المؤلفون: Pierre-François Pradat, Emilien Bernard, Philippe Corcia, Philippe Couratier, Christel Jublanc, Giorgia Querin, Capucine Morélot Panzini, François Salachas, Christophe Vial, Karim Wahbi, Peter Bede, Claude Desnuelle, on behalf of the French Kennedy’s Disease Writing Group

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-21 (2020)

مصطلحات موضوعية: Kennedy disease, Spinal and bulbar muscular atrophy, Guidelines, Polyglutamine, Androgen receptor, Androgen insensitivity, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-020-01366-zTest; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/53385653b6f54dc88c82f8af909bb4bcTest

المؤلفون: Barry J. Byrne, Tarekegn Geberhiwot, Bruce A. Barshop, Richard Barohn, Derralynn Hughes, Drago Bratkovic, Claude Desnuelle, Pascal Laforet, Eugen Mengel, Mark Roberts, Peter Haroldsen, Kristin Reilley, Kala Jayaram, Ke Yang, Liron Walsh, on behalf of the POM-001/002 Investigators

المصدر: Orphanet Journal of Rare Diseases, Vol 12, Iss 1, Pp 1-10 (2017)

مصطلحات موضوعية: Reveglucosidase alfa, Late-onset Pompe disease, Enzyme replacement therapy, Pharmacokinetics, Safety, Efficacy, Medicine

وصف الملف: electronic resource

العلاقة: http://link.springer.com/article/10.1186/s13023-017-0693-2Test; https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/0f42cc539c044d06b2948b37cb169a2eTest

المؤلفون: Celine Dogan, Marie De Antonio, Dalil Hamroun, Hugo Varet, Marianne Fabbro, Felix Rougier, Khadija Amarof, Marie-Christine Arne Bes, Anne-Laure Bedat-Millet, Anthony Behin, Remi Bellance, Françoise Bouhour, Celia Boutte, François Boyer, Emmanuelle Campana-Salort, Françoise Chapon, Pascal Cintas, Claude Desnuelle, Romain Deschamps, Valerie Drouin-Garraud, Xavier Ferrer, Helene Gervais-Bernard, Karima Ghorab, Pascal Laforet, Armelle Magot, Laurent Magy, Dominique Menard, Marie-Christine Minot, Aleksandra Nadaj-Pakleza, Sybille Pellieux, Yann Pereon, Marguerite Preudhomme, Jean Pouget, Sabrina Sacconi, Guilhem Sole, Tanya Stojkovich, Vincent Tiffreau, Andoni Urtizberea, Christophe Vial, Fabien Zagnoli, Gilbert Caranhac, Claude Bourlier, Gerard Riviere, Alain Geille, Romain K Gherardi, Bruno Eymard, Jack Puymirat, Sandrine Katsahian, Guillaume Bassez

المصدر: PLoS ONE, Vol 11, Iss 2, p e0148264 (2016)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC4744025?pdf=renderTest; https://doaj.org/toc/1932-6203Test

الوصول الحر: https://doaj.org/article/cf83b8ab743c4b25aa7cfa3285289205Test

المؤلفون: Alexandre Ottaviani, Sylvie Rival-Gervier, Amina Boussouar, Andrea M Foerster, Delphine Rondier, Sabrina Sacconi, Claude Desnuelle, Eric Gilson, Frédérique Magdinier

المصدر: PLoS Genetics, Vol 5, Iss 2, p e1000394 (2009)

مصطلحات موضوعية: Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: http://europepmc.org/articles/PMC2639723?pdf=renderTest; https://doaj.org/toc/1553-7390Test; https://doaj.org/toc/1553-7404Test

الوصول الحر: https://doaj.org/article/0c28e3ecf45846b1816eff4562df3c98Test

المؤلفون: Eric Hachulla, Gwendal Le Masson, Guilhem Solé, Mohamed Hamidou, Claude Desnuelle, Jean-Philippe Azulay, Gérard Besson, Laure Swiader, Sébastien Abad, Jean-Christophe Antoine, Françoise Bouhour, Alain Créange, Marike Grenouillet, Laurent Magy, Sébastien Marcel, Jean-Michel Paquet, François Rouhart, François Ziegler, Stéphane Mathis, Marc Gauthier-Darnis, Sophie Puget

