-
1
المؤلفون: Maggie C. Walter, Pascal Laforêt, W. Ludo van der Pol, Elena Pegoraro, Shahram Attarian, Bart Bartels, Ksenija Gorni, Nathalie Goemans, Nicole Gusset, Victoria Hodgkinson, Tim Hagenacker, Janbernd Kirschner, Andrea Klein, Anna Kostera-Pruszczyk, Hanns Lochmüller, Chiara Marini-Bettolo, Eugenio Mercuri, Robert Muni-Lofra, Laetitia Ouillade, Rosaline Quinlivan, Constantinos Papadopoulos, Hélène Prigent, Emmanuelle Salort-Campana, Valeria A Sansone, Rivka Smit, Piera Smeriglio, Simone Thiele, Ben Tichler, Peter Van den Bergh, Juan F Vazquez-Costa, John Vissing
المصدر: Neuromuscular Disorders. 33:511-522
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Medizin, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358ba1ce701ca027f0bfab2def0d78b1Test
https://doi.org/10.1016/j.nmd.2023.03.011Test -
2
المؤلفون: Ana Töpf, Katherine Johnson, Adam Bates, Lauren Phillips, Katherine R. Chao, Eleina M. England, Kristen M. Laricchia, Thomas Mullen, Elise Valkanas, Liwen Xu, Marta Bertoli, Alison Blain, Ana B. Casasús, Jennifer Duff, Magdalena Mroczek, Sabine Specht, Monkol Lek, Monica Ensini, Daniel G. MacArthur, Ela Akay, Jorge Alonso-Pérez, Jonathan Baets, Nina Barisic, Alexandra Bastian, Sabine Borell, Teodora Chamova, Kristl Claeys, Jaume Colomer, Sandra Coppens, Nicolas Deconinck, Willem de Ridder, Jordi Díaz-Manera, Cristina Domínguez-González, Alexis Duncan, Hacer Durmus, Nagia A. Fahmy, Maria Elena Farrugia, Roberto Fernández-Torrón, Lidia Gonzalez-Quereda, Jana Haberlova, Maja von der Hagen, Andreas Hahn, Antonia Jakovčević, Ivonne Jerico Pascual, Solange Kapetanovic, Viktorija Kenina, Janbernd Kirschner, Andrea Klein, Heike Kölbel, Anna Kostera-Pruszczyk, Richa Kulshrestha, Jaana Lähdetie, Mahsa Layegh, Cheryl Longman, Adolfo López de Munain, Wolfgang Loscher, Anna Lusakowska, Paul Maddison, Armelle Magot, Anirban Majumdar, Pilar Martí, Amaia Martínez Arroyo, Radim Mazanec, Sandra Mercier, Tiziana Mongini, Nuria Muelas, Andrés Nascimento, Shahriar Nafissi, Shirin Omidi, Carlos Ortez, Stéphanie Paquay, Yann Pereon, Stojan Perić, Valentina Ponzalino, Vidosava Rakočević Stojanović, Gauthier Remiche, Aida Rodríguez Sainz, Sabine Rudnik, Iciar Sanchez Albisua, Manuela Santos, Ulrike Schara, Andriy Shatillo, Jadranka Sertić, Ulrich Stephani, Sonja Strang-Karlsson, Yves Sznajer, Ani Tanev, Ivailo Tournev, Peter Van den Bergh, Vinciane Van Parijs, Juan Vílchez, Katharina Vill, John Vissing, Carina Wallgren-Pettersson, Julia Wanschitz, Tracey Willis, Nanna Witting, Miren Zulaica, Volker Straub
المساهمون: MYO-SEQ Consortium, HUSLAB, HUS Children and Adolescents, Clinicum, Medicum, Claeys, Kristl
المصدر: Genetics in medicine
Genetics in Medicine
GENETICS IN MEDICINE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instnameمصطلحات موضوعية: 0301 basic medicine, targeted exome analysis, Neuromuscular disease, Medizin, Anoctamins, 030105 genetics & heredity, Bioinformatics, 3124 Neurology and psychiatry, DNA sequencing, Article, 03 medical and health sciences, genetic diagnosis, limb-girdle weakness, neuromuscular disease, next-generation sequencing, 3123 Gynaecology and paediatrics, Exome Sequencing, Medicine, Humans, Exome, Gene, Genetics (clinical), Exome sequencing, SGCA, RYR1, Genetic heterogeneity, business.industry, Sciences bio-médicales et agricoles, medicine.disease, Phenotype, 3. Good health, 030104 developmental biology, Muscular Dystrophies, Limb-Girdle, Glucosyltransferases, Human medicine, business
