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Auteur Servais L |
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Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases
Reyngoudt H, Marty B, Boisserie JM, et al.
European radiology, 2020
Revue : European radiology Titre : Global versus individual muscle segmentation to assess quantitative MRI-based fat fraction changes in neuromuscular diseases Type de document : Article Auteurs : Reyngoudt H ; Marty B ; Boisserie JM ; Le Louër J ; Koumako C ; Baudin PY ; Wong B ; Stojkovic T ; Behin A ; Gidaro T ; Allenbach Y ; Benveniste O ; Servais L ; Carlier PG Editeur : Germany Année de publication : 21/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33219846 / DOI : 10.1007/s00330-020-07487-0
N° Profil MNM : 2020112 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33219846 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Very low residual dystrophin quantity is associated with milder dystrophinopathy
de Feraudy Y, Yaou RB, Wahbi K, et al.
Annals of neurology, 2020
Revue : Annals of neurology Titre : Very low residual dystrophin quantity is associated with milder dystrophinopathy Type de document : Article Auteurs : de Feraudy Y ; Yaou RB ; Wahbi K ; Stalens C ; Stantzou A ; Laugel V ; Desguerre I ; Servais L ; Leturcq F ; Amthor H Editeur : United States Année de publication : 07/11/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 33159473 / DOI : 10.1002/ana.25951
N° Profil MNM : 2020111 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/33159473 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al
Dangouloff T, Boemer F, Caberg JH, et al.
Genetics in medicine : official journal of the American College of Medical Genetics, 2020
Revue : Genetics in medicine : official journal of the American College of Medical Genetics Titre : Correspondence on: "Discrepancy in Spinal Muscular Atrophy Incidence findings in newborn screening programs: the influence of carrier screening?" by Kay et al Type de document : Article Auteurs : Dangouloff T ; Boemer F ; Caberg JH ; Servais L Editeur : United States Année de publication : 06/2020 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32601389 / DOI : 10.1038/s41436-020-0887-1
N° Profil MNM : 2020062 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32601389 Voir aussiAvis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients
Koch C, Buono S, Menuet A, et al.
Molecular therapy. Methods & clinical development, 2020, 17, p 1178
Revue : Molecular therapy. Methods & clinical development, 17 Titre : Myostatin: a Circulating Biomarker Correlating with Disease in Myotubular Myopathy Mice and Patients Type de document : Article Auteurs : Koch C ; Buono S ; Menuet A ; Robe A ; Djeddi S ; Kretz C ; Gomez-Oca R ; Depla M ; Monseur A ; Thielemans L ; Servais L ; Laporte J ; Cowling BS Année de publication : 05/2020 Pages : p 1178 Langues : Anglais (eng) Pubmed / DOI : Pubmed : 32514412 / DOI : 10.1016/j.omtm.2020.04.022
N° Profil MNM : 2020061 En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32514412 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
Frank DE, Schnell FJ, Akana C, et al.
Neurology, 2020, 94, 21, e2270
Revue : Neurology, 94, 21 Titre : Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy Type de document : Article Auteurs : Frank DE ; Schnell FJ ; Akana C ; El-Husayni SH ; Desjardins CA ; Morgan J ; Charleston JS ; Sardone V ; Domingos J ; Dickson G ; Straub V ; Guglieri M ; Mercuri E ; Servais L ; Muntoni F Année de publication : 05/2020 Pages : e2270 Langues : Anglais (eng) Lien associé : Texte complet disponible sur PubMed Central® (PMC) Pubmed / DOI : Pubmed : 32139505 / DOI : 10.1212/WNL.0000000000009233
En ligne : http://www.ncbi.nlm.nih.gov/pubmed/32139505 Avis des lecteurs Aucun avis, ajoutez le vôtre !
(mauvais) 15 (excellent)
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Spinal muscular atrophy care in the COVID-19 pandemic era
Veerapandiyan A, Connolly AM, Finkel RS, et al.
