يعرض 1 - 10 نتائج من 32 نتيجة بحث عن '"Nathalie Goemans"', وقت الاستعلام: 1.40s تنقيح النتائج
  1. 1
    Clinical Variability in Spinal Muscular Atrophy Type III

    المؤلفون: Claudio Bruno, Gian Luca Vita, Jacqueline Montes, Maria Sframeli, Tina Duong, Valeria Sansone, Annalia Frongia, Mariacristina Scoto, John W. Day, Francesco Muntoni, Giorgia Coratti, Enrico Bertini, Jessica Exposito Escudero, Simona Lucibello, Marika Pane, Sonia Messina, Allan M. Glanzman, Eugenio Mercuri, Roberto De Sanctis, Elena S. Mazzone, Anna Mayhew, Laura Antonaci, Francesca Bovis, Andrés Nascimento Osorio, Matthew Civitello, Sara Carnicella, Rachel Salazar, Richard S. Finkel, Chiara Marini Bettolo, Adele D'Amico, Nathalie Goemans, Robert Muni Lofra, Darryl C. De Vivo, Marleen Van den Hauwe, Maria Carmela Pera, Evelin Milev, Amy Pasternak, Sally Dunaway Young, Emilio Albamonte, Basil T. Darras

    المصدر: ANNALS OF NEUROLOGY
    r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
    instname
    r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
    Fundació Sant Joan de Déu

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Longitudinal study, Adolescent, Models, Neurological, Gene Dosage, Spinal Muscular Atrophies of Childhood, Young Adult, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, 0302 clinical medicine, Age of Onset, Child, Child, Preschool, Disease Progression, Female, Humans, Survival of Motor Neuron 2 Protein, Models, Internal medicine, medicine, Preschool, business.industry, Repeated measures design, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, 030104 developmental biology, Neurology, Neurological, Cohort, Neurology (clinical), sma, Age of onset, business, 030217 neurology & neurosurgery, Cohort study

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b7eff96e16ed9ca4d83cccff947b5eecTest
    https://doi.org/10.1002/ana.25900Test


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  2. 2
    Age and baseline values predict 12 and 24-month functional changes in type 2 SMA

    المؤلفون: Marika Pane, Eugenio Mercuri, Marina Pedemonte, Darryl C. De Vivo, Richard S. Finkel, Sonia Messina, Maria Carmela Pera, Simona Lucibello, Amy Pasternak, Sally Dunaway Young, Nathalie Goemans, Giorgia Coratti, Jacqueline Montes, Francesco Muntoni, Enrico Bertini, Andres Nascimiento Osorio, Allan M. Glanzman, Anna Mayhew, Mariacristina Scoto, Valeria Sansone

    مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Oligonucleotides, Spinal Muscular Atrophies of Childhood, Hammersmith functional motor scale expanded, Outcome measures, Cohort Studies, Muscular Atrophy, Spinal, 03 medical and health sciences, 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Internal medicine, Medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Baseline values, Settore MED/48 - SCIENZE INFERMIERISTICHE E TECNICHE NEURO-PSICHIATRICHE E RIABILITATIVE, business.industry, Age Factors, Retrospective cohort study, Spinal muscular atrophy, medicine.disease, SMA, Neuromuscular disorders, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Diabetes Mellitus, Type 2, Relative risk, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Disease Progression, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::afe3f81c5c04817c81c6e3c85c3aaa64Test
    http://hdl.handle.net/11570/3189921Test


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  3. 3
    The clinical, histologic, and genotypic spectrum of

    المؤلفون: Rocio N, Villar-Quiles, Maja, von der Hagen, Corinne, Métay, Victoria, Gonzalez, Sandra, Donkervoort, Enrico, Bertini, Claudia, Castiglioni, Denys, Chaigne, Jaume, Colomer, Maria Luz, Cuadrado, Marianne, de Visser, Isabelle, Desguerre, Bruno, Eymard, Nathalie, Goemans, Angela, Kaindl, Emmanuelle, Lagrue, Jürg, Lütschg, Edoardo, Malfatti, Michèle, Mayer, Luciano, Merlini, David, Orlikowski, Ulrike, Reuner, Mustafa A, Salih, Beate, Schlotter-Weigel, Mechthild, Stoetter, Volker, Straub, Haluk, Topaloglu, J Andoni, Urtizberea, Anneke, van der Kooi, Ekkehard, Wilichowski, Norma B, Romero, Michel, Fardeau, Carsten G, Bönnemann, Brigitte, Estournet, Pascale, Richard, Susana, Quijano-Roy, Ulrike, Schara, Ana, Ferreiro

