نتائج البحث

1

RIPK3‐mediated cell death is involved in DUX4‐mediated toxicity in facioscapulohumeral dystrophy

المؤلفون: Julie Dumonceaux, William Duddy, Romain Joubert, Maximilien Bencze, Laura Le Gall, Thomas Voit, Virginie Mariot, Eva Sidlauskaite, Christophe Hourdé

المصدر: Journal of Cachexia, Sarcopenia and Muscle, Vol 12, Iss 6, Pp 2079-2090 (2021)
Journal of Cachexia, Sarcopenia and Muscle

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::075fc9e33c1a08fbd00487bd0e73361dTest
https://doi.org/10.1002/jcsm.12813Test

2

Current Therapeutic Approaches in FSHD

المؤلفون: Rabi Tawil, Leo H. Wang

المصدر: Journal of Neuromuscular Diseases

مصطلحات موضوعية: musculoskeletal diseases, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Review, Bioinformatics, outcome measures, 03 medical and health sciences, 0302 clinical medicine, DUX4, Humans, Medicine, Facioscapulohumeral muscular dystrophy, Muscle, Skeletal, Homeodomain Proteins, facioscapulohumeral dystrophy (FSHD), business.industry, Mechanism (biology), Outcome measures, medicine.disease, Muscular Dystrophy, Facioscapulohumeral, nervous system diseases, Clinical trial, 030104 developmental biology, Muscle disease, Neurology, Drug development, Underlying disease, muscle disease, Neurology (clinical), business, 030217 neurology & neurosurgery, All neuromuscular disease

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31ec4b4e0889a0047e4f84df7bfc1646Test
https://doi.org/10.3233/jnd-200554Test

3

The facioscapulohumeral muscular dystrophy Rasch‐built overall disability scale (FSHD‐RODS)

المؤلفون: Nicol C. Voermans, Sabrina Sacconi, Corinne G.C. Horlings, Jeffrey Statland, Karlien Mul, Rabi Tawil, Ingemar S. J. Merkies, Alastair Corbett, Catharina G. Faber, Tatiana Hamadeh, Baziel G.M. van Engelen

المساهمون: RS: MHeNs - R1 - Cognitive Neuropsychiatry and Clinical Neuroscience, Klinische Neurowetenschappen, MUMC+: MA Med Staf Spec Neurologie (9)

المصدر: European Journal of Neurology, 28(7), 2339-2348. Wiley
European Journal of Neurology
European Journal of Neurology, 28, 7, pp. 2339-2348
European Journal of Neurology, 28, 2339-2348

مصطلحات موضوعية: validity, DISEASE, Muscle and MNJ Disorders, Disability Evaluation, 0302 clinical medicine, Quality of life, QUALITY-OF-LIFE, Surveys and Questionnaires, Facioscapulohumeral muscular dystrophy, 030212 general & internal medicine, Reliability (statistics), EXAMPLE, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], CLINICAL-TRIAL PREPAREDNESS, Muscular Dystrophy, Facioscapulohumeral, Neurology, NATIONAL REGISTRY, Scale (social sciences), Cohort, Original Article, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, ENMC INTERNATIONAL WORKSHOP, 03 medical and health sciences, ORDINAL SCALES, medicine, Humans, Disabled Persons, DRUG DEVELOPMENT, FSHD, reliability, Rasch model, business.industry, Reproducibility of Results, facioscapulohumeral dystrophy, Rasch‐built disability scale, OUTCOME MEASURES, Interval Scale, medicine.disease, built disability scale, Differential item functioning, MEASUREMENT MODEL, Physical therapy, outcome research, Rasch‐, Neurology (clinical), activity and participation, business, 030217 neurology & neurosurgery

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18bb6fe479b9af87aad2f06a538fba60Test
https://doi.org/10.1111/ene.14863Test

4

Artificial Intelligence for Evaluation of Retinal Vasculopathy in Facioscapulohumeral Dystrophy Using OCT Angiography: A Case Series

المؤلفون: Martina Maceroni, Mauro Monforte, Rossella Cariola, Benedetto Falsini, Stanislao Rizzo, Maria Cristina Savastano, Francesco Martelli, Enzo Ricci, Sara Bortolani, Giorgio Tasca, Angelo Maria Minnella

