المؤلفون: Hortense de Calbiac, Sebastian Montealegre, Marjolène Straube, Solène Renault, Hugo Debruge, Loïc Chentout, Sorana Ciura, Apolline Imbard, Edouard Le Guillou, Anca Marian, Nicolas Goudin, Laure Caccavelli, Sylvie Fabrega, Arnaud Hubas, Peter van Endert, Nicolas Dupont, Julien Diana, Edor Kabashi, Pascale de Lonlay

المصدر: Autophagy Reports, Vol 3, Iss 1 (2024)

مصطلحات موضوعية: Autophagy, calpeptin, myoblasts, rhabdomyolysis, TANGO2, zebrafish, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2769-4127

URL الوصول: https://doaj.org/article/4aa5bc2b72924f759db819530d580f6e

المؤلفون: Daniela Telehuz, Oana Plesa, Florence Bouilloud, Helene Wucher, Pascale De Lonlay, Claire-Marine Bérat, Cécile Saint-Martin, Olivier Dupuy, Jean-Baptiste Arnoux

المصدر: Frontiers in Endocrinology, Vol 15 (2024)

مصطلحات موضوعية: ABCC8, pasireotide, diazoxide-unresponsive, compound heterotozygosity, congenital hyperinsulinism (CHI), congenital hyperinsulinaemic hypoglycaemia, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2024.1408003/full; https://doaj.org/toc/1664-2392

URL الوصول: https://doaj.org/article/1c7e2938233d4116b61a925212aeb6de

المؤلفون: Bellanné-Chantelot Christine, Aigrain Yves, Robert Jean-Jacques, Fournet Jean-Christophe, Brunelle Francis, Valayannopoulos Vassili, Montravers Françoise, Brassier Anaïs, Saint-Martin Cécile, Verkarre Virginie, Arnoux Jean-Baptiste, de Lonlay Pascale

المصدر: Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 63 (2011)

مصطلحات موضوعية: Congenital hyperinsulinism (HI), 18F-fluoro-L-DOPA positon emission tomography, Medicine

وصف الملف: electronic resource

Relation: http://www.ojrd.com/content/6/1/63; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/0486195d0f5743c681e51db7f150d7bf

المؤلفون: Apolline Imbard, Juliette Bouchereau, Jean-Baptiste Arnoux, Anaïs Brassier, Manuel Schiff, Claire-Marine Bérat, Clément Pontoizeau, Jean-François Benoist, Constant Josse, François Montestruc, Pascale de Lonlay

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Ammonia, Arginine, Citrulline, Urea cycle disorders, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/c41e870d385f45a7bab71242c1c3248d

المؤلفون: Imbard, Apolline, de Calbiac, Hortense, Le Guillou, Edouard, Laforêt, Pascal, Schiff, Manuel, Brassier, Anaïs, Thevenet, Elise, Pontoizeau, Clément, Lefrère, Bertrand, Ottolenghi, Chris, Lebigot, Elise, Gaignard, Pauline, Gobin, Stéphanie, Acquaviva‐Bourdain, Cécile, Benoist, Jean‐François, Tuchmann‐Durand, Caroline, Legendre, Antoine, de Lonlay, Pascale

المساهمون: Ultragenyx Pharmaceutical, French Muscular Dystrophy Association, Agence Nationale de la Recherche

المصدر: Journal of Inherited Metabolic Disease ; volume 48, issue 1 ; ISSN 0141-8955 1573-2665

الاتاحة: https://doi.org/10.1002/jimd.12819
https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12819

المؤلفون: Mai Thao Bui, Gorka Fernández-Eulate, Teresinha Evangelista, Emmanuelle Lacène, Guy Brochier, Clémence Labasse, Angéline Madelaine, Anaïs Chanut, Maud Beuvin, Favienne Borsato-Levy, Valérie Biancalana, Giulia Barcia, Pascale De Lonlay, Jocelyn Laporte, Johann Böhm, Norma Beatriz Romero

المصدر: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-12 (2024)

مصطلحات موضوعية: Neuromuscular disorder, NMD, Muscle biopsy, Congenital myopathy, Metabolic myopathy, Electron microscopy, Neurology. Diseases of the nervous system, RC346-429

Relation: https://doi.org/10.1186/s40478-024-01882-0; https://doaj.org/toc/2051-5960; https://doaj.org/article/7f81ad2780f6454c9fe1d497af35e19b

الاتاحة: https://doi.org/10.1186/s40478-024-01882-0
https://doaj.org/article/7f81ad2780f6454c9fe1d497af35e19b

