المؤلفون: Sansa Zaragoza, Alba

المساهمون: University/Department: Universitat de Lleida. Departament de Medicina Experimental

مرشدي الرسالة: Soler i Tatché, Rosa Ma., Garcera, Ana

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Atròfia Muscular Espinal, SMN, Motoneurona, Atrofia Muscular Espinal, Spinal Muscular Atrophy, Motoneuron, Biologia Cel·lular

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/687934Test

المؤلفون: Muní Lofra, Robert

مرشدي الرسالة: Mayhew, Anna, Fort i Vanmeerhaeghe, Azahara

المصدر: TDX (Tesis Doctorals en Xarxa)

مصطلحات موضوعية: Spinal muscular atrophy, Standards of care, Real-world data, Outcome measures, Disease evaluation, Neuromuscular diseases, Fisioteràpia

الوقت: 616.8

وصف الملف: application/pdf

الوصول الحر: http://hdl.handle.net/10803/687828Test

المؤلفون: Heimdörfer, David¹ (AUTHOR) david.heimdoerfer@i-med.ac.at, Vorleuter, Alexander¹ (AUTHOR), Eschlböck, Alexander² (AUTHOR), Spathopoulou, Angeliki² (AUTHOR), Suarez-Cubero, Marta² (AUTHOR), Farhan, Hesso³ (AUTHOR), Reiterer, Veronika³ (AUTHOR), Spanjaard, Melanie⁴ (AUTHOR), Schaaf, Christian P.⁴ (AUTHOR), Huber, Lukas A.⁵ (AUTHOR), Kremser, Leopold⁶ (AUTHOR), Sarg, Bettina⁶ (AUTHOR), Edenhofer, Frank² (AUTHOR), Geley, Stephan³ (AUTHOR), de Araujo, Mariana E.G.⁵ (AUTHOR), Huettenhofer, Alexander¹ (AUTHOR) alexander.huettenhofer@i-med.ac.at

المصدر: American Journal of Human Genetics. Jul2024, Vol. 111 Issue 7, p1383-1404. 22p.

مصطلحات موضوعية: *PRADER-Willi syndrome, *SPINAL muscular atrophy, *AUTISM spectrum disorders, *FRAMESHIFT mutation, *HUMAN chromosomes, *RNA metabolism

المؤلفون: Devine, Helen¹ (AUTHOR) helen.devine@newcastle.ac.uk, Jabbari, Edwin^2,3 (AUTHOR), Scott, James⁴ (AUTHOR), Mehta, Arpan R⁵ (AUTHOR), Dobson, Ruth^6,7 (AUTHOR), Mead, Simon⁸ (AUTHOR)

المصدر: Brain: A Journal of Neurology. Jul2024, Vol. 147 Issue 7, p2270-2273. 4p.

مصطلحات موضوعية: *NEUROLOGY, *SPINAL muscular atrophy

مصطلحات جغرافية: UNITED Kingdom

المؤلفون: Barrois, Rémi^1,2,3 (AUTHOR) remi.barrois@aphp.fr, Griffon, Lucie^4,5 (AUTHOR), Barnerias, Christine⁶ (AUTHOR), Gitiaux, Cyril^1,3,6 (AUTHOR), Desguerre, Isabelle^6,7,8 (AUTHOR), Fauroux, Brigitte^4,5 (AUTHOR), Khirani, Sonia^4,5,9 (AUTHOR)

المصدر: Sleep Medicine. Jul2024, Vol. 119, p335-341. 7p.

مصطلحات موضوعية: *SPINAL muscular atrophy, *RESPIRATORY muscles, *COUGH, *POLYSOMNOGRAPHY, *PULMONARY function tests, *VENTILATION monitoring, *INFANTS

المؤلفون: Efimova, Irina Yu.¹ (AUTHOR), Zinchenko, Rena A.¹ (AUTHOR), Marakhonov, Andrey V.¹ (AUTHOR) marakhonov@generesearch.ru, Balinova, Natalya V.¹ (AUTHOR), Mikhalchuk, Kristina A.¹ (AUTHOR), Shchagina, Olga A.¹ (AUTHOR), Polyakov, Alexander V.¹ (AUTHOR), Mudaeva, Dzhaina A.² (AUTHOR), Saydaeva, Djamila H.³ (AUTHOR), Matulevich, Svetlana A.⁴ (AUTHOR), Parshintseva, Polina D.⁵ (AUTHOR), Belyashova, Elena Yu.⁶ (AUTHOR), Yakubovskiy, Grigoriy I.⁷ (AUTHOR), Tebieva, Inna S.^8,9 (AUTHOR), Gabisova, Yulia V.⁹ (AUTHOR), Irinina, Nataliya A.¹⁰ (AUTHOR), Jamschikova, Anna V.¹⁰ (AUTHOR), Nurgalieva, Liya R.¹¹ (AUTHOR), Saifullina, Elena V.¹² (AUTHOR), Nevmerzhitskaya, Kristina S.¹³ (AUTHOR)

المصدر: Pediatric Neurology. Jul2024, Vol. 156, p147-154. 8p.