    المصدر: Neurology

    مصطلحات موضوعية: Adult, Male, Adolescent, Genotype, Muscle Proteins, Middle Aged, Article, Young Adult, Muscular Diseases, Child, Preschool, Humans, Female, Child, Selenoproteins, Follow-Up Studies, Retrospective Studies

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::e88560683abbf952be2edde6fc9cd071Test
    https://pubmed.ncbi.nlm.nih.gov/32796131Test


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  4. 4
    Maternal copy-number variations in the DMD gene as secondary findings in noninvasive prenatal screening

    المؤلفون: Hilde Van Esch, Luc Dehaspe, Kristl G. Claeys, Joris Vermeesch, Nathalie Goemans, Thomy de Ravel, Kris Van Den Bogaert, Valerie Race, Hilde Peeters, Eric Legius, Jazz Storms, Koenraad Devriendt, Nathalie Brison, Darine Villela, Liesbeth De Waele

    المساهمون: Medical Genetics

    مصطلحات موضوعية: 0301 basic medicine, Adult, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, endocrine system diseases, Noninvasive Prenatal Testing, Population, Sequence Analysis, DNA/ethics, 030105 genetics & heredity, DNA Copy Number Variations/genetics, Noninvasive Prenatal Testing/ethics, Dystrophin, 03 medical and health sciences, Prenatal Diagnosis, Prenatal Diagnosis/ethics, mental disorders, medicine, Humans, Copy-number variation, education, Genetics (clinical), Genetics, Dystrophin/genetics, Pregnancy, education.field_of_study, Incidental Findings, business.industry, Sequence Analysis, DNA, medicine.disease, Pathogenicity, fetus, NIPS, 030104 developmental biology, Prenatal screening, Dmd gene, secondary findings, Female, pregnancy, business, DMD gene, maternal CNV

    وصف الملف: Print-Electronic

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b58ddfaa22b0a77211f3e82a0ce36e8Test
    https://lirias.kuleuven.be/handle/123456789/638443Test


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  5. 5
    Gait deviations in Duchenne muscular dystrophy—Part 2. Statistical non-parametric mapping to analyze gait deviations in children with Duchenne muscular dystrophy

    المؤلفون: Guy Molenaers, Marije Goudriaan, Catherine Huenaerts, Marleen Van den Hauwe, Cristina Simon-Martinez, Kaat Desloovere, Nathalie Goemans

    المصدر: Gait & Posture. 63:159-164

    مصطلحات موضوعية: Male, musculoskeletal diseases, medicine.medical_specialty, Weakness, Adolescent, Databases, Factual, Duchenne muscular dystrophy, Biophysics, Kinematics, 03 medical and health sciences, 0302 clinical medicine, Physical medicine and rehabilitation, Gait (human), medicine, Humans, Orthopedics and Sports Medicine, Range of Motion, Articular, Child, Muscle, Skeletal, Gait, Gait Disorders, Neurologic, Muscle Weakness, business.industry, Rehabilitation, Muscle weakness, 030229 sport sciences, medicine.disease, Sagittal plane, Biomechanical Phenomena, Muscular Dystrophy, Duchenne, Kinetics, medicine.anatomical_structure, Child, Preschool, Multiple comparisons problem, Female, medicine.symptom, Ankle, business, human activities, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::398a55cdf4f6e692c545a445897391b9Test
    https://doi.org/10.1016/j.gaitpost.2018.04.038Test


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  6. 6
    Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

    المؤلفون: Sofie Symoens, Riet De Rycke, Nathalie Goemans, Delfien Syx, Tibbe Dhooge, Anne Destree, Fransiska Malfait, Florence Petit, Sarah Delbaere, Olivier Vanakker