المؤلفون: Durin, Zoé, Raynor, Alexandre, Fenaille, François, Cholet, Sophie, Vuillaumier-Barrot, Sandrine, Alili, Jean-Meidi, Oussedik, Nouzha Djebrani, Tuchmann-Durand, Caroline, Attali, Jennifer, Touzé, Romain, Dupré, Thierry, Lebredonchel, Elodie, Akaffou, Marlyse Angah, Legrand, Dominique, de Lonlay, Pascale, Bruneel, Arnaud, Foulquier, Francois

المساهمون: Université de Lille, CNRS, Unité de Glycobiologie Structurale et Fonctionnelle (UGSF) - UMR 8576, AP-HP - Hôpital Bichat - Claude Bernard Paris, Université Paris Saclay (COmUE), Université Paris-Saclay, Assistance publique - Hôpitaux de Paris (AP-HP) AP-HP, Laboratoire de Toxicologie Biologique, Hôpital Lariboisière, Imagine - Institut des maladies génétiques (IHU) Imagine - U1163, Service d'ophtalmologie CHU Necker, Institut de médecine et d'épidémiologie appliquée AP-HP Hôpital Bichat-Claude Bernard IMEA, Université Paris-Sud - Paris 11 UP11, Unité de Glycobiologie Structurale et Fonctionnelle - UMR 8576 UGSF

مصطلحات موضوعية: Glycosylation, Golgi, Manganese, TMEM165, galactose

وصف الملف: application/rdf+xml; charset=utf-8; application/octet-stream

Relation: Translational Research; http://hdl.handle.net/20.500.12210/115269

الاتاحة: https://hdl.handle.net/20.500.12210/115269

المؤلفون: Posset, R., Garbade, S. F., Gleich, F., Gropman, A. L., De Lonlay, P., Hoffmann, G. F., Garcia-Cazorla, A., Nagamani, S. C. S., Baumgartner, M. R., Schulze, A., Dobbelaere, Dries, Yudkoff, M., Kölker, S., Zielonka, M.

المساهمون: Université de Lille, CHU Lille, Maladies RAres du DEveloppement embryonnaire et du MEtabolisme : du Phénotype au Génotype et à la Fonction - ULR 7364 RADEME

وصف الملف: application/octet-stream; application/rdf+xml; charset=utf-8; application/pdf

Relation: Scientific Reports; Sci Rep; http://hdl.handle.net/20.500.12210/115635

الاتاحة: https://hdl.handle.net/20.500.12210/115635

المؤلفون: Posset, Roland, Garbade, Sven F, Gleich, Florian, Gropman, Andrea L, de Lonlay, Pascale, Hoffmann, Georg F, Garcia-Cazorla, Angeles, Nagamani, Sandesh CS, Baumgartner, Matthias R, Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias, Urea Cycle Disorders Consortium (UCDC), European registry and network for Intoxication type Metabolic Diseases (E-IMD)

المصدر: Scientific reports. 10(1)

مصطلحات موضوعية: Urea Cycle Disorders Consortium, European registry and network for Intoxication type Metabolic Diseases

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/8s1446cg

المؤلفون: Rashid, T, Nemazanyy, I, Paolini, C, Tatsuta, T, Crespin, P, de Villeneuve, D, Brodesser, S, Benit, P, Rustin, P, Baraibar, MA, Agbulut, O, Olivier, A, Protasi, F, Langer, T, Chrast, R, de Lonlay, P, de Foucauld, H, Blaauw, B, Pende, M

المصدر: The EMBO journal. 38(1)

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:139982119

المؤلفون: Clément Pontoizeau, Marcelo Simon-Sola, Clovis Gaborit, Vincent Nguyen, Irina Rotaru, Nolan Tual, Pasqualina Colella, Muriel Girard, Maria-Grazia Biferi, Jean-Baptiste Arnoux, Agnès Rötig, Chris Ottolenghi, Pascale de Lonlay, Federico Mingozzi, Marina Cavazzana, Manuel Schiff

المصدر: Nature Communications, Vol 13, Iss 1, Pp 1-13 (2022)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/bccd1d42d05b472e924ee795b21fc179

المؤلفون: Bui, Mai Thao, Fernández-Eulate, Gorka, Evangelista, Teresinha, Lacène, Emmanuelle, Brochier, Guy, Labasse, Clémence, Madelaine, Angéline, Chanut, Anaïs, Beuvin, Maud, Borsato-Levy, Favienne, Biancalana, Valérie, Barcia, Giulia, De Lonlay, Pascale, Laporte, Jocelyn, Böhm, Johann, Romero, Norma Beatriz

