.
Muntoni F; UCL Great Ormond Street Institute of Child Health, Dubowitz Neuromuscular Centre, London, UK; National Institute for Health Research Great Ormond Street Hospital Biomedical Research Centre, London, UK. Electronic address: .
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Corporate Authors:
269th ENMC workshop participants
Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 897-910. Date of Electronic Publication: 2023 Oct 11.
Typ publikacji:
Clinical Conference
MeSH Terms:
Muscular Dystrophy, Duchenne*/drug therapy
Humans ; Netherlands
Konferencja
Szczegóły
Tytuł:
Josef Godwin Greenfield as a myopathologist and his myopathological legacy.
Autorzy:
Goebel HH; Department of Neuropathology, Charité - Universitätsmedizin, Berlin, Germany; Department of Neuropathology, Universitätsmedizin, Mainz, Germany. Electronic address: .
Stenzel W; Department of Neuropathology, Charité - Universitätsmedizin, Berlin, Germany.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 882-883. Date of Electronic Publication: 2023 Sep 30.
Typ publikacji:
Journal Article
Czasopismo naukowe
Szczegóły
Tytuł:
Emerging and established biomarkers of oculopharyngeal muscular dystrophy.
Autorzy:
Smith IC; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada.
Chakraborty S; Faculty of Science, University of Ottawa, Ottawa, ON K1N 9B4, Canada.
Bourque PR; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada.
Sampaio ML; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Department of Medical Imaging, The Ottawa Hospital, Ottawa, Ontario K1Y 4E9, Canada; Department of Radiology, Radiation Oncology and Medical Physics, University of Ottawa, Ottawa, ON K1H 8L6, Canada.
Melkus G; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Department of Medical Imaging, The Ottawa Hospital, Ottawa, Ontario K1Y 4E9, Canada; Department of Physics, Carleton University, Ottawa, ON K1S 5B6, Canada.
Lochmüller H; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada.
Woulfe J; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Ottawa, ON K1Y 4E9, Canada.
Parks RJ; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada.
Brais B; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada.
Warman-Chardon J; The Ottawa Hospital Research Institute, Ottawa, ON K1Y 4E9, Canada; Faculty of Medicine, University of Ottawa, Ottawa, ON K1H 8M5, Canada; Department of Medicine, The Ottawa Hospital/University of Ottawa, Ottawa, ON K1H 8L6, Canada; Eric Poulin Centre for Neuromuscular Disease, University of Ottawa, Ottawa, ON K1Y 4E9, Canada; Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada; Montreal Neurological Institute and Hospital, McGill University, Montreal, Quebec H3A 2B4, Canada. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 824-834. Date of Electronic Publication: 2023 Oct 06.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Muscular Dystrophy, Oculopharyngeal*/genetics
Deglutition Disorders*
Blepharoptosis*/genetics
Humans ; Biomarkers ; Genetic Testing
Czasopismo naukowe
Szczegóły
Tytuł:
Introducing the Dysphagiameter: a novel patient-reported outcome measure for evaluating dysphagia in oculopharyngeal muscular dystrophy - from conceptual framework to initial development.
Autorzy:
Côté C; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001, 12e avenue Nord, Sherbrooke (Québec) J1H 5N4, Canada; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Clinique des maladies neuromusculaires, Hôpital de Jonquière, 2230, rue de l'Hôpital, 7e étage, Jonquière (Québec) G7X 7X2, Canada. Electronic address: .
Brais B; Department of Neurology and Neurosurgery, Faculty of Medicine and Health Sciences, McGill University, 845, rue Sherbrooke O, Montréal (Québec) H3A OG4, Canada; Rare Neurological Diseases Research Group, The Neuro (Montreal Neurological Institute-Hospital), 3801, rue University, Montréal (Québec) H3A 2B4, Canada.
Sèbiyo Batcho C; Centre interdisciplinaire de recherche en réadaptation et intégration sociale (CIRRIS), Institut de réadaptation en déficience de Québec, 525, boul Wilfrid-Hamel, Québec (Québec) G1M 2S8, Canada; Département de réadaptation, Faculté de médecine, Université Laval, Pavillon Ferdinand-Vandry, 1050, rue de la Médecine, Québec (Québec) G1V 0A6, Canada.
