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1 . Academic Journal
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes
저자
by
Iker Núñez-Carpintero
;
Maria Rigau
;
Mattia Bosio
;
Emily O’Connor
;
Sally Spendiff
, et al.
소스
Nature Communications, Vol 15, Iss 1, Pp 1-15 (2024)
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7 . Academic Journal
Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease
저자
by
Kaela O’Connor
;
Sally Spendiff
;
Hanns Lochmüller
;
Rita Horvath
.
소스
International Journal of Molecular Sciences, Vol 24, Iss 10, p 8505 (2023)
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6 . Academic Journal
Unbiased proteomics, histochemistry, and mitochondrial DNA copy number reveal better mitochondrial health in muscle of high-functioning octogenarians
저자
by
Ceereena Ubaida-Mohien
;
Sally Spendiff
;
Alexey Lyashkov
;
Ruin Moaddel
;
Norah J MacMillan
, et al.
소스
eLife, Vol 11 (2022)
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7 . Academic Journal
SIL1 deficiency causes degenerative changes of peripheral nerves and neuromuscular junctions in fish, mice and human
저자
by
Vietxuan Phan
;
Dan Cox
;
Silvia Cipriani
;
Sally Spendiff
;
Stephan Buchkremer
, et al.
소스
Neurobiology of Disease, Vol 124, Iss , Pp 218-229 (2019)
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7 . Academic Journal
Mitochondrial Content, but Not Function, Is Altered With a Multimodal Resistance Training Protocol and Adequate Protein Intake in Leucine-Supplemented Pre/Frail Women
저자
by
Kathryn J. Jacob
;
Vita Sonjak
;
Sally Spendiff
;
Russell T. Hepple
;
Stéphanie Chevalier
, et al.
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Frontiers in Nutrition, Vol 7 (2021)
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7 . Academic Journal
Modulation of the Acetylcholine Receptor Clustering Pathway Improves Neuromuscular Junction Structure and Muscle Strength in a Mouse Model of Congenital Myasthenic Syndrome
저자
by
Sally Spendiff
;
Rachel Howarth
;
Grace McMacken
;
Tracey Davey
;
Kaitlyn Quinlan
, et al.
소스
Frontiers in Molecular Neuroscience, Vol 13 (2020)
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7 . Academic Journal
Modulation of Agrin and RhoA Pathways Ameliorates Movement Defects and Synapse Morphology in MYO9A-Depleted Zebrafish
저자
by
Emily O’Connor
;
George Cairns
;
Sally Spendiff
;
David Burns
;
Stefan Hettwer
, et al.
소스
Cells, Vol 8, Iss 8, p 848 (2019)
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7 . Academic Journal
Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C
저자
by
Silvia Cipriani
;
Vietxuan Phan
;
Jean-Jacques Médard
;
Rita Horvath
;
Hanns Lochmüller
, et al.
소스
International Journal of Molecular Sciences, Vol 19, Iss 12, p 4072 (2018)
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7 .
Presynaptic Congenital Myasthenic Syndromes: Understanding Clinical Phenotypes through In vivo Models
저자
by
Alessia Pugliese
;
Stephen H. Holland
;
Carmelo Rodolico
;
Hanns Lochmüller
;
Sally Spendiff
.
소스
Journal of Neuromuscular Diseases
. :1-29
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7 .
Collagen VI Regulates Motor Circuit Plasticity and Motor Performance by Cannabinoid Modulation
저자
by
Daniel D. Lam
;
Rhîannan H. Williams
;
Ernesto Lujan
;
Koji Tanabe
;
Georg Huber
, et al.
소스
J Neurosci
J. Neurosci. 42, 1557-1573 (2022)
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