Zobrazeno 1 - 10
of 48
pro vyhledávání: '"Sally, Spendiff"'
Autor:
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
Abstract Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of divers
Externí odkaz:
https://doaj.org/article/da340b3b30af42679f99a2df69ba8241
Autor:
Cristina Manis, Mattia Casula, Andreas Roos, Andreas Hentschel, Matthias Vorgerd, Oksana Pogoryelova, Alexa Derksen, Sally Spendiff, Hanns Lochmüller, Pierluigi Caboni
Publikováno v:
Molecules, Vol 29, Iss 21, p 5211 (2024)
GNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults. GNE myopathy (GNEM) is caused by bi-allelic variants in the UDP-N-acetylglucosamine
Externí odkaz:
https://doaj.org/article/1f103e2be7a74a24ac706e6f4917011d
Autor:
Stephen Henry Holland, Ricardo Carmona-Martinez, Kaela O’Connor, Daniel O’Neil, Andreas Roos, Sally Spendiff, Hanns Lochmüller
Publikováno v:
Biomolecules, Vol 14, Iss 10, p 1252 (2024)
The neuromuscular junction (NMJ) is the site where the motor neuron innervates skeletal muscle, enabling muscular contraction. Congenital myasthenic syndromes (CMS) arise when mutations in any of the approximately 35 known causative genes cause impai
Externí odkaz:
https://doaj.org/article/e5f54fce7e5a4e9f9e07f148b2265675
Autor:
Ceereena Ubaida-Mohien, Sally Spendiff, Alexey Lyashkov, Ruin Moaddel, Norah J MacMillan, Marie-Eve Filion, Jose A Morais, Tanja Taivassalo, Luigi Ferrucci, Russell T Hepple
Publikováno v:
eLife, Vol 11 (2022)
Background: Master athletes (MAs) prove that preserving a high level of physical function up to very late in life is possible, but the mechanisms responsible for their high function remain unclear. Methods: We performed muscle biopsies in 15 octogena
Externí odkaz:
https://doaj.org/article/d70107ce73954db9be622478812cdc45
Autor:
Vietxuan Phan, Dan Cox, Silvia Cipriani, Sally Spendiff, Stephan Buchkremer, Emily O'Connor, Rita Horvath, Hans Hilmar Goebel, Denisa Hathazi, Hanns Lochmüller, Tatjana Straka, Rüdiger Rudolf, Joachim Weis, Andreas Roos
Publikováno v:
Neurobiology of Disease, Vol 124, Iss , Pp 218-229 (2019)
Background: Marinesco-Sjögren Syndrome (MSS) is a rare neuromuscular condition caused by recessive mutations in the SIL1 gene resulting in the absence of functional SIL1 protein, a co-chaperone for the major ER chaperone, BiP. As BiP is decisive for
Externí odkaz:
https://doaj.org/article/86c73da4fb03475eacefcedc8379d4c2
Publikováno v:
Journal of Neuromuscular Diseases. :1-29
Presynaptic congenital myasthenic syndromes (CMS) are a group of genetic disorders affecting the presynaptic side of the neuromuscular junctions (NMJ). They can result from a dysfunction in acetylcholine (ACh) synthesis or recycling, in its packaging
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e06d2228f1299cd130f72536cf5878b8
https://doi.org/10.3233/jnd-221646
https://doi.org/10.3233/jnd-221646
Autor:
Kathryn J. Jacob, Vita Sonjak, Sally Spendiff, Russell T. Hepple, Stéphanie Chevalier, Anna Perez, José A. Morais
Publikováno v:
Frontiers in Nutrition, Vol 7 (2021)
Background: Frailty is a clinical condition associated with loss of muscle mass and strength (sarcopenia). Mitochondria are centrally implicated in frailty and sarcopenia. Leucine (Leu) can alter mitochondrial content in myocytes, while resistance tr
Externí odkaz:
https://doaj.org/article/ebcaf27ebb2c480dafa4ff31cd32b6d9
Autor:
Sally Spendiff, Rachel Howarth, Grace McMacken, Tracey Davey, Kaitlyn Quinlan, Emily O'Connor, Clarke Slater, Stefan Hettwer, Armin Mäder, Andreas Roos, Rita Horvath, Hanns Lochmüller
Publikováno v:
Frontiers in Molecular Neuroscience, Vol 13 (2020)
Introduction: Congenital myasthenic syndromes (CMS) are a diverse group of inherited neuromuscular disorders characterized by a failure of synaptic transmission at the neuromuscular junction (NMJ). CMS often present early with fatigable weakness and
Externí odkaz:
https://doaj.org/article/abdd85adee9246eda39df3320d66f035
Autor:
Daniel D. Lam, Rhîannan H. Williams, Ernesto Lujan, Koji Tanabe, Georg Huber, Nay Lui Saw, Juliane Merl-Pham, Aaro V. Salminen, David Lohse, Sally Spendiff, Melanie J. Plastini, Michael Zech, Hanns Lochmüller, Arie Geerlof, Stefanie M. Hauck, Mehrdad Shamloo, Marius Wernig, Juliane Winkelmann
Publikováno v:
J Neurosci
J. Neurosci. 42, 1557-1573 (2022)
J. Neurosci. 42, 1557-1573 (2022)
Collagen VI is a key component of muscle basement membranes, and genetic variants can cause monogenic muscular dystrophies. Conversely, human genetic studies recently implicated collagen VI in central nervous system function, with variants causing th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03398743b7a65eb43491f5d4185ba043
https://doi.org/10.1523/jneurosci.0962-21.2021
https://doi.org/10.1523/jneurosci.0962-21.2021
Autor:
Sally Spendiff, Yin Dong, Lorenzo Maggi, Pedro M Rodríguez Cruz, David Beeson, Hanns Lochmüller
Publikováno v:
Neuromuscular Disorders.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::1e46cb6660673e5411879751fb91e630
https://doi.org/10.1016/j.nmd.2022.12.006
https://doi.org/10.1016/j.nmd.2022.12.006