المصدر: Acta Neuropathologica Communications; 12/20/2024, Vol. 12 Issue 1, p1-12, 12p

مصطلحات موضوعية: NEUROMUSCULAR diseases, MUSCULAR dystrophy, MYONEURAL junction, MOLECULAR diagnosis, MOTOR neurons

المؤلفون: Mollet, J, Giurgea, I, Schlemmer, D, Dallner, G, Chretien, D, Delahodde, A, Bacq, D, de Lonlay, P, Munnich, A, Rotig, A

المصدر: The Journal of clinical investigation. 117(3):765-772

مصطلحات موضوعية: Medicin och hälsovetenskap

URL الوصول: http://kipublications.ki.se/Default.aspx?queryparsed=id:12527013

المؤلفون: Posset, Roland, Garbade, Sven F, Boy, Nikolas, Burlina, Alberto B, Dionisi‐Vici, Carlo, Dobbelaere, Dries, Garcia‐Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L, Baumgartner, Matthias R, McCandless, Shawn E, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F, Kölker, Stefan, Burgard, Peter, Berry, Susan A, Burrage, Lindsay, Coughlin, Curtis, Diaz, George A, Gallagher, Renata C, Gropman, Andrea, Harding, Cary O, Lee, Brendan, Le Mons, Cynthia, Lawrence Merritt, J, Nagamani, Sandesh CS, Schulze, Andreas, Stricker, Tamar, Tuchman, Mendel, Waisbren, Susan, WeisfeldAdams, James, Wong, Derek, Yudkoff, Marc, Arnoux, JeanBaptiste, Barić, Ivo, Bosch, Annet M, Chabrol, Brigitte, Chakrapani, Anupam, CortèsSaladefont, Elisenda, Couce, Maria L, Eyskens, Francois, Laet, Corine, Meirleir, Linda, Freisinger, Peter, Gleich, Florian, Grünewald, Stephanie, Häberle, Johannes, Hwu, WuhLiang, Jalan, Anil, Karall, Daniela, Lindner, Martin, Lund, Allan M, Martinelli, Diego, Murphy, Elaine, Mühlhausen, Chris, Olivieri, Giorgia, Ottolenghi, Chris, Rodrigues, Esmeralda, Rubert, Laura, Sarajlija, Adrijan, Schiff, Manuel, Sokal, Etienne, SykutCegielska, Jolanta, Walter, John H, Williams, Monique, Zeman, Jiri

المصدر: Journal of Inherited Metabolic Disease. 42(1)

مصطلحات موضوعية: Clinical Research, Pediatric, Digestive Diseases, Neurodegenerative, 4.2 Evaluation of markers and technologies, Detection, screening and diagnosis, Good Health and Well Being, Cohort Studies, Data Analysis, Delayed Diagnosis, Europe, Female, Humans, Infant, Newborn, Male, Neonatal Screening, North America, Ornithine Carbamoyltransferase Deficiency Disease, Rare Diseases, Urea, Urea Cycle Disorders, Inborn, Urea cycle Disorders, international registry and database, diagnostic methods, Additional individual contributors of the UCDC and the E-IMD consortium, Clinical Sciences, Genetics & Heredity

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/5h73x4jb

المؤلفون: Jean-Meidi Alili, Marie-Pierre Berleur, Marie-Caroline Husson, Karine Mention, Manuel Schiff, Jean-Baptiste Arnoux, Anaïs Brassier, Anne-Sophie Guemman, Coraline Grisel, Sandrine Dubois, Marie-Thérèse Abi-Wardé, Christine Broissand, Aude Servais, Myriam Dao, Pascale de Lonlay

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)

مصطلحات موضوعية: Maple syrup urine disease, Decompensation, Treatment, Intravenous, Branched-chain amino acid-free formula, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/8f59208a49e64da6bb37d62f57cb423c

