نتائج البحث - "Peter Van den Bergh"

1

Impact of Very Early Physical Therapy During Septic Shock on Skeletal Muscle

المؤلفون: Louise Deldicque, Cheryl Elizabeth Hickmann, Pierre-François Laterre, Marc Francaux, Jean Roeseler, Diego Castanares-Zapatero, Peter Van den Bergh, Gilles Caty, Annie Robert

المصدر: Critical Care Medicine

مصطلحات موضوعية: muscle atrophy, Male, autophagy, early mobilization, medicine.medical_specialty, critically ill, Catabolic state, Clinical Investigations, Critical Care and Intensive Care Medicine, Muscle mass, law.invention, 03 medical and health sciences, 0302 clinical medicine, Randomized controlled trial, law, Secondary Prevention, medicine, Humans, Muscle, Skeletal, Physical Therapy Modalities, Secondary prevention, business.industry, Septic shock, catabolism, Skeletal muscle, 030208 emergency & critical care medicine, Middle Aged, medicine.disease, Shock, Septic, medicine.anatomical_structure, 030228 respiratory system, Shock (circulatory), ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Physical therapy, septic shock, Female, medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ffa5b41e45a01e22968412e6a7c9c1aTest
https://doi.org/10.1097/ccm.0000000000003263Test

2

Making sense of missense variants in TTN-related congenital myopathies

المؤلفون: Anna Sarkozy, Erik-Jan Kamsteeg, Mark Pfuhl, Nicol C. Voermans, Martin Rees, Corrie E. Erasmus, Hülya-Sevcan Daimagüler, Steven A. Moore, Rahul Phadke, Mark R. Holt, Rolf Schröder, Istvan Bodi, Carla Grosmann, Sebahattin Cirak, E. Matthews, Ay Lin Kho, Peter Van den Bergh, Christian Thiel, Shane McKee, Joel Victor Fluss, Roksana Nikoopour, Charu Deshpande, Jens Reimann, Emily C. Oates, Maria Elena Farrugia, Özkan Özdemir, Isabelle Richard, Cristina Domínguez-González, Chaminda Konersman, Ekkehard Wilichowski, Birgit Brandmeier, Atsushi Fukuzawa, Ana Ferreiro, Heinz Jungbluth, Ros Quinlivan, Sandya Tirupathi, Mathias Gautel, Gabriele Dekomien, Cheryl Longman, Miguel A Fernandez-Garcia, Francesco Muntoni, Michael G. Hanna, Elizabeth Wraige, Elke Hobbiebrunken, Sarah Grover

المساهمون: UCL - SSS/IONS - Institute of NeuroScience, UCL - (SLuc) Service de neurologie, UCL - (SLuc) Centre de référence neuromusculaire, King‘s College London, Evelina London Children's Hospital, Guy's Hospital [London], University of Cologne, Children’s University Hospital of Geneva [Switzerland], Queen Elizabeth University Hospital (Glasgow), National Hospital for Neurology and Neurosurgery [London, UK], Great Ormond Street Hospital for Children [London] (GOSH), University College of London [London] (UCL), University of New South Wales [Sydney] (UNSW), Westmead Hospital [Sydney], University Hospital Erlangen [Germany], Universitätsklinikum Erlangen [Erlangen], University of Bonn Medical Centre [Bonn], Radboud university [Nijmegen], Rady Children's Hospital, Belfast City Hospital, Royal Belfast Hospital for Sick Children, University of Iowa [Iowa City], University of Göttingen - Georg-August-Universität Göttingen, Approches génétiques intégrées et nouvelles thérapies pour les maladies rares (INTEGRARE), Université d'Évry-Val-d'Essonne (UEVE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay-Généthon, Généthon, Saint-Luc University Hospital [Brussels, Belgium], Hospital Universitario 12 de Octubre [Madrid], Université de Paris (UP), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), King's College Hospital (KCH), MRC Centre for Neuromuscular Diseases [London, UK], University Hospital Erlangen = Uniklinikum Erlangen, Radboud University [Nijmegen], Radboud University Medical Center [Nijmegen], Gillette Children's Specialty Healthcare [St Paul], Georg-August-University = Georg-August-Universität Göttingen, Ruhr-Universität Bochum [Bochum], Université Paris Cité (UPCité), Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité)

المصدر: Acta Neuropathologica, 141, 431-453
Acta Neuropathologica, Vol. 141, no. 3, p. 431-453 (2021)
Acta Neuropathologica, 141, 3, pp. 431-453
Acta Neuropathologica
Acta Neuropathologica, Springer Verlag, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Weakness, Adolescent, Myotonia Congenita, Mutation, Missense, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Extraocular muscles, Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12], Pathology and Forensic Medicine, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Humans, Medicine, Missense mutation, Connectin, Child, Myopathy, Aged, Muscle contracture, Genetics, Phenocopy, Original Paper, biology, business.industry, Infant, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, Congenital myopathy, 3. Good health, 030104 developmental biology, medicine.anatomical_structure, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Child, Preschool, biology.protein, Female, Titin, Neurology (clinical), medicine.symptom, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a50b0834b2069a16869cd3b6e7cc432fTest
http://hdl.handle.net/2066/231686Test

