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PubPharm (10)
1
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy
enthalten in:
Brain : a journal of neurology
| 2023
von
Mavillard, F.
|
Servian-Morilla, E.
|
Dofash, L.
| +13
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2
Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy
enthalten in:
Clinical genetics
| 2021
von
Mavillard, F.
|
Servián-Morilla, E.
|
Rivas, E.
| +2
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3
Growth Differentiation Factor 15 is a potential biomarker of therapeutic response for TK2 deficient myopathy
enthalten in:
Scientific reports
| 2020
von
Dominguez-Gonzalez, C.
|
Badosa, C.
|
Madruga-Garrido, M.
| +23
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4
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay
enthalten in:
Annals of clinical and translational neurology
| 2019
von
Mavillard, F.
|
Madruga-Garrido, M.
|
Rivas, E.
| +6
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5
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy
enthalten in:
Annals of neurology
| 2019
von
Domínguez-González, C.
|
Madruga-Garrido, M.
|
Mavillard, F.
| +24
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6
Loss of postnatal quiescence of neural stem cells through mTOR activation upon genetic removal of cysteine string protein-α
enthalten in:
Proceedings of the National Academy of Sciences of the United States of America
| 2019
von
Nieto-González, J.
|
Gómez-Sánchez, L.
|
Mavillard, F.
| +6
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7
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine
enthalten in:
Neurology
| 2018
von
Cabrera-Serrano, M.
|
Mavillard, F.
|
Biancalana, V.
| +19
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8
Proteolytic Processing of Neurexins by Presenilins Sustains Synaptic Vesicle Release
enthalten in:
The Journal of neuroscience : the official journal of the Society for Neuroscience
| 2018
von
Servián-Morilla, E.
|
Robles-Lanuza, E.
|
Sánchez-Hidalgo, A.
| +6
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9
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
enthalten in:
EMBO molecular medicine
| 2016
von
Servián-Morilla, E.
|
Takeuchi, H.
|
Lee, T.
| +21
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10
PKA-mediated Golgi remodeling during cAMP signal transmission
enthalten in:
Traffic (Copenhagen, Denmark)
| 2010
von
Mavillard, F.
|
Hidalgo, J.
|
Megias, D.
| +2
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1
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Thema: Research Support, Non-U.S. Gov't
Medienart
10
Aufsätze
10
E-Artikel
10
E-Ressourcen
Zeitschriftentitel
1
Annals of clinical and translational neurology
1
Annals of neurology
1
Brain : a journal of neurology
1
Clinical genetics
1
EMBO molecular medicine
1
Neurology
1
Proceedings of the National Academy of Sciences...
1
Scientific reports
1
The Journal of neuroscience : the official jour...
1
Traffic (Copenhagen, Denmark)
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Thema
10
Journal Article
Research Support, Non-U.S. Gov't
3
muscular dystrophy
2
Case Reports
2
EC 2.7.1.-
2
EC 2.7.1.21
2
Multicenter Study
2
Thymidine Kinase
2
thymidine kinase 2
1
62031-54-3
1
ANO5
1
ANO5 protein, human
1
Adaptor Proteins, Signal Transducing
1
Alzheimer's disease
1
Anoctamins
1
BIN1 protein, human
1
Biomarkers
1
CAPN3 protein, human
1
COL6 disorders
1
Calpain
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Erscheinungszeitraum
3
2020-
7
2010-2019
Erscheinungsjahr(e)
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Sprache
10
Englisch
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