المصدر: BioMed Research International, Vol 2018 (2018)

مصطلحات موضوعية: Medicine

العلاقة: http://dx.doi.org/10.1155/2018/8147251Test; https://doaj.org/toc/2314-6133Test; https://doaj.org/toc/2314-6141Test; https://doaj.org/article/6cf4e69675a34e2f9334153ccbba4d1fTest

الإتاحة: https://doi.org/10.1155/2018/8147251Test
https://doaj.org/article/6cf4e69675a34e2f9334153ccbba4d1fTest

المؤلفون: Tessa Kliest, Ruben P.A. Van Eijk, Ammar Al-Chalabi, Alberto Albanese, Peter M. Andersen, Maria Del Mar Amador, Geir BrÅthen, Veronique Brunaud-Danel, Lev Brylev, William Camu, Mamede De Carvalho, Cristina Cereda, Hakan Cetin, Delia Chaverri, Adriano Chiò, Philippe Corcia, Philippe Couratier, Fabiola De Marchi, Claude Desnuelle, Michael A. Van Es, JesÚs Esteban, Massimiliano Filosto, Alberto GarcÍa Redondo, Julian Grosskreutz, Clemens O. Hanemann, Trygve HolmØy, Helle HØyer, Caroline Ingre, Blaz Koritnik, Magdalena Kuzma-Kozakiewicz, Thomas Lambert, Peter N. Leigh, Christian Lunetta, Jessica Mandrioli, Christopher J. Mcdermott, Thomas Meyer, Jesus S. Mora, Susanne Petri, MÓnica Povedano, Evy Reviers, Nilo Riva, Kit C.B. Roes, Miguel Á. Rubio, FranÇois Salachas, Stayko Sarafov, Gianni SorarÙ, Zorica Stevic, Kirsten Svenstrup, Anette Torvin MØller, Martin R. Turner, Philip Van Damme, Lucie A.G. Van Leeuwen, Luis Varona, Juan F. VÁzquez Costa, Markus Weber, Orla Hardiman, Leonard H. Van Den Berg

المساهمون: Department of Neurology, Rudolf Magnus Institute of Neuroscience, University Medical Centre Utrecht, Maurice Wohl Clinical Neuroscience Institut, King‘s College London, King's College Hospital (KCH), Department Neurological Sciences, Milan University, IRCCS Humanitas Clinical Institute, Rozzano, M, Umeå University, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Université de Lille, Ministry of Healthcare of Russian Federation, Department of Neurology, Montpellier CHU, Gui De Chauliac Hospital, Montpellier, Université de Lisbonne, Medizinische Universität Wien = Medical University of Vienna, Hospital Universitario La Paz, Università degli studi di Torino = University of Turin (UNITO), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Epidémiologie des Maladies Chroniques en zone tropicale (EpiMaCT), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-OmégaHealth (ΩHealth), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service de Neurologie [CHU Limoges], CHU Limoges, Centre référent Sclérose Latérale Amyotrophique et autres maladies du motoneurone [CHU Limoges] (SLA CHU Limoges), Neurology Clinic, University Hospital 'Maggiore della Carità', Novara, Hôpital Pasteur [Nice] (CHU), Centro de Diagnóstico de Enfermedades Moleculares, Dpto. Biol. Mol. Centro de Biología Molecular-SO UAM-CSIC. Universidad Autónoma Madrid, Campus Cantoblanco, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Car, University of Brescia, Lubeck University Hospital, Peninsula Schools of Medicine and Dentistry, Plymouth University, University of Oslo (UiO), Akershus University Hospital [Lørenskog], Telemark Hospital Trust [Skien, Norway], Karolinska Institutet, Department of Neurology, Karolinska University Hospital [Stockholm], University Medical Centre Ljubljana [Ljubljana, Slovenia] (UMCL), Departement de Neurology (MEDICAL UNIVERSITY OF WARSAW), Medical University of Warsaw - Poland, University Hospitals of North Midlands NHS Trust, Royal Stoke Hospital, Stoke-on-Trent, United Kingdom., University of Sussex, University of Modena and Reggio Emilia, Department of Biomedical Sciences, Department of Neuroscience, Academic Neurology Unit, University of Sheffield, Sant Rafael Hospital, Department of Neurology, Hannover Medical School, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, University of Barcelona, Leuven University Hospitals, Division of Neuroscience, San Raffaele Scientific Institute, San Raffaele Scientific Institute, Milan, Italy, Radboud University Medical Center [Nijmegen], IMIM-Hospital del Mar, Generalitat de Catalunya, Medical University of Sofia [Bulgarie], Université de Padoue, Institute of Neurology, Clinical Center of Serbia, University of Belgrade, Belgrade, University of Belgrade [Belgrade], University of Copenhagen = Københavns Universitet (UCPH), Aarhus University Hospital, University of Oxford, Nuffield Department of Clinical Neurosciences, Oxford, UK, University Hospitals Leuven [Leuven], Servicio de Neurología, Hospital de Cruces, Barakaldo, Vizcaya, Neurology Service, Hospital Universitario La Fe, Valencia, Cantonal Hospital St Gallen (KSSG), Department of Neurology, The Adelaide and Meath Hospital, Trinity College Dublin