المؤلفون: Mochel, Fanny, Gras, Domitille, Luton, Marie-Pierre, Nizou, Manon, Giovannini, Donatella, Delattre, Caroline, Aubart, Mélodie, Barth, Magalie, de Saint-Martin, Anne, Doummar, Diane, Essid, Nouha, Garros, Alexa, Le Camus, Caroline Hachon, Hoebeke, Celia, The Tich, Sylvie Nguyen, Perivier, Maximilien, Rivera, Serge, Rolland, Anne, Roubertie, Agathe, Sarret, Catherine, Sevin, Caroline, Ville, Dorothée, Sitbon, Marc, Costa, Jean-Marc, Pons, Roser, Garcia-Cazorla, Angels, Vuillaumier, Sandrine, Petit, Vincent, Boespflug-Tanguy, Odile, de Vivo, Darryl, C, An, Isabelle, Bailly, Laurent, Bendetowicz, David, Charles, Perrine, Delorme, Cécile, Demeret, Sophie, Giron, Camille, Heide, Solveig, Heinzmann, Anna, Lalaude, Mathilde, Méneret, Aurélie, Mezouar, Nicolas, Monin, Marie-Lorraine, Mouthon, Linda, Roze, Emmanuel, Tarrano, Clément, Villain, Nicolas, Yazbeck, Elise, Auvin, Stéphane, Da Costa, Lydie, Dozières, Blandine, Portes, Vincent Des, Gokce-Samar, Zeynep, Panagiotakaki, Eleni, Souci, Sabrine, Toulouse, Joseph, Bellesme, Céline, Maurey, Hélène, Salah, Lucie, de Villemeur, Thierry Billette, Garzon, Pauline, Héron, Bénédicte, Isapof, Arnaud, Nougues, Marie-Christine, Ravelli, Claudia, Renaldo, Florence, Rodriguez, Diana, Valence, Stéphanie, Dangles, Marie-Thérèse, de Lonlay, Pascale, Desguerre, Isabelle, Durrleman, Chloé, Hully, Marie, Albertini, Francesca, Cano, Aline, Chabrol, Brigitte, Chavany, Julie, Kaphan, Elsa, Lagarde, Stanislas, Villeneuve, Nathalie, Avez-Couturier, Justine, Chaton, Laurence, Cuvellier, Jean-Christophe, Dehak, Rabha, Ballay, Florence Flamein, Floret, Valentine, Remérand, Ganaëlle, Abi Warde, Marie-Thérèse, Anheim, Mathieu, de Feraudy, Yvan, Gebus, Odile, Perriard, Caroline, Spitz, Marie-Aude, Khalil, Mirna, Tosi, Cécilia Marelli, Alvarez, Blanca Mercedes, Meyer, Pierre, Valle, Sarai Urtiaga, Canon, Mathilde, Ioos, Christine, Espil, Caroline, Husson, Marie, Goizet, Cyril, Michaud, Vincent, Pedespan, Jean-Michel, Damaj, Léna, Hadjadj, Sarah, Lavillaureix, Alinoë, Lepage, Jean-Marie, Ugolin, Mélissa, Froget, Rachel, Laroche, Cécile, Cancès, Claude, Salel, Yu Jin, Viguier, Agnès, Mazzola, Laure, Perrin, Laurine, Besson, Gérard, Dubois, Fanny, Lametery, Elodie, Jacquet, Coralie, de Pontual, Loïc, Castelnau, Pierre, Lagrue, Emmanuelle, Gibaud, Marc, Chouchane, Mondher, Darmency, Véronique, Fatus, Clémence Fauconnier, Bilbault, Claire, Cullier, Anne Charlotte, Mekary, Jacinthe, Touhami, Jawida, Baer, Marie-Elodie, Litou, Nadine, Samaan, Simon, Béesau, Christophe, Bitaudeau, Floriane, Cousin, Christelle, Desport, Elodie, Djouadi, Lynda, Hamadi, Yasmine, Lebreton, Emeline, Moriceau, Sandra

