نتائج البحث

المساهمون: Ricci, Giulia, Ruggiero, Lucia, Vercelli, Liliana, Sera, Francesco, Nikolic, Ana, Govi, Monica, Mele, Fabiano, Daolio, Jessica, Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Bucci, Elisabetta, Cao, Michelangelo, D’Amico, Maria Chiara, D’Angelo, Grazia, Di Muzio, Antonio, Filosto, Massimiliano, Maggi, Lorenzo, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Pegoraro, Elena, Rodolico, Carmelo, Santoro, Lucio, Siciliano, Gabriele, Tomelleri, Giuliano, Villa, Luisa, Tupler, Rossella

مصطلحات موضوعية: Clinical phenotype, Diagnostic criteria, Disease classification, Disease registry, FSHD, Adult, Age of Onset, Aged, Family, Female, Genetic Predisposition to Disease, Human, Italy, Male, Middle Aged, Motor Activity, Muscle Strength, Muscular Dystrophy, Facioscapulohumeral, Neurologic Examination, Observer Variation, Phenotype, Registrie, Neurology, Neurology (clinical)

العلاقة: info:eu-repo/semantics/altIdentifier/pmid/27126453; info:eu-repo/semantics/altIdentifier/wos/WOS:000377450700018; volume:263; issue:6; firstpage:1204; lastpage:1214; numberofpages:11; journal:JOURNAL OF NEUROLOGY; http://hdl.handle.net/11380/1135869Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84964546762

الإتاحة: https://doi.org/10.1007/s00415-016-8123-2Test
http://hdl.handle.net/11380/1135869Test

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6

Tracking muscle wasting and disease activity in facioscapulohumeral muscular dystrophy by qualitative longitudinal imaging

المؤلفون: Mauro Monforte, Maria Rosaria Bagnato, Pierfrancesco Ottaviani, Giorgio Tasca, Francesco Laschena, Enzo Ricci, Anna Pichiecchio

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 10, Iss 6, Pp 1258-1265 (2019)
Journal of Cachexia, Sarcopenia and Muscle

مصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Diseases of the musculoskeletal system, Disease, Muscle wasting, 0302 clinical medicine, Facioscapulohumeral muscular dystrophy, Orthopedics and Sports Medicine, Longitudinal Studies, Prospective Studies, Wasting, Qualitative Research, medicine.diagnostic_test, lcsh:Human anatomy, Middle Aged, Prognosis, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Settore MED/26 - NEUROLOGIA, Biomarkers, FSHD, Muscle MRI, STIR hyperintensity, 030220 oncology & carcinogenesis, Disease Progression, Original Article, Female, Radiology, medicine.symptom, Adult, medicine.medical_specialty, lcsh:QM1-695, Lesion, 03 medical and health sciences, Young Adult, Physiology (medical), medicine, Humans, Aged, business.industry, Wasting Syndrome, Magnetic resonance imaging, Odds ratio, Original Articles, medicine.disease, Confidence interval, Clinical trial, 030104 developmental biology, lcsh:RC925-935, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff093bfd6b947f918296662b3b778650Test
https://doaj.org/article/beef9abaa7c646c8a2472f78177458c2Test

7

Single-molecule optical mapping enables quantitative measurement of D4Z4 repeats in facioscapulohumeral muscular dystrophy (FSHD)

المؤلفون: Fan Yang, Depeng Wang, Liying Cui, Yu Huang, Pidong Li, Shangzhi Huang, Zhi-Qiang Wang, Kai Wang, Jiapeng Zhou, Li Fang, Fan Liang, Yi Dai

المصدر: Journal of Medical Genetics

مصطلحات موضوعية: musculoskeletal diseases, Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, facioscapulohumeral muscular dystrophy, Computational biology, Biology, macrosatellite, Young Adult, Segmental Duplications, Genomic, Tandem repeat, Methods, Genetics, medicine, Humans, Facioscapulohumeral muscular dystrophy, Muscular dystrophy, Allele, Alleles, Genetics (clinical), Segmental duplication, Southern blot, FSHD, D4Z4, Haplotype, DNA, Middle Aged, Telomere, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, Single Molecule Imaging, Pedigree, Restriction enzyme, Haplotypes, Tandem Repeat Sequences, single-molecule optical mapping, Female, Chromosomes, Human, Pair 4

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2f0164ec2609c29ef569811b520343faTest
https://doi.org/10.1136/jmedgenet-2019-106078Test