المصدر: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2022, pp.1-8. ⟨10.1080/21678421.2021.2024856⟩
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23, 481-488
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 23, 7-8, pp. 481-488
Kliest, T, Van Eijk, R P A, Al-Chalabi, A, Albanese, A, Andersen, P M, Amador, M D M, BrÅthen, G, Brunaud-Danel, V, Brylev, L, Camu, W, De Carvalho, M, Cereda, C, Cetin, H, Chaverri, D, Chiò, A, Corcia, P, Couratier, P, De Marchi, F, Desnuelle, C, Van Es, M A, Esteban, J, Filosto, M, GarcÍa Redondo, A, Grosskreutz, J, Hanemann, C O, HolmØy, T, HØyer, H, Ingre, C, Koritnik, B, Kuzma-Kozakiewicz, M, Lambert, T, Leigh, P N, Lunetta, C, Mandrioli, J, Mcdermott, C J, Meyer, T, Mora, J S, Petri, S, Povedano, MÓ, Reviers, E, Riva, N, Roes, K C B, Rubio, M, Salachas, F, Sarafov, S, SorarÙ, G, Stevic, Z, Svenstrup, K, MØller, A T, Turner, M R, Van Damme, P, Van Leeuwen, L A G, Varona, L, VÁzquez Costa, J F, Weber, M, Hardiman, O & Van Den Berg, L H 2022, ' Clinical trials in pediatric ALS : a TRICALS feasibility study ', Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, vol. 23, no. 7-8, pp. 481-488 . https://doi.org/10.1080/21678421.2021.2024856Test

مصطلحات موضوعية: Adult, Databases, Factual, Neurologi, GENETICS, Clinical Neurology, AMYOTROPHIC-LATERAL-SCLEROSIS, Pediatric amyotrophic lateral sclerosis, pediatric investigation plan, Databases, Prevalence, Humans, clinical trial, clinical trials, ethics, therapy, Child, Feasibility Studies, Europe, Amyotrophic Lateral Sclerosis, Factual, Science & Technology, Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], Neurology, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Neurosciences & Neurology, Life Sciences & Biomedicine

وصف الملف: Print-Electronic; application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31fe6c6cded34ce9af67049e3ef23c06Test
https://hal-unilim.archives-ouvertes.fr/hal-03673852Test

المؤلفون: Philippe Couratier, Mamede de Carvalho, Christian Lunetta, Patrick Vourc'h, Marie-Hélène Soriani, Susana Pinto, Philippe Corcia, Claude Desnuelle, Marta Gromicho

المساهمون: Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Centre référent Sclérose Latérale Amyotrophique et autres maladies du motoneurone [CHU Limoges] (SLA CHU Limoges), Laboratoire de Biochimie et Biologie Moléculaire [Tours]