مصطلحات موضوعية: *SPINAL muscular atrophy, *NEWBORN infants, *PILOT projects, *MUSCULAR atrophy, *NEWBORN screening

مصطلحات جغرافية: RUSSIA

المؤلفون: Landfeldt, Erik¹ (AUTHOR) erik.landfeldt@iqvia.com, Leibrock, Berenike² (AUTHOR), Hussong, Justine³ (AUTHOR), Thiele, Simone⁴ (AUTHOR), Walter, Maggie C.⁴ (AUTHOR), Moehler, Eva³ (AUTHOR), Zemlin, Michael⁵ (AUTHOR), Dillmann, Ulrich⁶ (AUTHOR), Flotats-Bastardas, Marina⁷ (AUTHOR)

المصدر: Quality of Life Research. Jul2024, Vol. 33 Issue 7, p1949-1959. 11p.

مصطلحات موضوعية: *SPINAL muscular atrophy, *QUALITY of life, *ADULTS, *MEDICAL registries, *NEUROMUSCULAR diseases, *LIFE expectancy, *TRAUMA registries, *NEUROMUSCULAR transmission

مصطلحات جغرافية: GERMANY

المؤلفون: Bzdok, Jessica^1,2 (AUTHOR) j.bzdok@labor-becker.de, Czibere, Ludwig² (AUTHOR), Burggraf, Siegfried² (AUTHOR), Landt, Olfert³ (AUTHOR), Maier, Esther M.² (AUTHOR), Röschinger, Wulf² (AUTHOR), Albert, Michael H.⁴ (AUTHOR), Hegert, Sebastian⁵ (AUTHOR), Janzen, Nils^5,6,7 (AUTHOR), Becker, Marc^1,2 (AUTHOR), Durner, Jürgen^1,2 (AUTHOR)

المصدر: PLoS ONE. 6/28/2024, Vol. 19 Issue 6, p1-18. 18p.

مصطلحات موضوعية: *SEVERE combined immunodeficiency, *SPINAL muscular atrophy, *NEWBORN screening, *T cell receptors, *AUDIOMETRY, *SICKLE cell anemia, *T cells

مصطلحات جغرافية: GERMANY

المؤلفون: Ruythooren, Fred^1,2 (AUTHOR) fred.ruythooren@uzleuven.be, Moens, Pierre^1,2 (AUTHOR) fred.ruythooren@uzleuven.be

المصدر: Journal of Clinical Medicine. Jun2024, Vol. 13 Issue 12, p3467. 12p.

مصطلحات موضوعية: *SPINAL muscular atrophy, *LITERATURE reviews, *SCOLIOSIS, *SPINE abnormalities, *ADOLESCENT idiopathic scoliosis, *NEUROMUSCULAR diseases

المؤلفون: Lilien, Charlotte¹ (AUTHOR) charlotte.lilien@paediatrics.ox.ac.uk, Vrscaj, Eva^2,3 (AUTHOR) eva.vrscaj@kclj.si, Thapaliya, Gita¹ (AUTHOR) gthapa02@gmail.com, Deconinck, Nicolas^4,5 (AUTHOR) nicolas.deconinck@hubruxelles.be, De Waele, Liesbeth^6,7 (AUTHOR) liesbeth.dewaele@uzleuven.be, Duong, Tina⁸ (AUTHOR) trduong@stanford.edu, Haberlová, Jana⁹ (AUTHOR) jana.haberlova@fnmotol.cz, Kumhera, Markéta⁹ (AUTHOR) marketakumhera@gmail.com, Peirens, Geertrui⁶ (AUTHOR) geertrui.peirens@ganspoel.be, Szabo, Lena¹⁰ (AUTHOR) szabo.lena@semmelweis.hu, Tahon, Valentine⁴ (AUTHOR) valentine.tahon@uzgent.be, Tang, Whitney J.⁸ (AUTHOR) whitneyt@stanford.edu, Benmhammed, Noor² (AUTHOR) noor.benmhammed@citadelle.be, Médard, Laurie² (AUTHOR) laurie.medard@citadelle.be, Servais, Laurent^1,2 (AUTHOR) laurent.servais@paediatrics.ox.ac.uk

المصدر: Journal of Clinical Medicine. Jun2024, Vol. 13 Issue 12, p3418. 14p.

مصطلحات موضوعية: *PATIENTS' attitudes, *SPINAL muscular atrophy, *TREATMENT effectiveness