Zobrazeno 1 - 10
of 146
pro vyhledávání: '"Distrophy"'
Autor:
Michela Ripolone, Daniele Velardo, Stefania Mondello, Simona Zanotti, Francesca Magri, Elisa Minuti, Sara Cazzaniga, Francesco Fortunato, Patrizia Ciscato, Francesca Tiberio, Monica Sciacco, Maurizio Moggio, Paolo Bettica, Giacomo P. Comi
Publikováno v:
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-12 (2022)
Abstract Becker muscular dystrophy (BMD) is a severe X-linked muscle disease. Age of onset, clinical variability, speed of progression and affected tissues display wide variability, making a clinical trial design for drug development very complex. Th
Externí odkaz:
https://doaj.org/article/ea2044a8a8514330866dadc3d9229bd9
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 1, Pp 98-101 (2021)
Cardiomyopathy is a major factor contributing to mortality and morbidity in patients with Duchenne and Becker muscular dystrophies (DMD/BMD), and is therefore among the increasingly important findings. These X-linked recessive disorders involve the d
Externí odkaz:
https://doaj.org/article/ce38976b83ac4965af19bc3656a186cc
Autor:
João Paulo Kazmierczak de Camargo, Giovanna Nazaré de Barros Prezia, Naoye Shiokawa, Mario Teruo Sato, Roberto Rosati, Angelica Beate Winter Boldt
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Central areolar choroidal dystrophy (CACD) is a rare hereditary disease that mainly affects the macula, resulting in progressive and usually profound visual loss. Being part of congenital retinal dystrophies, it may have an autosomal dominant or rece
Externí odkaz:
https://doaj.org/article/e7a5ba4d6d1d4c27a812a1cd8370741c
Autor:
Valerio Caputo, Domenica Megalizzi, Carlo Fabrizio, Andrea Termine, Luca Colantoni, Carlo Caltagirone, Emiliano Giardina, Raffaella Cascella, Claudia Strafella
Publikováno v:
Cells, Vol 11, Iss 17, p 2687 (2022)
Despite the knowledge of the main mechanisms involved in facioscapulohumeral muscular dystrophy (FSHD), the high heterogeneity and variable penetrance of the disease complicate the diagnosis, characterization and genotype–phenotype correlation of p
Externí odkaz:
https://doaj.org/article/45c5732fc8d74d508a9ad8c96d7875a5
Publikováno v:
Italian Journal of Medicine, Vol 8, Iss 2, Pp 135-139 (2014)
We present the case of an 80-year old woman affected by the Cronkhite-Canada syndrome. This rare disease was described for the first time in 1955. It is characterized by the growth of multiple polyps in the gastroenteric tract, leading to diarrhea, a
Externí odkaz:
https://doaj.org/article/5f06671050de47749920179e662471c6
Publikováno v:
Journal of Pediatric Research, Vol 8, Iss 1, Pp 98-101 (2021)
Cardiomyopathy is a major factor contributing to mortality and morbidity in patients with Duchenne and Becker muscular dystrophies (DMD/ BMD), and is therefore among the increasingly important findings. These X-linked recessive disorders involve the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cbed8ff38158d81e1ea54354704bf4a
https://doi.org/10.4274/jpr.galenos.2020.88609
https://doi.org/10.4274/jpr.galenos.2020.88609
Autor:
Crous Sala, Adriana
Publikováno v:
UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)
Universitat Politècnica de Catalunya (UPC)
En aquest treball hem creat un joc seriòs basat en el controlador Leap Motion per a fer un acompanyament a la teràpia de rehabilitació que segueixen les persones amb Distròfia Muscular de Duchenne. El joc és el conegut joc de bitlles tradicional
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::437af1fa95f60413892efde5ce1fbff0
https://hdl.handle.net/2117/369082
https://hdl.handle.net/2117/369082
Autor:
Martins, Amanda de Abreu
A Distrofia Muscular de Duchenne (DMD) é uma doença hereditária ligada ao cromossomo ‘X’ que tem como principais características a atrofia e fraqueza muscular progressiva, chegando até mesmo ao comprometimento da musculatura cardíaca e resp
The Duchenne Muscular Dystrophy (DMD) and the Spinal Muscular Atrophy (SMA) are two rare neuromuscular diseases characterized by muscle weakness that lead to loss of ambulation, respiratory and cardiologic problems, and premature death1,2. Even with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3484::be8474770fedd83a5f900c0498f4adfc
https://hdl.handle.net/2117/381016
https://hdl.handle.net/2117/381016
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