وصف الملف: 1 full-text file(s): application/pdf; Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5eb0b77bdff412d8ddab3c132a95c157Test
https://repository.uantwerpen.be/docstore/d:irua:4405Test -
3
المؤلفون: Filip Eftimov, Carina Bunschoten, Yusuf Rajabally, Luis Querol, Max E. Adrichem, Jeffrey Allen, Jean-Cristophe Antoine, Ivana Basta, Peter Van den Bergh, Patricia Blomkwist-Markens, Alexandra Breukel, David Cornblath, Kathrin Doppler, Stephan Goedee, Robert Hadden, Thomas Harbo, Fu Liong Hiew, Bart C. Jacobs, Helmar Lehmann, Michael P. Lunn, Ingemar S.J. Merkies, Eduardo Nobile-Orazio, Stephen Reddel, Jean-Michel Vallat, Antonino Uncini
المصدر: Neuromuscular Disorders. 28:178-184
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, International standard, MEDLINE, Biobank, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Neurology, Pediatrics, Perinatology and Child Health, medicine, Diagnostic data, Medical physics, Neurology (clinical), business, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7db5408b7c5415bca8ab708876a9936fTest
https://doi.org/10.1016/j.nmd.2017.10.009Test -
4
المؤلفون: Mariëlle H.J. Pruppers, Ingemar S.J. Merkies, Michael P.T. Lunn, Nicolette C. Notermans, Peter van den Bergh, Patricia Blomkwist-Markens, David Cornblath, Shirley D'Sa, Catharina Faber, Stephan Goedee, Ken Gorson, Jean-Marc Léger, Richard Lewis, Michael Lunn, Lou Mazawey, Ingemar Merkies, Eduardo Nobile-Orazio, Nicolette Notermans, Luca Padua, Ludo van der Pol, Mariëlle Pruppers, Louis Querol, Andreas Steck, Hugh Willison
المصدر: Neuromuscular Disorders. 27:1065-1072
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, business.industry, Anti-MAG peripheral neuropathy, Outcome measures, Future assessment, Clinical neurology, 03 medical and health sciences, Monoclonal gammopathy, 030104 developmental biology, 0302 clinical medicine, Neurology, Family medicine, Pediatrics, Perinatology and Child Health, Demyelinating neuropathy, Medicine, Neurology (clinical), medicine.symptom, business, WALDENSTROMS MACROGLOBULINEMIA, 030217 neurology & neurosurgery, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c6577ac8e785f3a6a6ac3608be6f1c79Test
https://doi.org/10.1016/j.nmd.2017.08.001Test -
5
المؤلفون: Karin Huijben, Michèl A.A.P. Willemsen, Marina Moraitou, Elissavet Georgiadou, Mohammad Alsady, Walinka van Tol, Dirk Lefeber, Peter Van den Bergh, Helen Michelakakis, Constantinos Papadopoulos, George K. Papadimas
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Journal of Inherited Metabolic Disease, 42, 5, pp. 984-992
Journal of inherited metabolic disease, Vol. 42, no. 5, p. 984-992 (2019)
Journal of Inherited Metabolic Disease, 42, 984-992مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, congenital, hereditary, and neonatal diseases and abnormalities, Glycosylation, Biopsy, Biology, Mannosyltransferases, Muscular Dystrophies, chemistry.chemical_compound, Dolichol, Congenital Disorders of Glycosylation, All institutes and research themes of the Radboud University Medical Center, Western blot, Internal medicine, dystroglycanopathy, Genetics, medicine, Humans, Disorders of movement Radboud Institute for Molecular Life Sciences [Radboudumc 3], Child, Dystroglycans, Muscle, Skeletal, Genetics (clinical), chemistry.chemical_classification, medicine.diagnostic_test, Genetic heterogeneity, Skeletal muscle, Membrane Proteins, DPM3-CDG, Metabolism, dolichol-phosphate-mannose, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Phenotype, carbohydrates (lipids), medicine.anatomical_structure, Endocrinology, chemistry, Transferrin, tissue-specific glycosylation, Mutation, Female, lipids (amino acids, peptides, and proteins), congenital disorders of glycosylation