    المصدر: Genetics in medicine : official journal of the American College of Medical Genetics. 22(1)

    مصطلحات موضوعية: Adult, Collagen Type XII, Male, Adolescent, Decorin, Collagen Type VI, Compound heterozygosity, Tenascin X, Extracellular matrix, Muscular Diseases, Protein Domains, Collagen VI, medicine, Humans, Child, Genetics (clinical), Cells, Cultured, biology, High-Throughput Nucleotide Sequencing, Tenascin, Sequence Analysis, DNA, medicine.disease, Molecular biology, Exon skipping, Extracellular Matrix, Pedigree, Fibronectin, Ehlers–Danlos syndrome, Child, Preschool, Mutation, biology.protein, Ehlers-Danlos Syndrome, Female, Collagen Type V

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7dab76dd98e837602a64e4f4f0320f7Test
    https://pubmed.ncbi.nlm.nih.gov/31273343Test


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  7. 7
    A new strength assessment to evaluate the association between muscle weakness and gait pathology in children with cerebral palsy

    المؤلفون: Simon Henri Schless, Nathalie Goemans, Kaat Desloovere, Marije Goudriaan, Guy Molenaers, Angela Nieuwenhuys

    المصدر: PLoS ONE, Vol 13, Iss 1, p e0191097 (2018)
    PLoS ONE

    مصطلحات موضوعية: Male, 030506 rehabilitation, Physiology, Knees, lcsh:Medicine, Walking, Knee Joints, Isometric exercise, 0302 clinical medicine, Gait (human), Medicine and Health Sciences, Child, lcsh:Science, Musculoskeletal System, Gait, Muscle Weakness, Multidisciplinary, Physics, Lower limb muscle weakness, Classical Mechanics, Physical Sciences, Legs, Female, Anatomy, medicine.symptom, Gait Analysis, 0305 other medical science, Research Article, Weakness, medicine.medical_specialty, Pelvis, Cerebral palsy, Motion, 03 medical and health sciences, Physical medicine and rehabilitation, medicine, Humans, Rank correlation, Hip, Biological Locomotion, business.industry, Cerebral Palsy, Limbs (Anatomy), lcsh:R, Ankles, Biology and Life Sciences, Reproducibility of Results, Muscle weakness, medicine.disease, body regions, Joints (Anatomy), Torque, Gait analysis, lcsh:Q, business, human activities, 030217 neurology & neurosurgery

    وصف الملف: Electronic-eCollection; application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::226ed4734cb408c7c693afdd0e979d7fTest
    https://lirias.kuleuven.be/handle/123456789/619692Test


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  8. 8
    Evaluation of serum MMP-9 as predictive biomarker for antisense therapy in Duchenne

    المؤلفون: S. de Kimpe, D. de Klerk, Monika Hiller, Jan J.G.M. Verschuuren, Annemieke Aartsma-Rus, R. Jean-Baptiste, Francesco Muntoni, Mar Tulinius, Afrodite Lourbakos, Peter Nilsson, Zaïda Koeks, K. Kozaczynska, G. Campion, Nathalie Goemans, Pietro Spitali, Burcu Ayoglu, Ron Wolterbeek, Vishna Devi Nadarajah, N. Yau, Peter A C 't Hoen, Erik H. Niks, Mojgan Reza, Hanns Lochmüller, P. de Bruijn, C. Al-Khalili Szigyarto, Irina Zaharieva

    المصدر: Scientific Reports
    Scientific Reports, 7
    Scientific Reports, Vol 7, Iss 1, Pp 1-10 (2017)

    مصطلحات موضوعية: 0301 basic medicine, Oncology, Adult, Male, medicine.medical_specialty, Adolescent, government.form_of_government, Duchenne muscular dystrophy, Placebo-controlled study, lcsh:Medicine, Muscle disorder, Article, Dystrophin, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Double-Blind Method, Internal medicine, Medicine, Humans, Longitudinal Studies, Muscular dystrophy, lcsh:Science, Child, Drisapersen, Randomized Controlled Trials as Topic, Antisense therapy, Multidisciplinary, biology, business.industry, lcsh:R, Exons, Oligonucleotides, Antisense, medicine.disease, Clinical trial, Muscular Dystrophy, Duchenne, 030104 developmental biology, Clinical Trials, Phase III as Topic, Matrix Metalloproteinase 9, Child, Preschool, government, biology.protein, lcsh:Q, Female, business, 030217 neurology & neurosurgery, Biomarkers