Brisson JD; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001, 12e avenue Nord, Sherbrooke (Québec) J1H 5N4, Canada; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Clinique des maladies neuromusculaires, Hôpital de Jonquière, 2230, rue de l'Hôpital, 7e étage, Jonquière (Québec) G7X 7X2, Canada.
Youssof S; Department of Neurology, Health Sciences, The University of New Mexico, MSC10 5620, 1 University of New Mexico, Albuquerque, NM 87131, USA.
Allegue DR; School of Physical and Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, 845, rue Sherbrooke O, Montréal (Québec) H3A 0G4, Canada; Centre for Interdisciplinary Research in Rehabilitation of Greater Montreal, Institut universitaire sur la réadaptation en déficience physique de Montréal, Pavillon Lindsay, 6363, chemin Hudson, 5e étage, Montréal (Québec) H3S 1M9, Canada.
Gagnon C; Faculté de médecine et des sciences de la santé, Université de Sherbrooke, 3001, 12e avenue Nord, Sherbrooke (Québec) J1H 5N4, Canada; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN), Clinique des maladies neuromusculaires, Hôpital de Jonquière, 2230, rue de l'Hôpital, 7e étage, Jonquière (Québec) G7X 7X2, Canada.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 856-865. Date of Electronic Publication: 2023 Sep 26.
Typ publikacji:
Systematic Review; Journal Article
MeSH Terms:
Deglutition Disorders*/etiology
Deglutition Disorders*/complications
Muscular Dystrophy, Oculopharyngeal*/complications
Muscular Dystrophy, Oculopharyngeal*/diagnosis
Humans ; Surveys and Questionnaires ; Patient Reported Outcome Measures ; Psychometrics
Czasopismo naukowe
Szczegóły
Tytuł:
261st ENMC International Workshop: Management of safety issues arising following AAV gene therapy. 17th-19th June 2022, Hoofddorp, The Netherlands.
Autorzy:
Servais L; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK; Division of Child Neurology, Centre de Référence des Maladies Neuromusculaires, Department of Pediatrics, University Hospital Liège and University of Liège, Avenue de l'Hôpital 1 4000 Liege, Belgium. Electronic address: .
Horton R; MDUK Oxford Neuromuscular Centre & NIHR Oxford Biomedical Research Centre, University of Oxford, Oxford, UK.
Saade D; Department of Neurology, University of Iowa Carver College of Medicine, Iowa City, IA, USA.
Bonnemann C; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
Muntoni F; UCL Great Ormond Street Institute of Child Health, The Dubowitz Neuromuscular Centre, London, UK; National Institute for Health Research, Great Ormond Street Institute of Child Health Biomedical Research Centre, University College London, London, UK.
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Corporate Authors:
261st ENMC workshop study group
Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 884-896. Date of Electronic Publication: 2023 Oct 01.
Typ publikacji:
Clinical Conference
MeSH Terms:
Muscular Dystrophy, Duchenne*/genetics
Neuromuscular Diseases*/therapy
Humans ; Netherlands ; Dependovirus/genetics ; Genetic Therapy/adverse effects
Konferencja
Szczegóły
Tytuł:
Life-threatening bowel complications in adults with Duchenne muscular dystrophy: a case series.
Autorzy:
Nart L; Neuromuscular Complex Care Centre, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom. Electronic address: .
Desikan M; Neuromuscular Complex Care Centre, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
Emmanuel A; Gastrointestinal Physiology Unit, University College London Hospitals, London, United Kingdom.
Quinlivan R; Neuromuscular Complex Care Centre, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Gastrointestinal Physiology Unit, University College London Hospitals, London, United Kingdom; MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, United Kingdom.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 873-876. Date of Electronic Publication: 2023 Oct 13.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Dystrophy, Duchenne*/complications
Muscular Dystrophy, Duchenne*/therapy
Muscular Dystrophy, Duchenne*/pathology
Humans ; Adult ; Aged ; Muscular Atrophy
Czasopismo naukowe
Szczegóły
Tytuł:
Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.
Autorzy:
Famili DT; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom.
Fernandez-Garcia MA; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom.
Vanegas M; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom.
Goldberg MF; The RYR-1 Foundation, Pittsburgh, PA, USA.