3

Screening for oropharyngeal dysphagia in adult patients with neuromuscular diseases using the Sydney Swallow Questionnaire

المؤلفون: Giuseppe Liistro, William Poncin, Gregory Reychler, Nicolas Audag, Michel Toussaint, Laure Vandervelde, Christophe Goubau, Peter Van den Bergh

المساهمون: UCL - SSS/IREC/PNEU - Pôle de Pneumologie, ORL et Dermatologie, UCL - (SLuc) Département de pédiatrie, UCL - (SLuc) Service de pneumologie

المصدر: Muscle & nerve, Vol. 64, no.3, p. 277-284 (2021)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Physiology, neuromuscular diseases, 030105 genetics & heredity, Myotonic dystrophy, Severity of Illness Index, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Physiology (medical), Internal medicine, Surveys and Questionnaires, medicine, otorhinolaryngologic diseases, Humans, Mass Screening, In patient, Amyotrophic lateral sclerosis, Adult patients, business.industry, Medical record, screening, Sydney Swallow Questionnaire, Neuromuscular Diseases, Middle Aged, medicine.disease, Sydney swallow questionnaire, Dysphagia, oropharyngeal dysphagia, Deglutition, Female, Neurology (clinical), medicine.symptom, business, Deglutition Disorders, 030217 neurology & neurosurgery, Oropharyngeal dysphagia

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ecc095dbbc63fbabac183840085373dTest
https://hdl.handle.net/2078.1/260933Test

4

230th ENMC International Workshop

المصدر: Neuromuscular Disorders. 27:1065-1072

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c6577ac8e785f3a6a6ac3608be6f1c79Test
https://doi.org/10.1016/j.nmd.2017.08.001Test

5

Cramp‐fasciculation syndrome associated with monofocal motor neuropathy

المؤلفون: Peter Van den Bergh, Vincent Van Pesch, Nicolas Dubuisson

المصدر: Muscle & Nerve. 56:828-832

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::153303633a7beed216344e5ad578df7bTest
https://doi.org/10.1002/mus.25528Test

6

Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness

المساهمون: UCL - (SLuc) Service de neurologie, UCL - SSS/IONS/NEUR - Clinical Neuroscience, Medicum, Department of Medical and Clinical Genetics, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents

المصدر: Skeletal Muscle, Vol. 8, no. 1, p. 23 [1-12] (2018)
Skeletal muscle 8(1), 23 (2018). doi:10.1186/s13395-018-0170-1
Skeletal Muscle
Johnson, K, Bertoli, M, Phillips, L, Töpf, A, Van den Bergh, P, Vissing, J, Witting, N, Nafissi, S, Jamal-Omidi, S, Łusakowska, A, Kostera-Pruszczyk, A, Potulska-Chromik, A, Deconinck, N, Wallgren-Pettersson, C, Strang-Karlsson, S, Colomer, J, Claeys, K G, De Ridder, W, Baets, J, von der Hagen, M, Fernández-Torrón, R, Zulaica Ijurco, M, Espinal Valencia, J B, Hahn, A, Durmus, H, Willis, T, Xu, L, Valkanas, E, Mullen, T E, Lek, M, MacArthur, D G & Straub, V 2018, ' Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness ', Skeletal Muscle, vol. 8, 23 . https://doi.org/10.1186/s13395-018-0170-1Test
SKELET MUSCLE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Skeletal Muscle, 8 (1
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Skeletal Muscle, Vol 8, Iss 1, Pp 1-12 (2018)
Skeletal muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Glycosylation, Whole Exome Sequencing/methods, Muscle Proteins, Hygiène et médecine sportives, Bioinformatics, WALKER-WARBURG-SYNDROME, 0302 clinical medicine, Orthopedics and Sports Medicine, Limb-girdle muscle weakness, Child, Dystroglycans, Exome sequencing, Muscle Proteins/genetics, Aged, 80 and over, Homozygote, Middle Aged, Dystroglycanopathies, 3. Good health, Whole-exome sequencing, medicine.anatomical_structure, Phenotype, Dystroglycans/metabolism, Child, Preschool, Orthopédie, Congenital muscular dystrophy, SKELETAL-MUSCLE, Female, medicine.symptom, GLYCOPROTEIN COMPLEX, Life Sciences & Biomedicine, ALPHA-DYSTROGLYCAN, Adult, Heterozygote, Proximal muscle weakness, Adolescent, EYE-BRAIN DISEASE, 03 medical and health sciences, Young Adult, Glycoprotein complex, Exome Sequencing, medicine, Humans, ABNORMAL GLYCOSYLATION, Genetic Predisposition to Disease, Walker–Warburg syndrome, Biology, Molecular Biology, POMT2 MUTATIONS, Aged, Science & Technology, Genetic heterogeneity, business.industry, Research, Muscular Dystrophies, Limb-Girdle/genetics, Muscle weakness, Skeletal muscle, Genetic Variation, Cell Biology, medicine.disease, Cancérologie, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Mutation, CONGENITAL MUSCULAR-DYSTROPHY, 1182 Biochemistry, cell and molecular biology, Biologie cellulaire, Human medicine, DEFECTIVE GLYCOSYLATION, 3111 Biomedicine, lcsh:RC925-935, business, 030217 neurology & neurosurgery, MENTAL-RETARDATION