    وصف الملف: application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e00690df27119c632541d5bb3e76d3aTest
    https://hdl.handle.net/1887/115152Test


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  9. 9
    Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial

    المؤلفون: Janbernd Kirschner, S. Fontaine-Carbonnel, Giuseppe Vita, Enrico Bertini, François Rivier, Nathalie Goemans, W. Ludo van der Pol, Mariacristina Scoto, Brigitte Chabrol, Carole Vuillerot, Helen Roper, Alessandra Govoni, Maggie C. Walter, Jeppe Buchbjerg, Anna Lusakowska, Ulrike Schara, Eugenio Mercuri, Jean Louis Abitbol, Thomas Blaettler, Nicolas Deconinck, Michela Guglieri, Eduardo Vianna, Claudio Bruno, Jean Marie Cuisset, Francesco Muntoni, Carol Reid, Eric Dessaud, Hanns Lochmüller, Giacomo P. Comi, Brigitte Estournet, Patricia Sanwald Ducray, Carole André, Francesca Magri, Bruno Scherrer, Leonard H. van den Berg, Paulo Fontoura, Ksenija Gorni, Wolfgang Müller-Felber, Michèle Mayer

    المساهمون: Schara, Ulrike (Beitragende*r)

    مصطلحات موضوعية: 0301 basic medicine, Adult, Male, Pediatrics, medicine.medical_specialty, Adolescent, Population, Medizin, Phases of clinical research, Spinal Muscular Atrophies of Childhood, Placebo, law.invention, 03 medical and health sciences, chemistry.chemical_compound, Young Adult, Outcome Assessment (Health Care), 0302 clinical medicine, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Randomized controlled trial, Double-Blind Method, law, Outcome Assessment, Health Care, Clinical endpoint, medicine, Humans, Mobility Limitation, education, Adverse effect, Child, Preschool, Cholestenones, education.field_of_study, business.industry, Child, Preschool, Female, Neuroprotective Agents, Neurology (clinical), Clinical trial, 030104 developmental biology, chemistry, N/A, Olesoxime, business, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bad810ec4902101d89d04fe23c17c79Test
    http://hdl.handle.net/11570/3114831Test


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  10. 10
    RFT1‐CDG: Deafness as a novel feature of congenital disorders of glycosylation

    المؤلفون: Thierry Hennet, Wendy Vleugels, Luc Régal, Gert Matthijs, Jacques Jaeken, Nathalie Goemans, Carlo Dionisi-Vici, Micha A. Haeuptle, C Corchia, François Foulquier

    المساهمون: University of Zurich, Jaeken, J

    المصدر: Journal of Inherited Metabolic Disease. 32:335-338

    مصطلحات موضوعية: Lipopolysaccharides, Male, 2716 Genetics (clinical), congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Glycan, Glycosylation, Hearing loss, Hearing Loss, Sensorineural, 610 Medicine & health, Biology, medicine.disease_cause, Bioinformatics, 10052 Institute of Physiology, chemistry.chemical_compound, Congenital Disorders of Glycosylation, 1311 Genetics, Internal medicine, Genetics, medicine, Humans, Genetics (clinical), Mutation, Membrane Glycoproteins, Endoplasmic reticulum, Infant, Newborn, Infant, medicine.disease, Human genetics, carbohydrates (lipids), Endocrinology, chemistry, 10076 Center for Integrative Human Physiology, biology.protein, 570 Life sciences, biology, Female, lipids (amino acids, peptides, and proteins), medicine.symptom, Lipid glycosylation, Cutis laxa

    وصف الملف: RFT1_deafness_V.pdf - application/pdf; Jaeken_et_al_JIMD_2009.pdf - application/pdf

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7eff7a9e09423cac9cab4ce7c5e92016Test
    https://doi.org/10.1007/s10545-009-1297-3Test


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