Muscle & Nerve, 2020
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Randomisation versus prioritisation in a managed access programme: Lessons from spinal muscular atrophy
Servais L, Kirschner J, Muntoni F
Neuromuscular disorders : NMD, 2020, 30, 4, p 267
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Normalized grip strength is a sensitive outcome measure through all stages of Duchenne muscular dystrophy
Hogrel JY, Decostre V, Ledoux I, et al.
Journal of neurology, 2020
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New treatments in spinal muscular atrophy: an overview of currently available data
Ramdas S, Servais L
Expert opinion on pharmacotherapy, 2020, 21, 3, p 307
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RESTORE: A Prospective Multinational Registry of Patients with Genetically Confirmed Spinal Muscular Atrophy - Rationale and Study Design
Finkel RS, Day JW, de Vivo DC, et al.
Journal of Neuromuscular Diseases, 2020
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European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy
Kirschner J, Butoianu N, Goemans N, et al.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society, 2020
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Quantitative nuclear magnetic resonance imaging detects subclinical changes over 1 year in skeletal muscle of GNE myopathy
Gidaro T, Reyngoudt H, Le Louër J, et al.
Journal of neurology, 2020, 267, 1, p 228
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Use of the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) in X-Linked Myotubular Myopathy: Content Validity and Psychometric Performance
Duong T, Harding G, Mannix S, et al.
Journal of Neuromuscular Diseases, 2020
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Reader response: Discrepancy in redetermination of SMN2 copy numbers in children with SMA
Dangouloff T, Boemer F, Dideberg V, et al.
Neurology, 2020, 95, 3, p 144
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250th ENMC International Workshop: Clinical trial readiness in nemaline myopathy 6-8 September 2019, Hoofdorp, the Netherlands
Neuhaus SB, Wallgren-Pettersson C, BÃ nnemann CG, et al.
Neuromuscular disorders : NMD, 2020
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Relationship between markers of disease activity and progression in skeletal muscle of GNE myopathy patients using quantitative nuclear magnetic resonance imaging and (31)P nuclear magnetic resonance spectroscopy
Reyngoudt H, Marty B, Caldas de Almeida Araujo E, et al.
Quantitative imaging in medicine and surgery, 2020, 10, 7, p 1450
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miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy
Sanson M, Vu Hong A, Massouridès E, et al.
Scientific Reports, 2020, 10, 1, p 9139
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ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Villar-Quiles RN, Catervi F, Cabet E, et al.
Annals of neurology, 2019
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Sitting in patients with spinal muscular atrophy type 1 treated with nusinersen
Aragon-Gawinska K, Daron A, Ulinici A, et al.
Developmental medicine and child neurology, 2019
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244th ENMC international workshop: Newborn screening in spinal muscular atrophy May 10-12, 2019, Hoofdorp, The Netherlands
Dangouloff T, Burghes A, Tizzano EF, et al.
Neuromuscular disorders : NMD, 2019
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Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy
Servais L, Straathof CSM, Schara U, et al.
Neuromuscular disorders : NMD, 2019
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Clinical Evidence Supporting Early Treatment Of Patients With Spinal Muscular Atrophy: Current Perspectives
Dangouloff T, Servais L
Therapeutics and clinical risk management, 2019, 15, p 1153
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[(S)un (M)ay (A)rise on SMA : the hope of a region without spinal muscular atrophy]
Boemer F, Caberg JH, Dideberg V, et al.
Revue médicale de Liège, 2019, 74, 9, p 461
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Home-Based Monitor for Gait and Activity Analysis
Lilien C, Gasnier E, Gidaro T, et al.
Journal of visualized experiments : JoVE, 2019, n 150
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Newborn screening for SMA in Southern Belgium
Boemer F, Caberg JH, Dideberg V, et al.
Neuromuscular disorders : NMD, 2019, 29, 5, p 343
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