المصدر: European Journal of Neurology
European Journal of Neurology, Wiley, 2022, 29 (1), ⟨10.1111/ene.15134⟩

مصطلحات موضوعية: 0303 health sciences, 03 medical and health sciences, 0302 clinical medicine, Neurology, business.industry, Medicine, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Theology, business, 030217 neurology & neurosurgery, ComputingMilieux_MISCELLANEOUS, 030304 developmental biology

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2efca14cf909286044e8f8a4549a65a7Test
https://hal-unilim.archives-ouvertes.fr/hal-03521270Test

المؤلفون: Marie-Hélène Soriani, Philippe Corcia, Christian Lunetta, Patrick Vourc'h, Philippe Couratier, Susana Pinto, Mamede de Carvalho, Claude Desnuelle, Marta Gromicho

المساهمون: UMR U 1253, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), Centre de compétence de la Sclérose Latérale Amyotrophique [CHRU Tours] (SLA CHRU Tours), Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service de Neurologie [CHU Limoges], CHU Limoges, Centre référent Sclérose Latérale Amyotrophique et autres maladies du motoneurone [CHU Limoges] (SLA CHU Limoges), Laboratoire de Biochimie [CHU Tours], Université de Lisbonne, Hôpital Pasteur [Nice] (CHU), Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS)

المصدر: European Journal of Neurology
European Journal of Neurology, Wiley, 2021, 28 (8), pp.2780-2783. ⟨10.1111/ene.14960⟩

مصطلحات موضوعية: amyotrophic lateral sclerosis, phenotype, Familial clustering, Disease, Lower motor neuron, 03 medical and health sciences, 0302 clinical medicine, medicine, genetics, 030212 general & internal medicine, Amyotrophic lateral sclerosis, 10. No inequality, Primary Lateral Sclerosis, business.industry, TREM2, Motor neuron, medicine.disease, medicine.anatomical_structure, Neurology, Disease Presentation, familial clustering, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), primary lateral sclerosis, business, Neuroscience, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a9ad42faa4ec030fa3190c79f8d1fd38Test
https://hal-unilim.archives-ouvertes.fr/hal-03390641Test

المؤلفون: Claude Desnuelle

المصدر: Neuromuscular Diseases; № 3 (2012); 20-32 ; Нервно-мышечные болезни; № 3 (2012); 20-32 ; 2413-0443 ; 2222-8721 ; 10.17650/2222-8721-2012-0-3

مصطلحات موضوعية: аутофагия, болезнь Помпе, миопатия, лизосомальные болезни, болезнь накопления гликогена, ауто- фагосома