8

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

المساهمون: Human Genetics Department [LAU Gilbert and Rose-Marie Chagoury School of Medicine], Gilbert and Rose-Marie Chagoury School of Medicine [Lebanese American University], Lebanese American University (LAU)-Lebanese American University (LAU), Institut Jérôme Lejeune, Centre for Arab Genomic Studies (CAGS), Hôtel-Dieu de France (HDF), Université Saint-Joseph de Beyrouth (USJ), Saint George Hospital University Medical Center [UOB LIBAN], University of Balamand [Liban] (UOB), Lebanese University [Beirut] (LU), Lebanese American University (LAU), Neuropediatrics Department [Beirut, Lebanon], Rafic Hariri University Hospital [Beirut, Lebanon], Department of Neurology, Lebanese University Hospital-Geitaoui, Department of Laboratory Science and Technology, American University of Science and Technology (AUST), Institut de génétique humaine (IGH), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital de la Timone [CHU - APHM] (TIMONE), Service de biochimie et de génétique moléculaire [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), 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), Gestionnaire, Hal Sorbonne Université

المصدر: Journal of Neuromuscular Diseases
Journal of Neuromuscular Diseases, 2022, 9 (1), pp.193-210. ⟨10.3233/JND-210652⟩

مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Disease, [SDV.GEN] Life Sciences [q-bio]/Genetics, Muscular Dystrophies, Muscular Atrophy, Spinal, Young Adult, Charcot-Marie-Tooth Disease, DMD, medicine, Genetics, Humans, SMA, [SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Muscular dystrophy, Lebanon, Motor Neuron Disease, education, Child, Retrospective Studies, education.field_of_study, FSHD, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, Incidence (epidemiology), CMT, Infant, Spinal muscular atrophy, Middle Aged, medicine.disease, LGMD, Muscular Dystrophy, Duchenne, Neurology, Muscular Dystrophies, Limb-Girdle, Child, Preschool, Cohort, [SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC], Female, Neurology (clinical), neuromuscular, business, Cohort study, Limb-girdle muscular dystrophy

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::57ef5fc9d8231e08324d8b33ef984239Test
https://pubmed.ncbi.nlm.nih.gov/34602496Test

9

A 22-year follow-up reveals a variable disease severity in early-onset facioscapulohumeral dystrophy

المؤلفون: Richard J.L.F. Lemmers, Oebele F. Brouwer, Nicol C. Voermans, Baziel G.M. van Engelen, George W. Padberg, Corrie E. Erasmus, Karlien Mul, Caroline R. van Kernebeek, Rianne J.M. Goselink, Silvère M. van der Maarel

المصدر: European Journal of Paediatric Neurology, 22(5), 782-785. ELSEVIER SCI LTD
European Journal of Paediatric Neurology, 22, 5, pp. 782-785
European Journal of Paediatric Neurology, 22, 782-785

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Infantile FSHD, Adolescent, Hearing loss, Natural history, Other Research Donders Center for Medical Neuroscience [Radboudumc 0], Physical examination, Facioscapulohumeral dystrophy, DIAGNOSIS, 03 medical and health sciences, 0302 clinical medicine, Wheelchair, Intellectual disability, Medicine, Humans, Age of Onset, Variable disease severity, medicine.diagnostic_test, business.industry, Dystrophy, Early-onset FSHD, General Medicine, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], medicine.disease, MUSCULAR-DYSTROPHY, Muscular Dystrophy, Facioscapulohumeral, Clinical trial, 030104 developmental biology, Phenotype, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery, Neuromuscular disorders, Follow-Up Studies

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca33a22fb1b90995a41c02f559f9f78cTest
https://doi.org/10.1016/j.ejpn.2018.04.013Test

10

Phenotype‐genotype relations in facioscapulohumeral muscular dystrophy type 1

المؤلفون: Patrick J. van der Vliet, Baziel G.M. van Engelen, George W. Padberg, Nicol C. Voermans, Silvère M. van der Maarel, Corinne G.C. Horlings, Marianne A. Jonker, Richard J.L.F. Lemmers, Karlien Mul

المصدر: Clinical Genetics, 94, 6, pp. 521-527
Clinical Genetics, 94, 521-527
Clinical Genetics, 94(6), 521-527

مصطلحات موضوعية: Male, 0301 basic medicine, Penetrance, Severity of Illness Index, Gastroenterology, 0302 clinical medicine, Genotype, Facioscapulohumeral muscular dystrophy, Genetics (clinical), Aged, 80 and over, Middle Aged, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Explained variation, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Women's cancers Radboud Institute for Health Sciences [Radboudumc 17], Facial muscles, Phenotype, medicine.anatomical_structure, facioscapulohumeral muscular dystrophy (FSHD), Female, Body region, Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Adolescent, Locus (genetics), Young Adult, 03 medical and health sciences, All institutes and research themes of the Radboud University Medical Center, disease modifiers, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Allele, Alleles, Genetic Association Studies, Aged, epigenetics, business.industry, medicine.disease, 030104 developmental biology, Haplotypes, business, Biomarkers, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9aaaff8ad1096fcdd3661a112405443Test
https://doi.org/10.1111/cge.13446Test

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