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fae4ebf7eae1f1bd0b7a24d34ee92a6Test
https://doi.org/10.1002/jimd.12095Test -
6
المؤلفون: Antje Bornemann, Lukas J. Schnitzler, Christian Hartmann, Peter De Jonghe, Jens Reimann, Peter Van den Bergh, Andreas Meisel, Jörg B. Schulz, Jens A. Petersen, Aleksandra Nadaj-Pakleza, Joachim Weis, Philip Van Damme, Kristl G. Claeys, Andreas Ferbert, Elisabeth J. Rushing, Tobias Schreckenbach, Thomas Tousseyn, Jean-Jacques Martin, Werner Stenzel, Dietmar Rudolf Thal, Susanne Petri
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 diseasesمصطلحات 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 -
7
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
instnameمصطلحات موضوعية: muscular dystrophy, Adult, Male, medicine.medical_specialty, Anoctamins, Gene mutation, Biology, ANO5, medicine.disease_cause, Exon, Sex Factors, Chloride Channels, Internal medicine, Prevalence, Genetics, medicine, Muscular dystrophy, Humans, Allele, Myopathy, Genetics (clinical), Retrospective Studies, Aged, LGMD2L, Mutation, Clinical pathology, Gender, Genetic Variation, Middle Aged, medicine.disease, Europe, Phenotype, Muscular Dystrophies, Limb-Girdle, Female, medicine.symptom, Limb-girdle muscular dystrophy
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de3e6e91bac2c99f929b8cc933a27687Test
https://doi.org/10.1002/humu.22342Test -
8
المؤلفون: Peter Van den Bergh, Jean-Louis Thonnard, Massimo Penta, Philip Van Damme, Anna J. Roy, Charles Sèbiyo Batcho
المساهمون: Reproduction and Genetics, Neurogenetics, Clinical sciences, UCL - SSS/IONS/COSY - Systems & cognitive Neuroscience, UCL - (SLuc) Centre de référence neuromusculaire, Louvain Bionics - Center of Interdisciplinary Expertise, UCL - (SLuc) Service de médecine physique et de réadaptation motrice, UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Neuromuscular Disorders, Vol. 26, no. 3, p. 211-220 (2016)
مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Activities of daily living, Psychometrics, Adolescent, Severity of Illness Index, 03 medical and health sciences, Disability Evaluation, 0302 clinical medicine, Physical medicine and rehabilitation, Severity of illness, Activities of Daily Living, Medicine, Humans, In patient, 030212 general & internal medicine, Medical diagnosis, Child, Genetics (clinical), Reliability (statistics), Aged, Rasch model, business.industry, Research Support, Non-U.S. Gov't, Rasch analysis, Neuromuscular Diseases, Patient-reported outcome measure, Middle Aged, Activity limitations, Neuromuscular diseases, Neurology, Pediatrics, Perinatology and Child Health, Cohort, young adult, Female, Neurology (clinical), reproducibility of results, business, aged, 80 and over, 030217 neurology & neurosurgery, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e355bdb5d8f0a89621262734b0ade861Test
https://biblio.vub.ac.be/vubir/how-robust-is-activlim-for-the-followup-of-activity-limitations-in-patients-with-neuromuscular-diseasesTest(5dd31c61-a31e-4274-b77c-2df1f016ed60).html -