وصف الملف: application/pdf

العلاقة: https://nmb.abvpress.ru/jour/article/view/86/82Test; Van der Ploeg A.T., Reuser A. Pompe's disease. Lancet 2008;372:1342−53.; Hoefsloot L.H., Hoogeveen‑Westerveld M., Reuser A.J. et al. Characterization of the human lysosomal alpha‑glucosidase gene. Biochem J 1990;272(2):493−7.; Fukuda T., Ewan L., Bauer M. et al. Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 2006;59:700–8.; Hobson‑Webb L.D. Kishnani P.S. How common is misdiagnosis in late‑onset Pompe disease? Muscle Nerve 2012; 45(2):301−2.; Güngor D., de Vries J.M., Hop W.C. et al. Survival and associated factors in 268 adults with Pompe disease prior to treatment with enzyme replacement therapy. Orphanet J Rare Diseases 2011;6:34−42.; Marsden D., Levy H. Newborn screening of lysosomal storage disorders. Clin Chem 2010;56(7):1071−9.; Desnuelle C., Salviati L. Challenges in diagnosis and treatment of late‑onset Pompe disease. Curr Opin Neurol 2011;4(5):443−8.; Laforêt P., Nicolino M., Eymard P.B. et al. Juvenile and adult‑onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology 2000;55(8):1122−8.; Kishnani P.S., Steiner R.D., Bali D. et al. Pompe disease diagnosis and management guideline. Genet Med 2006;8:267−88.; Bembi B., Cerini E., Danesino C. et al. Diagnosis of glycogenosis type II. Neurology 2008;71(23 Suppl 2):4−11.; Hagemans M.L., Winkel L.P., van Doorn P.A. et al. Clinical manifestation and natural course of late‑onset Pompe's disease in 54 Dutch patients. Brain 2005; 128(Pt 3):671−7.; Sacconi S., Bocquet J.D., Chanalet S. et al. Abnormalities of cerebral arteries are frequent in patients with late‑onset Pompe disease. J Neurol 2010;257(10):1730−3.; Winkel L.P., Hagemans M.L., van Doorn P.A., et al. The natural course of non‑classic Pompe's disease; a review of 225 published cases. J Neurol 2005; 252(8):875−84.; Van Capelle C.I., Goedegebure A., Homans N.C. et al. Hearing loss in Pompe disease revisited: results from a study of 24 children. J Inherit Metab Dis 2010; 33(5):597−602.; Carlier R.Y., Laforet P., Wary C. et al. Whole‑body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns. Neuromuscul Disord 2011;21(11):791−9.; Wary C., Laforêt P., Eymard B. et al. Evaluation of muscle glycogen content by 13C NMR spectroscopy in adult‑onset acid maltase deficiency. Neuromuscul Disord 2003;13(7−8):545−53.; Phenix C.P., Colobong K. et al. Imaging of enzyme replacement therapy using PET. Proc Natl Acad Sci USA 2010; 107(24):10842−7.; Nascimbeni A.C., Fanin M., Tasca E. et al. Molecular pathology and enzyme processing in various phenotypes of acid maltase deficiency. Neurology 2008; 70(8):617−26.; Winchester B., Bali D., Bodamer O.A. et al. Pompe Disease Diagnostic Working Group Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metabolism 2008;93:275−81.; Chamoles N., Ghavami A., Pinto B.M. et al. Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening. Clin Chem 2004;50(10):1785−96.; Lukacs Z., Nieves Cobos P., Mengel E. et al. Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening. J Inherit Metab Dis 2010;33(1):43−50.; Hermans M.M., van Leenen D., Kroos M.A. et al. Twenty‑two novel mutations in the lysosomal alpha‑glucosidase gene (GAA) underscore the genotypephenotype correlation in glycogen storage disease type II. Hum Mutat 2004; 23(1):47−56.; Kroos M.A., Pomponio R.J., Hagemans M.L. et al. Broad spectrum of Pompe disease in patients with the same c.‑32‑13T->G haplotype. Neurology 2007; 68(2):110−5.; De Filippi P., Ravaglia S., Bembi B. et al. The angiotensin-converting enzyme insertion/deletion polymorphism modifies the clinical outcome in patients with Pompe disease. Genet Med. 2010;12(4):206−11.; Van der Beck N.A., Soliman O.I., van Capelle C.I., et al. Cardiac evaluation in children and adults with Pompe disease sharing the common c.