المساهمون: Institut du Cerveau = Paris Brain Institute (ICM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Maladies neurodéveloppementales et neurovasculaires (NeuroDiderot (UMR_S_1141 / U1141)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), METAFORA Biosystems, Institut de Génétique Moléculaire de Montpellier (IGMM), Centre National de la Recherche Scientifique (CNRS)-Université de Montpellier (UM), Hôpital Necker - Enfants Malades AP-HP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Service de génétique Angers, Université d'Angers (UA)-Centre Hospitalier Universitaire d'Angers (CHU Angers), PRES Université Nantes Angers Le Mans (UNAM)-PRES Université Nantes Angers Le Mans (UNAM), Hôpital de Hautepierre Strasbourg, CHU Trousseau APHP, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), Hôpital Raymond Poincaré (Garches) GHU AP-HP Université Paris-Saclay, Centre Hospitalier Universitaire CHU Grenoble (CHUGA), Département Neurologie CHU Toulouse, Pôle Neurosciences CHU Toulouse, Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Service de pédiatrie spécialisée et médecine infantile (neurologie, pneumologie, maladies héréditaires du métabolisme) Hôpital de la Timone - APHM, Hôpital de la Timone CHU - APHM (TIMONE), Hôpital Roger Salengro Lille, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre Hospitalier de la Côte Basque (CHCB), Centre Hospitalier Universitaire de Nantes = Nantes University Hospital (CHU Nantes), Institut des Neurosciences de Montpellier (INM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Montpellier (UM), CIC Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Hôpital Saint Eloi CHU Montpellier, Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Estaing Clermont-Ferrand, CHU Clermont-Ferrand, Hôpital Bicêtre AP-HP, Le Kremlin-Bicêtre, Centre Hospitalier Lyon Sud CHU - HCL (CHLS), Hospices Civils de Lyon (HCL), Laboratoire CERBA Saint Ouen l'Aumône, Aghia Sofia Children's Hospital, Hospital Sant Joan de Déu Barcelona, AP-HP - Hôpital Bichat - Claude Bernard Paris, Service de neuropédiatrie et maladies métaboliques CHU Robert-Debré, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, Columbia University Irving Medical Center (CUIMC), CHU Pitié-Salpêtrière AP-HP, This study was supported by French Health Authorities, through the Forfait Innovation, and has received funding from the European Union’s Horizon 2020 research and innovation programme under grant agreement No 806038.

المصدر: ISSN: 0028-3878.

مصطلحات موضوعية: [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology

Relation: info:eu-repo/semantics/altIdentifier/pmid/37076312; PUBMED: 37076312; PUBMEDCENTRAL: PMC10256121

الاتاحة: https://hal.science/hal-04347222
https://hal.science/hal-04347222v1/document
https://hal.science/hal-04347222v1/file/WNL-2023-000173.pdf
https://doi.org/10.1212/WNL.0000000000207296

المؤلفون: Cabrera-Serrano, Macarena, Caccavelli, Laure, Savarese, Marco, Vihola, Anna, Jokela, Manu, Johari, Mridul, Capiod, Thierry, Madrange, Marine, Bugiardini, Enrico, Brady, Stefen, Quinlivan, Rosaline, Merve, Ashirwad, Scalco, Renata, Hilton-Jones, David, Houlden, Henry, Aydin, Halil Ibrahim, Ceylaner, Serdar, Drewes, Sarah, Vockley, Jerry, Taylor, Rhonda L., Folland, Chiara, Kelly, Aasta, Goullee, Hayley, Ylikallio, Emil, Auranen, Mari, Tyynismaa, Henna, Udd, Bjarne, Forrest, Alistair R. R., Davis, Mark R., Bratkovic, Drago, Manton, Nicholas, Robertson, Thomas, O'Gorman, Cullen, McCombe, Pamela, Laing, Nigel G., Phillips, Liza, de Lonlay, Pascale, Ravenscroft, Gianina

المساهمون: Medicum, Department of Medical and Clinical Genetics, University of Helsinki, STEMM - Stem Cells and Metabolism Research Program, HUS Neurocenter, Neurologian yksikkö, Clinicum, Centre of Excellence in Stem Cell Metabolism, Research Programs Unit, Henna Tyynismaa / Principal Investigator, Neuroscience Center, Helsinki Institute of Life Science HiLIFE

مصطلحات موضوعية: rhabdomyolysis, hyperCKaemia, myalgia, exercise intolerance, obscurin, SARCOPLASMIC-RETICULUM, MUSCULAR-DYSTROPHY, MUSCLE, GENE, LINE, MUTATIONS, ISOFORM, Neurosciences, Neurology and psychiatry