Voermans N; Department of Neurology, Radboud University Medical Centre, Nijmegen, the Netherlands.
Quinlivan R; MRC Centre for Neuromuscular Diseases, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Jungbluth H; Department of Paediatric Neurology, Neuromuscular Service, Evelina's Children Hospital, Guy's & St. Thomas' Hospital NHS Foundation Trust, London, United Kingdom; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, United Kingdom. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 866-872. Date of Electronic Publication: 2023 Sep 27.
Typ publikacji:
Journal Article
MeSH Terms:
Glycogen Storage Disease Type V*/diagnosis
Compartment Syndromes*/etiology
Compartment Syndromes*/genetics
Neuromuscular Diseases*/diagnosis
Neuromuscular Diseases*/genetics
Neuromuscular Diseases*/complications
Fibromyalgia*/complications
Humans ; Ryanodine Receptor Calcium Release Channel/genetics
Czasopismo naukowe
Szczegóły
Tytuł:
Smartphone measures motor and respiratory function in spinal muscular atrophy.
Autorzy:
Topaloğlu H; Department of Pediatrics, Yeditepe School of Medicine, Istanbul, Turkey. Electronic address: .
Coşkun AN; Department of Child Neurology, Atatürk Sanatory Education and Research Hospital, Ankara, Turkey.
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 823. Date of Electronic Publication: 2023 Sep 22.
Typ publikacji:
Editorial
MeSH Terms:
Muscular Atrophy, Spinal*
Spinal Muscular Atrophies of Childhood*/diagnosis
Child ; Humans ; Smartphone ; Upper Extremity ; Respiration ; Outcome Assessment, Health Care
Opinia redakcyjna
Szczegóły
Tytuł:
Digital measures of respiratory and upper limb function in spinal muscular atrophy: design, feasibility, reliability, and preliminary validity of a smartphone sensor-based assessment suite.
Autorzy:
Perumal TM; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland. Electronic address: thanneer_.
Wolf D; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Berchtold D; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Pointeau G; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Zhang YP; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Cheng WY; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Lipsmeier F; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Sprengel J; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Czech C; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
Chiriboga CA; Department of Neurology, Columbia University, New York, NY, United States.
Lindemann M; F. Hoffmann-La Roche Ltd, Roche Innovation Center Basel, Grenzacherstrasse 124, Basel 4070, Switzerland.
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Corporate Authors:
JEWELFISH Working Group
Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Nov; Vol. 33 (11), pp. 845-855. Date of Electronic Publication: 2023 Aug 25.
Typ publikacji:
Journal Article
MeSH Terms:
Muscular Atrophy, Spinal*
Spinal Muscular Atrophies of Childhood*/complications
Humans ; Reproducibility of Results ; Smartphone ; Feasibility Studies ; Cross-Sectional Studies ; Upper Extremity
Czasopismo naukowe
Szczegóły
Tytuł:
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Autorzy:
Bermejo-Guerrero L; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
de Fuenmayor Fernández-de la Hoz CP; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
González-Quereda L; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Genetics and Microbiology Department, Universitat Autonoma de Barcelona, Bellaterra, Spain.
Segarra-Casas A; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Genetics and Microbiology Department, Universitat Autonoma de Barcelona, Bellaterra, Spain.
Nedkova V; Department of Neurology, Bellvitge Hospital, 08041 Barcelona, Spain.
Gallano P; Genetics Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.
Martín-Jiménez P; Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Hernández-Laín A; Department of Neuropathology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Olivé M; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Neuromuscular Diseases Unit, Neurology Department, Institut d'Investigació Biomèdica Sant Pau (IIB SANT PAU), Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
Arteche-López A; Department of Genetics, 12 de Octubre University Hospital, 28041 Madrid, Spain.
Domínguez-González C; Neuromuscular Disorders Unit, Department of Neurology, Hospital Universitario 12 de Octubre, Madrid, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Mitochondrial and Neuromuscular Disorders Group, Hospital 12 de Octubre Health Research Institute (imas12), Madrid, Spain. Electronic address: .
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Źródło:
Neuromuscular disorders : NMD [Neuromuscul Disord] 2023 Oct 30. Date of Electronic Publication: 2023 Oct 30.
Typ publikacji:
Case Reports
Raport
Szczegóły
Wyświetlanie 1-20 z 3928

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