‑32‑13T>G genotype rarely reveals abnormalities. J Neurol Sci 2008;275(1−2):46−50.; Cupler E.J., Berger K.I., Leshner R.T. et al. Consensus treatment recommendations for late‑onset Pompe disease. Muscle Nerve 2012;45(3):319−33.; Llerena J.C., Horovitz D.M., Marie S.K. et al. Brazilian Network for Studies in Pompe Disease (ReBrPOM). The Brazilian consensus on the management of Pompe disease. J Pediatr 2009;155(4 Suppl):47−56.; Slonim A.E., Bulone L., Goldberg T. et al. Modification of the natural history of adult‑onset acid maltase deficiency by nutrition and exercise therapy. Muscle Nerve 2007;35(1):70−7.; Raben N., Takikita S., Pittis M.G. et al. Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand. Autophagy 2007;3:546−52.; Raben N., Hill V., Shea L. et al. Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease. Hum Mol Genet 2008;15;17(24):3897−908.; Shea L., Raben N. Autophagy in skeletal muscle: implications for Pompe disease. Int J Clin Pharmacol Ther 2009;47(Suppl 1): 42−7.; Hesselink R.P., Schaart G., Wagenmakers A.J. et al. Age‑related morphological changes in skeletal muscle cells of acid alpha‑glucosidase knockout mice. Muscle Nerve 2006;33:505−13.; Raben N., Ralston E., Chien Y.H. et al. Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy. Mol Gen Metab 2010;101:324−31.; Cardone M., Porto C., Tarallo A. et al. Abnormal mannose-6‑phosphate receptor trafficking impairs recombinant alpha‑glucosidase uptake in Pompe disease fibroblasts. Pathogenics 2008;11(1):6:6−22.; Bijvoet A.G., van der Kamp E.H., Kroos M.A. et al. Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. Hum Mol Genet 1998;7(1):53−62.; Van der Hout H., Reuser A.J., Vulto A.G. et al. Recombinant human α‑glucosidase from rabbit milk in Pompe patients. Lancet 2000;356:397–8.; Raben N., Danon M., Gilbert A.L. et al. Enzyme replacement therapy in the mouse model of Pompe disease. Mol Genet Metab 2003;80(1−2):159−69.; Mc Vie‑Wylie A.J., Lee K.L., Qiu H. et al. Biochemical and pharmacological characterization of different recombinant acid alpha‑glucosidase preparations evaluated for the treatment of Pompe disease. Mol Genet Metab 2008;94(4):448−55.; Klinge L., Straub V., Neudorf U. et al. Safety and efficacy of recombinant acid alpha‑glucosidase (rhGAA) in patients with classical infantile Pompe disease: results of a phase II clinical trial. Neuromuscul Disord 2005;15(1):24−31.; Kishnani P.S., Corzo D., Nicolino M. et al. Recombinant human acid [alpha]- glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology 2007;68:99–109.; Kishnani P.S., Goldenberg P.C., DeArmey S.L. et al. Cross-reactive immunologic material status affects; treatment outcomes in Pompe disease infants. Mol Genet Metab 2010;99(1):26−33.; Van der Ploeg A.T., Clemens P.R., Corzo D. et al. A Randomized Study of Alglucosidase Alfa in Late‑Onset Pompe's Disease. N Engl J Med 2010;362:1396−406.; Strothotte S., Strigl‑Pill N., Grunert B. et al. Enzyme replacement therapy with alglucosidase alfa in 44 patients with late‑onset glycogen storage disease type 2: 12‑month results of an observational clinical trial. 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Mol Gen Metab 2011;103:1−11.; Orlikowski D., Pellegrini N., Prigent H. et al. Recombinant human acid alphaglucosidase (rhGAA) in adult patients with severe respiratory failure due to Pompe disease. Neuromuscul Disord 2011; 7:477−82.; Porto C., Cardone M., Fontana F. et al. The pharmacological chaperone N‑butyldeoxynojirimycin enhances enzyme replacement therapy in Pompe disease fibroblasts. Mol Ther 2009;17(6):964−71.; Panrenti G., Andria G. Pompe disease: from new views on pathophysiology to innovative therapeutic strategies. Curr Pharmaceut Biotechnol 2011;12:902−15.; Platt F.M., Jeyakumar M. Substrate reduction therapy. Acta Paediatr Suppl 2008;97(457):88−93.; Angelini C., Semplicini C. Metabolic myopathies: the challenge of new treatments. Curr Opin Pharmacol 2010;10(3):338−45.; Richard E., Douillard‑Guilloux G., Caillaud C. New insights into therapeutic options for Pompe disease. IUBMB Life 2011;63(11):979−86.; Bembi B., Cerini E., Danesino C. et al. Management and treatment of glycogenosis type II. Neurology 2008; 2:71(23 Suppl 2):12−36.; https://nmb.abvpress.ru/jour/article/view/86Test