9
المؤلفون: Peter Van den Bergh, Sabrina Sacconi, Andreas Ferbert, Matthias Vorgerd, Markus Bergmann, Jörg B. Schulz, Joachim Weis, Jean-Jacques Martin, Marcus Deschauer, J Elisa Bach, Peter De Jonghe, Jan Bürmann, Wolfram Kress, Kristl G. Claeys, Eva Neuen-Jacob, J. Michael Schröder, Anna-Lena Semmler, Rudolf A. Kley, Claus Liebe, Roland Anderheiden, Oliver J. Müller
المساهمون: Institut de Biologie Valrose (IBV), Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Côte d'Azur (UCA), UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, BioMed Central, 2014, 9 (1), pp.121
Orphanet Journal of Rare Diseases, Vol. 9, p. 121 [1-13] (2014)
Orphanet journal of rare diseases 9(1), 121 (2014). doi:10.1186/s13023-014-0121-9
Orphanet journal of rare diseases
Orphanet journal of rare diseases 9, 121 (2014). doi:10.1186/s13023-014-0121-9مصطلحات موضوعية: Male, Pathology, bcl-2 associated athanogene protein 3, 610 Medical sciences Medicine, 0302 clinical medicine, Genetics(clinical), Pharmacology (medical), FLNC, [SDV.BDD]Life Sciences [q-bio]/Development Biology, Genetics (clinical), Genetics, Medicine(all), 0303 health sciences, medicine.diagnostic_test, High-Throughput Nucleotide Sequencing, General Medicine, Middle Aged, Phenotype, Pedigree, 3. Good health, Mutation (genetic algorithm), Female, Protein aggregation, Polyneuropathy, Myopathies, Structural, Congenital, Adult, medicine.medical_specialty, Adolescent, Next generation sequencing, Biology, MFM, Hearing impairment, Young Adult, 03 medical and health sciences, medicine, Humans, ddc:610, Muscle, Skeletal, Gene, Adaptor Proteins, Signal Transducing, Aged, 030304 developmental biology, Nerve biopsy, Genetic heterogeneity, Research, medicine.disease, Human genetics, Mutation, Human medicine, Apoptosis Regulatory Proteins, 030217 neurology & neurosurgery
وصف الملف: application/pdf; pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb47c88657f1d9f8b9fc70a4ba9888e7Test
https://hal.archives-ouvertes.fr/hal-01117408Test -
10
المؤلفون: Nuria Muelas, Zohar Argov, Juan J. Vílchez, Sini Penttilä, Volker Straub, Carsten Bonneman, Patricia G. Wheeler, Kathryn R. Wagner, Phillipa J. Lamont, Rebecca Gooding, Kym M. Boycott, Gerald F. Cox, Alan H. Beggs, Jahannaz Dastgir, Alexandru Barboi, Anne M. Connolly, David Hilton-Jones, E. Schmedding, Johanna Palmio, Elizabeth T. DeChene, NP Davies, Heinz Jungbluth, Tiina Suominen, Bjarne Udd, Kate Bushby, Peter Van den Bergh, William Wallefeld, Nigel G. Laing, Elizabeth Wraige, Christopher Staples
المساهمون: Neuroprotection & Neuromodulation
المصدر: Human mutation. 35(7)
مصطلحات موضوعية: Proband, Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Child, preschool, Biopsy, DNA Mutational Analysis, Cardiomyopathy, Biology, Article, 03 medical and health sciences, 0302 clinical medicine, Myosin, Genetics, medicine, Missense mutation, Humans, Myopathy, Child, Muscle, Skeletal, Genetics (clinical), 030304 developmental biology, Aged, 0303 health sciences, Myosin Heavy Chains, Infant, Newborn, Skeletal muscle, Infant, Middle Aged, medicine.disease, Immunohistochemistry, 3. Good health, Distal Myopathies, medicine.anatomical_structure, Phenotype, young adult, MYH7, Female, medicine.symptom, mutation, Cardiac Myosins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95d5f95eec553d1cc27eafb63d53104cTest
http://ora.ox.ac.uk/objects/uuid:95321b62-c413-45d4-81cd-c9728f1b6a5fTest