وصف الملف: application/pdf

Relation: This work is supported by Australian National Health and Medical Research Council (NHMRC) grants (APP1080587, APP1146321 and APP2002640) to G.R., A.R.R.F. and N.G.L. G.R. is supported by an NHMRC Career Development Fellowship (APP1122952) and N.G.L. and A.R.R.F. are supported by NHMRC Senior Research Fellowships (APP1117510, APP1154524). This work was also supported by the Academy of Finland Neurogenomics pHealth funding. This work was supported by grants to PdL from Fondation maladies rares, Agence Nationale de la Recherche (ANR -AAPG 2018 CE17 MetabInf), the Association Francaise contre les Myopathies (AFM 2016-2018 19773), and patient associations (Nos Anges, AMMI, OPPH, TANGO2 family associations, Hyperinsulinisme).; Cabrera-Serrano , M , Caccavelli , L , Savarese , M , Vihola , A , Jokela , M , Johari , M , Capiod , T , Madrange , M , Bugiardini , E , Brady , S , Quinlivan , R , Merve , A , Scalco , R , Hilton-Jones , D , Houlden , H , Aydin , H I , Ceylaner , S , Drewes , S , Vockley , J , Taylor , R L , Folland , C , Kelly , A , Goullee , H , Ylikallio , E , Auranen , M , Tyynismaa , H , Udd , B , Forrest , A R R , Davis , M R , Bratkovic , D , Manton , N , Robertson , T , O'Gorman , C , McCombe , P , Laing , N G , Phillips , L , de Lonlay , P & Ravenscroft , G 2022 , ' Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis ' , Brain : a journal of neurology , vol. 145 , no. 11 , pp. 3985–3998 . https://doi.org/10.1093/brain/awab484; ORCID: /0000-0002-2493-2422/work/127503131; ORCID: /0000-0001-5178-0703/work/127504786; ORCID: /0000-0002-2591-244X/work/127509077; ORCID: /0000-0002-3549-558X/work/127509789; http://hdl.handle.net/10138/353498; 90354baf-2a07-4e1a-9ef5-adfb87049c0e; 000839569500001

الاتاحة: http://hdl.handle.net/10138/353498

المؤلفون: GARDIN, Antoine, CASTELLE, Martin, PICHARD, Samia, CANO, Aline, CHABROL, Brigitte, PIARROUX, Julie, ROUBERTIE, Agathe, NADJAR, Yann, GUEMANN, Anne-Sophie, TARDIEU, Marine, LACOMBE, Didier, ROBERT, Matthieu P, CAILLAUD, Catherine, FROISSART, Roseline, LEBOEUF, Virginie, BARBIER, Valérie, BOUCHEREAU, Juliette, SCHIFF, Manuel, FAUROUX, Brigitte, THIERRY, Briac, LUSCAN, Romain, JAMES, Syril, DE SAINT-DENIS, Timothée, PANNIER, Stéphanie, GITIAUX, Cyril, VERGNAUD, Estelle, BODDAERT, Nathalie, LASCOURREGES, Claire, LEMOINE, Michel, BONNET, Damien, BLANCHE, Stéphane, DALLE, Jean-Hugues, NEVEN, Bénédicte, DE LONLAY, Pascale, BRASSIER, Anaïs

مصطلحات موضوعية: Adult, Humans, Mucopolysaccharidosis I, Follow-Up Studies, Retrospective Studies, Hematopoietic Stem Cell Transplantation, Genetic Therapy, Iduronidase, Sciences du Vivant [q-bio]

Relation: https://oskar-bordeaux.fr/handle/20.500.12278/184567

الاتاحة: https://oskar-bordeaux.fr/handle/20.500.12278/184567
https://hdl.handle.net/20.500.12278/184567
https://doi.org/10.1038/s41409-022-01886-1

المؤلفون: Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev

المصدر: Life; Volume 13; Issue 2; Pages: 445

مصطلحات موضوعية: mitochondrial disease, ELAC2, RNA processing, cardiomyopathy, neurological disease

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Physiology and Pathology; https://dx.doi.org/10.3390/life13020445

الاتاحة: https://doi.org/10.3390/life13020445

المؤلفون: Perrine Renard, Laure Caccavelli, Antoine Legendre, Caroline Tuchmann-Durand, David Balakirouchenane, Benoit Blanchet, Céline Narjoz, Marjolène Straube, Arnaud Hubas, Alexa Garros, Karine Mention, Nathalie Bednarek, Nicolas Goudin, Christine Broissand, Joel Schlatter, Salvatore Cisternino, Nicolas Cagnard, Peter van Endert, Julien Diana, Hortense de Calbiac, Pascale de Lonlay

المصدر: Biomedicine & Pharmacotherapy, Vol 163, Iss , Pp 114813- (2023)

مصطلحات موضوعية: LPIN1, Hydroxychloroquine, Autophagy, Oxidative stress, Treatment, Therapeutics. Pharmacology, RM1-950

Relation: http://www.sciencedirect.com/science/article/pii/S0753332223006030; https://doaj.org/toc/0753-3322; https://doaj.org/article/8c594fbdadea4b608bc7cda8871f7a16

الاتاحة: https://doi.org/10.1016/j.biopha.2023.114813
https://doaj.org/article/8c594fbdadea4b608bc7cda8871f7a16