الإتاحة: https://doi.org/10.17650/2222-8721-2012-0-3-20-32Test
https://doi.org/10.17650/2222-8721-2012-0-3Test
https://nmb.abvpress.ru/jour/article/view/86Test

المؤلفون: Vincent Meininger, Sylviane Marouillat, François Salachas, Nathalie Guy, Emilien Bernard, Pierre-François Pradat, Annie Verschueren, Patrick Vourc'h, Stéphane Beltran, Pascal Cintas, Christian R. Andres, Débora Lanznaster, William Camu, Rudolph Hergesheimer, Céline Brulard, Sophie Pittion-Vouyovitch, Gwendal Le Masson, Frédéric Laumonnier, Philippe Couratier, Jean-Philippe Camdessanché, Marie-Céline Fleury, Philippe Corcia, Julien Cassereau, Marie-Hélène Soriani, Claude Desnuelle, Fausto Viader, Veronique Danel, Ivan Kolev, Hélène Blasco

المساهمون: Service de Neurologie, CHU Tours, Centre Hospitalier Régional Universitaire de Tours (CHRU Tours), UMR U 1253, Université de Montpellier (UM), Service de Neurologie [CHU Limoges], CHU Limoges, Neuroépidémiologie Tropicale (NET), CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), CHRU de l'Hôpital de Bellevue, Services de Neurologie [CHU Toulouse], CHU Toulouse [Toulouse]-Hôpital Purpan [Toulouse], CHU Toulouse [Toulouse], centre de références des maladies neuromusculaires, Centre Hospitalier Universitaire de Nice (CHU Nice), Service de Neurologie [CHU Strasbourg], Hôpital de Hautepierre [Strasbourg]-Centre Hospitalier Universitaire de Strasbourg (CHU de Strasbourg ), Centre de compétence de la Sclérose Latérale Amyotrophique [CHU Clermont-Ferrand] (SLA), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Unité de Neurologie, Département de Neurologie, CHU d’Angers, Angers, France, Neuropsychologie et imagerie de la mémoire humaine (NIMH), Université de Caen Normandie (UNICAEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL), Centre Hospitalier Universitaire de Nancy (CHU Nancy), Département de Pharmacologie Médicale [Lille] (Pôle Recherche), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Université Lille 2 - Faculté de Médecine, Unite de Neurophysiologie Clinique, Hopital Yves Le Foll, Saint-Brieuc, Service de neurologie [Bordeaux], CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Université Francois Rabelais [Tours], Service de Neurologie [CHU Pitié-Salpêtrière], IFR70-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hopital universitaire de Lyon, Hôpital Universitaire de Lyon, Imagerie et cerveau (iBrain - Inserm U1253 - UNIV Tours ), Université de Tours (UT)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de Médecine Nucléaire [Tours], CHU Trousseau [APHP], Centre Hospitalier Régional Universitaire de Tours (CHRU TOURS), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de neurologie 1 [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Université de Tours-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Département Neurologie [CHU Toulouse], Pôle Neurosciences [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Normandie Université (NU)-Normandie Université (NU)-École pratique des hautes études (EPHE), Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille)-Faculté de Médecine Henri Warembourg - Université de Lille, Grelier, Elisabeth

المصدر: Journal of Neurology, Neurosurgery and Psychiatry
Journal of Neurology, Neurosurgery and Psychiatry, BMJ Publishing Group, 2021, 92 (5), pp.479-484. ⟨10.1136/jnnp-2020-325064⟩
Journal of Neurology, Neurosurgery and Psychiatry, 2021, 92 (5), pp.479-484. ⟨10.1136/jnnp-2020-325064⟩

مصطلحات موضوعية: Proband, Male, Genotype, DNA Mutational Analysis, Pedigree chart, Biology, TARDBP, 03 medical and health sciences, 0302 clinical medicine, Superoxide Dismutase-1, C9orf72, medicine, Cluster Analysis, Humans, Genetic Testing, Amyotrophic lateral sclerosis, 030304 developmental biology, Aged, Genetics, 0303 health sciences, C9orf72 Protein, Amyotrophic Lateral Sclerosis, High-Throughput Nucleotide Sequencing, Middle Aged, medicine.disease, Pedigree, DNA-Binding Proteins, Psychiatry and Mental health, Phenotype, [SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologie, Mutation (genetic algorithm), Mutation, RNA-Binding Protein FUS, Surgery, Female, [SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologie, Neurology (clinical), Age of onset, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11753cabe96401c6ebfea0f15f2592aeTest
https://hal-unilim.archives-ouvertes.fr/hal-03369962Test