وصف الملف: application/pdf; Electronic; 1 full-text file(s): application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed866fead030563b4d9ea59130e00061Test
https://hdl.handle.net/2078.1/220057Test

7

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

المؤلفون: Fabrice Michel, Cristina Domínguez-González, Gabriel Viennet, H. Orhan Akman, Johanna Nilsson, Carola Hedberg-Oldfors, Cornelia Kornblum, Aurelio Hernández-Laín, Salvatore DiMauro, Norma B. Romero, Peter Van den Bergh, Anders Oldfors, Andrew G. Engel, Edoardo Malfatti

المصدر: Annals of Neurology. 76:891-898

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::5cf0f6d180b7e5aae9952ad294fc083dTest
https://doi.org/10.1002/ana.24284Test

8

Sporadic late-onset nemaline myopathy: clinico-pathological characteristics and review of 76 cases

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie, University of Zurich, Claeys, Kristl G

المصدر: Orphanet Journal of Rare Diseases, Vol. 12, no.1, p. 86 (2017)
Orphanet Journal of Rare Diseases, Vol. 12, no. 1, p. 86 [1-12] (2017)
Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases 12(1), 86 (2017). doi:10.1186/s13023-017-0640-2
Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-12 (2017)
Orphanet journal of rare diseases

مصطلحات موضوعية: HIV-NM, 2716 Genetics (clinical), Weakness, Paraproteinemia, Pathology, medicine.medical_specialty, HIV-associated nemaline myopathy, lcsh:Medicine, 610 Medicine & health, Late onset, Review, Muscle disorder, Myopathies, Nemaline, SLONM, 03 medical and health sciences, 0302 clinical medicine, Nemaline myopathy, Atrophy, medicine, 2736 Pharmacology (medical), Animals, Humans, Pharmacology (medical), ddc:610, Age of Onset, Myopathy, Genetics (clinical), Immunosuppression Therapy, Muscle biopsy, medicine.diagnostic_test, business.industry, Muscles, lcsh:R, Monoclonal gammopathy, High-Throughput Nucleotide Sequencing, General Medicine, medicine.disease, 10040 Clinic for Neurology, 030220 oncology & carcinogenesis, NGS, Immunology, MGUS, Human medicine, medicine.symptom, business, 030217 neurology & neurosurgery, Stem Cell Transplantation

وصف الملف: Electronic; application/pdf; s13023-017-0640-2.pdf - application/pdf; pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db244b832f5e53bcd295a37183776f6bTest
https://hdl.handle.net/2078.1/185606Test

9

ANO5Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

المؤلفون: Russell Lane, Isabelle Pénisson-Besnier, Wojtek Rakowicz, Charlotte K. Brierley, Cheryl Longman, Fiona Norwood, Andrew P. Jackson, Dieter Gläser, Matt Parton, Rumaisa Bashir, David Hilton-Jones, Debbie Hicks, Benedikt Schoser, Marcus Deschauer, Paul Maddison, John Nixon, Laura E. Rufibach, Meriel McEntagart, Isabel Illa, John McConville, Rita Barresi, John B Winer, Herbert Schreiber, Grainne S. Gorman, Laurence A. Bindoff, Christopher J Price, Hanns Lochmüller, Partha Ray, Simon Hammans, David Cottrell, Mark Roberts, Anthony H.V. Schapira, J. Hudson, Francesco Muntoni, Elizabeth Harris, Jay Panicker, Richard Walters, Ali Al-Memar, Robert G. Cooper, Esther Hwang, Sabine Krause, Pamela J. Shaw, Robert J. Swingler, Michelle Eagle, Bertold Schrank, Anna Sarkozy, Andrew W. Gibson, Maggie C. Walter, Richard E. Petty, Michael G. Hanna, Kathryn R. Wagner, Chris Turner, Peter Van den Bergh, Aijaz Khan, Geraldine Bailey, Michela Guglieri, NP Davies, Kate Bushby, Volker Straub, Jürgen Seeger, Liesbeth De Waele, Steve Laval, Douglass M. Turnbull

المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie

المصدر: Human Mutation, Vol. 34, no.8, p. 1111-1118 (2013)
Human mutation, 2013, Vol.34(8), pp.1111-1118 [Peer Reviewed Journal]
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687Test
https://doi.org/10.1002/humu.22342Test

10

Acute-onset chronic inflammatory demyelinating polyneuropathy with cranial nerve involvement, dysautonomia, respiratory failure, and autoantibodies

المؤلفون: Luc Kevers, Philippe Hantson, Peter Van den Bergh, Nicole Fabien

المصدر: Muscle & Nerve. 41:423-426

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9adb59da41213979d2ad5b4391765925Test
https://doi.org/10.1002/mus.21543Test

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