المصدر: Diagnostics
Volume 13
Issue 5
Pages: 982

مصطلحات موضوعية: tortuosity index (TI), Settore MED/30 - MALATTIE APPARATO VISIVO, retinal vasculopathy, vessel density (VD), Clinical Biochemistry, facioscapulohumeral muscular dystrophy (FSHD), foveal avascular zone (FAZ), deep capillary plexus (DCP), superficial capillary plexus (SCP), optical coherence tomography-angiography (OCT-A)

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7454d14b37f547e9635cafb2bd5387b9Test
https://doi.org/10.3390/diagnostics13050982Test

5

Designed U7 snRNAs inhibit DUX4 expression and improve FSHD-associated outcomes in DUX4 overexpressing cells and FSHD patient myotubes

المؤلفون: Scott Q. Harper, Nicolas Wein, Gholamhossein Amini-Chermahini, Noah K. Taylor, Afrooz Rashnonejad

المصدر: Molecular Therapy: Nucleic Acids, Vol 23, Iss, Pp 476-486 (2021)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02b7486e41f503ad62b48e163701f988Test
https://doi.org/10.1016/j.omtn.2020.12.004Test

6

Estradiol differentially regulates DUX4, β-catenin and PAX3/PAX7 in primary myoblasts of facioscapulohumeral muscular dystrophy patients

المؤلفون: Esin Guvenir Celik, Hilmi Uysal, Hacer Kaya, Sibel Berker Karauzum, Onur Eroglu, Ceren Hangul

المساهمون: Güvenir Çelik, Esin, Kaya, Hacer, Eroğlu, Onur

المصدر: Turkish Journal of Biochemistry. 46:435-444

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7a11122fa0f6d9a40acff7acd1ad2d33Test
https://doi.org/10.1515/tjb-2020-0351Test

7

A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy

المؤلفون: R. Joubert, Julie Dumonceaux, Thomas Voit, Virginie Mariot, Christophe Hourdé, Anne-Charlotte Marsollier

المصدر: Molecular Therapy. Nucleic Acids
Molecular Therapy: Nucleic Acids, Vol 22, Iss, Pp 1191-1199 (2020)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3dafad34aa47416725313adfd7b0083Test
https://doi.org/10.1016/j.omtn.2020.10.028Test

8

Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease

المؤلفون: Karlien Mul, Marjolein Kriek, Baziel G.M. van Engelen, Saskia Lassche, Umesh A. Badrising, Nicol C. Voermans, Olivier W.H. van der Heijden, Nienke van der Stoep, Aimee D C Paulussen, Christine E. M. de Die-Smulders, Sanne C. C. Vincenten

المصدر: Clinical Genetics, 101, 149-160
Clinical Genetics, 101, 2, pp. 149-160
Clinical Genetics, 101(2), 149-160. WILEY

مصطلحات موضوعية: Male, Multifactorial Inheritance, Reproductive counseling, Disease, Bioinformatics, Severity of Illness Index, Inheritance Patterns, Medicine, Facioscapulohumeral muscular dystrophy, genetics, D4Z4 REPEAT, Genetics (clinical), REARRANGEMENTS, Pregnancy Outcome, WOMEN, Disease Management, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Penetrance, Muscular Dystrophy, Facioscapulohumeral, Phenotype, Female, pregnancy, delivery, preimplantation genetic testing, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, SOMATIC MOSAICISM, Clinical Decision-Making, facioscapulohumeral muscular dystrophy, Genetic Counseling, Prenatal diagnosis, DIAGNOSIS, Preimplantation genetic diagnosis, REGION, Diagnosis, Differential, NEUROMUSCULAR DISORDERS, Humans, Genetic Predisposition to Disease, Genetic Testing, Genetic Association Studies, FSHD, Pregnancy, prenatal diagnosis, SMCHD1, business.industry, medicine.disease, Pregnancy Complications, business

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30298dec965d8f350bb49e2ddaed70eaTest
http://hdl.handle.net/2066/248860Test

9

Randomized phase 2 study of ACE-083, a muscle-promoting agent, in facioscapulohumeral muscular dystrophy

المصدر: MUSCLE & NERVE
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe

مصطلحات موضوعية: Adult, FSHD, Adolescent, Physiology, facioscapulohumeral muscular dystrophy, controlled trial, Magnetic Resonance Imaging, Muscular Dystrophy, Facioscapulohumeral, Cellular and Molecular Neuroscience, Physiology (medical), randomized, Cytomegalovirus Infections, Humans, Neurology (clinical), Muscle, Skeletal, Muscle Contraction

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5633f4fbc98d0656df25aa5f60ef8e7fTest
https://iibsantpau.fundanetsuite.com/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=9872Test

10

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

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