نتائج البحث - "Nathalie Goemans"

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

2

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

3

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

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

4

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

5

Renal function in children and adolescents with Duchenne muscular dystrophy

المؤلفون: Elke Braat, Olivier Gheysens, Karolien Goffin, Hans Pottel, Liesbeth De Waele, Pieter Vermeersch, Liesbeth Hoste, Nathalie Goemans, Elena Levtchenko

المصدر: Neuromuscular disorders : NMD. 25(5)

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::907266d16867e2fc5f5226e18568d122Test
https://pubmed.ncbi.nlm.nih.gov/25683700Test

6

Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

المساهمون: Rehabilitation medicine

المصدر: Neuromuscular disorders, 24(4), 347-352. Elsevier Limited

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d95506d1fefb8c6b6a0a83364012810Test
https://pure.amc.nl/en/publications/hammersmith-functional-motor-scale-and-motor-function-measure20-in-non-ambulant-sma-patientsTest(17d8de57-b28c-4c10-9795-e545edae92e1).html

7

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

المؤلفون: Fransiska Malfait, Anne De Paepe, Sheela Nampoothiri, Yolanda Gyftodimou, Vanesa López-González, Michael B. Petersen, Nathalie Goemans, Geert Mortier, Sofie Symoens, Eva Holmberg

المصدر: Orphanet journal of rare diseases
Malfait, F, Symoens, S, Goemans, N, Gyftodimou, Y, Holmberg, E, López-González, V, Mortier, G, Nampoothiri, S, Petersen, M B & De Paepe, A 2013, ' Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome ', Orphanet Journal of Rare Diseases, vol. 8, pp. 78 . https://doi.org/10.1186/1750-1172-8-78Test
Orphanet Journal of Rare Diseases
ORPHANET JOURNAL OF RARE DISEASES

مصطلحات موضوعية: Male, COL1A2, ADULTHOOD, DOMAIN, Arterial fragility, Medicine and Health Sciences, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), ARTHROCHALASIA TYPE, Fibrillogenesis, Procollagen N-Endopeptidase, Overlap syndrome, General Medicine, Osteogenesis Imperfecta, Phenotype, Osteogenesis imperfecta, END, Female, medicine.symptom, Type I collagen, Procollagen, Adult, medicine.medical_specialty, Genotype, PROCOLLAGEN N-PROTEINASE, Short stature, Collagen Type I, Internal medicine, medicine, Humans, business.industry, Research, Biology and Life Sciences, medicine.disease, GENE, VIIA, Peptide Fragments, Collagen Type I, alpha 1 Chain, Procollagen peptidase, Endocrinology, DEFECT, Ehlers–Danlos syndrome, Mutation, CHAIN, Ehlers-Danlos Syndrome, Human medicine, business

وصف الملف: pdf; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fca3d0d8c88ea8ee888d4486667a3888Test
https://hdl.handle.net/10067/1090000151162165141Test

8

Six minute walk test in type III spinal muscular atrophy: a 12month longitudinal study

المساهمون: Neurology

المصدر: Neuromuscular disorders, 23(8), 624-628. Elsevier Limited

مصطلحات موضوعية: Adult, Male, Longitudinal study, Pediatrics, medicine.medical_specialty, SIX MINUTE WALK, Type III Spinal Muscular Atrophy, Adolescent, Adult, Analysis of Variance, Atrophy, Child, Child, Preschool, Exercise Test, Exercise Therapy, methods, Female, Humans, International Cooperation, Longitudinal Studies, Male, Middle Aged, Outcome Assessment (Health Care), Spinal Muscular Atrophies of Childhood, etiology/rehabilitation, Walking, Young Adult, Adolescent, International Cooperation, Walking, Spinal Muscular Atrophies of Childhood, Outcome measures, methods, Outcome Assessment (Health Care), Young Adult, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Atrophy, 6MWT, Outcome Assessment, Health Care, medicine, Humans, Longitudinal Studies, Young adult, Preschool, Child, Genetics (clinical), Analysis of Variance, business.industry, Spinal muscular atrophy, Middle Aged, medicine.disease, SMA, Exercise Therapy, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Cohort, Exercise Test, Physical therapy, Female, Neurology (clinical), Analysis of variance, business, etiology/rehabilitation

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c28b0885e826eef9c20cfb90fb33370aTest
https://pure.amc.nl/en/publications/six-minute-walk-test-in-type-iii-spinal-muscular-atrophy-a-12month-longitudinal-studyTest(46d0387e-3610-415d-b857-1ee944de2dcd).html

9

Activity limitations in patients with neuromuscular disorders: a responsiveness study of the ACTIVLIM questionnaire

المؤلفون: Nathalie Goemans, Jean-Louis Thonnard, Peter Van den Bergh, Laure Vandervelde

المساهمون: UCL - (SLuc) Service de mÃ©decine physique et de rÃ©adaptation motrice, UCL - MD/IEPR - Institut d'éducation physique et de réadaptation, UCL - MD/NOPS - Département de neurologie et de psychiatrie, UCL - (SLuc) Service de neurologie

المصدر: Neuromuscular Disorders, Vol. 19, no. 2, p. 99-103 (2009)

مصطلحات موضوعية: Questionnaires, Adult, Male, medicine.medical_specialty, Activities of daily living, Adolescent, Duchenne muscular dystrophy, Myotonic dystrophy, Disability Evaluation, Young Adult, Charcot-Marie-Tooth Disease, Predictive Value of Tests, Surveys and Questionnaires, Activities of Daily Living, medicine, Humans, Myotonic Dystrophy, Young adult, Muscular dystrophy, Child, Genetics (clinical), Gait Disorders, Neurologic, Paresis, Aged, Aged, 80 and over, Muscle Weakness, business.industry, Muscle weakness, Neuromuscular Diseases, Middle Aged, medicine.disease, Muscular Dystrophy, Duchenne, Neurology, Predictive value of tests, Pediatrics, Perinatology and Child Health, Physical therapy, Disease Progression, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83d2476af9af619ab197ad1f8fb08349Test
https://pubmed.ncbi.nlm.nih.gov/19167889Test

10

Patterns of disease progression in type 2 and 3 SMA: Implications for clinical trials

المصدر: ResearcherID
Neuromuscular Disorders

مصطلحات موضوعية: 0301 basic medicine, Male, Hammersmith Functional Motor Scale, Outcome measures, Spinal muscular atrophy, Neurology (clinical), Pediatrics, Perinatology and Child Health, Genetics (clinical), Neurology, 030105 genetics & heredity, Spinal Muscular Atrophies of Childhood, Pediatrics, 0302 clinical medicine, Adolescent, Adult, Child, Child, Preschool, Clinical Trials as Topic, Female, Humans, Middle Aged, Retrospective Studies, Young Adult, Disease Progression, Mobility Limitation, Medicine, Genetics(clinical), Young adult, Baseline values, Perinatology and Child Health, SMA, medicine.medical_specialty, Clinical Neurology, Article, 03 medical and health sciences, Settore MED/39 - NEUROPSICHIATRIA INFANTILE, Age groups, Internal medicine, Pediatrics, Perinatology, and Child Health, Preschool, business.industry, Disease progression, Retrospective cohort study, Large cohort, Clinical trial, Physical therapy, business, 030217 neurology & neurosurgery

وصف الملف: Print-Electronic

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7de36f9185eac12b7798ae31114a395fTest
http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=ORCID&SrcApp=OrcidOrg&DestLinkType=FullRecord&DestApp=WOS_CPL&KeyUT=WOS:000371652100002&KeyUID=WOS:000371652100002Test

تنقيح النتائج