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Structure: Internal structure identifier : 345487

Pathologies musculaires liées à la titine - Un domaine en émergence

A Ferreiro , Ja Urtizberea
médecine/sciences, 2017, 33, pp.16-26. ⟨10.1051/medsci/201733s104⟩
Journal articles hal-03108264v1
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A study of voice and non-voice processing in Prader-Willi syndrome

Kuzma Strelnikov , Jimmy Debladis , Juliette Salles , Marion Valette , Carine Mantoulan et al.
Orphanet Journal of Rare Diseases, 2020, 15, pp.22. ⟨10.1186/s13023-020-1298-8⟩
Journal articles hal-03093987v1
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Patients with PWS and related syndromes display differentially methylated regions involved in neurodevelopmental and nutritional trajectory

Juliette Salles , Sanaa Eddiry , Emmanuelle Lacassagne , Virginie Laurier , Catherine Molinas et al.
Clinical Epigenetics, 2021, 13 (1), pp.159. ⟨10.1186/s13148-021-01143-0⟩
Journal articles hal-03764415v1

Orosensory Perception of Fat/Sweet Stimuli and Appetite-Regulating Peptides before and after Sleeve Gastrectomy or Gastric Bypass in Adult Women with Obesity

Arnaud Bernard , Johanne Le Beyec-Le Bihan , Loredana Radoï , Muriel Coupaye , Ouidad Sami et al.
Nutrients, 2021, Special Issue: The Effect of Bariatric Surgery on Food and Taste Preferences Contributing to Weight Loss, 13 (3), pp.878. ⟨10.3390/nu13030878⟩
Journal articles hal-03764505v1
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Face processing and exploration of social signals in Prader-Willi syndrome

Jimmy Debladis , Marion Valette , Kuzma Strenilkov , Carine Mantoulan , Denise Thuilleaux et al.
Orphanet Journal of Rare Diseases, 2019, 14, ⟨10.1186/s13023-019-1221-3⟩
Journal articles hal-03093995v1
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Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients

Alice Clerc , Muriel Coupaye , Héléna Mosbah , Graziella Pinto , Virginie Laurier et al.
Journal of Clinical Medicine, 2021, 10 (22), pp.5310. ⟨10.3390/jcm10225310⟩
Journal articles hal-03457276v1
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Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Rocío Villar-Quiles , Sandra Donkevoort , Alix de Becdelievre , Corine Gartioux , Valérie Jobic et al.
Journal of Neuromuscular Diseases, 2021, 8 (4), pp.633-645. ⟨10.3233/JND-200577⟩
Journal articles hal-03244986v1
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Oxytocin may be useful to increase trust in others and decrease disruptive behaviours in patients with Prader-Willi syndrome: a randomised placebo-controlled trial in 24 patients.

Maïthé Tauber , Carine Mantoulan , Pierre Copet , Joseba Jauregui , Genevieve Demeer et al.
Orphanet Journal of Rare Diseases, 2011, 6 (1), pp.47. ⟨10.1186/1750-1172-6-47⟩
Journal articles inserm-00663634v1
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High-Throughput Digital Image Analysis Reveals Distinct Patterns of Dystrophin Expression in Dystrophinopathy Patients

Silvia Torelli , Domenic Scaglioni , Valentina Sardone , Matthew J Ellis , Joana Domingos et al.
Journal of Neuropathology and Experimental Neurology, 2021, 80 (10), pp.955 - 965. ⟨10.1093/jnen/nlab088⟩
Journal articles hal-03454233v1

Deficits in voice and multisensory processing in patients with Prader-Willi syndrome

Juliette Salles , Kuzma Strelnikov , Mantoulan Carine , Thuilleaux Denise , Virginie Laurier et al.
Neuropsychologia, 2016, 85, pp.137--147. ⟨10.1016/j.neuropsychologia.2016.03.015⟩
Journal articles hal-02344873v1

Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies

Rocío Villar-Quiles , Sandra Donkervoort , Alix de Becdelièvre , Corine Gartioux , Valérie Jobic et al.
Journal of Neuromuscular Diseases, 2021, 8 (4), pp.633-645. ⟨10.3233/JND-200577⟩
Journal articles hal-04008072v1