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Servián‐Morilla, Emilia
28  results:
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1

Novel ANO5 intronic Roma variant alters splicing causing mu..:

Mavillard, Fabiola ; Servián‐Morilla, Emilia ; Rivas, Eloy..
Clinical Genetics.  100 (2021)  1 - p. 106-110 , 2021
Link: https://doi.org/10.1111/..
 
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2

NOVEL intronic CAPN3 Roma mutation alters splicing causing ..:

Mavillard, Fabiola ; Madruga‐Garrido, Marcos ; Rivas, Eloy...
Annals of Clinical and Translational Neurology.  6 (2019)  11 - p. 2328-2333 , 2019
Link: https://doi.org/10.1002/..
 
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3

APOGLUT1mutation causes a muscular dystrophy with reduced N..:

Servián‐Morilla, Emilia ; Takeuchi, Hideyuki ; Lee, Tom V...
EMBO Molecular Medicine.  8 (2016)  11 - p. 1289-1309 , 2016
Link: https://doi.org/10.15252..
 
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4

A splice-altering homozygous variant in COX18 causes severe..:

Mavillard, Fabiola ; Guerra-Castellano, Alejandra ; Guerrero-Gómez, David...
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease.  1870 (2024)  7 - p. 167330 , 2024
Link: https://doi.org/10.1016/..
 
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5

Ablation of the carboxy-terminal end of MAMDC2 causes a dis..:

Mavillard, Fabiola ; Servian-Morilla, Emilia ; Dofash, Lein...
Brain.  146 (2023)  12 - p. 5235-5248 , 2023
Link: https://doi.org/10.1093/..
 
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6

AKLHL403' UTR splice-altering variant causes milder NEM8, a..:

Dofash, Lein N H ; Monahan, Gavin V ; Servián-Morilla, Emilia...
Human Molecular Genetics.  32 (2022)  7 - p. 1127-1136 , 2022
Link: https://doi.org/10.1093/..
 
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7

Muscle MRI characteristic pattern for late-onset TK2 defici..:

Domínguez-González, Cristina ; Fernández-Torrón, Roberto ; Moore, Ursula...
Journal of Neurology.  269 (2022)  7 - p. 3550-3562 , 2022
Link: https://doi.org/10.1007/..
 
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8

Core-rod myopathy due to a novel mutation in BTB/POZ domain..:

Garibaldi, Matteo ; Fattori, Fabiana ; Bortolotti, Carlo Augusto...
Acta Neuropathologica Communications.  6 (2018)  1 - p. , 2018
Link: https://doi.org/10.1186/..
 
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9

Generation of an induced pluripotent stem cell line (CSCRMi..:

Wu, Jianbo ; Hunt, Samuel D. ; Matthias, Nadine...
Stem Cell Research.  24 (2017)  - p. 102-105 , 2017
Link: https://doi.org/10.1016/..
 
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10

Proteolytic Processing of Neurexins by Presenilins Sustains..:

Servián-Morilla, Emilia ; Robles-Lanuza, Estefanía ; Sánchez-Hidalgo, Ana C....
The Journal of Neuroscience.  38 (2017)  4 - p. 901-917 , 2017
Link: https://doi.org/10.1523/..
 
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11

Presenilin/γ-Secretase Regulates Neurexin Processing at Syn..:

Saura, Carlos A. ; Servián-Morilla, Emilia ; Scholl, Francisco G..
PLoS ONE.  6 (2011)  4 - p. e19430 , 2011
Link: https://doi.org/10.1371/..
 
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12

NOVEL intronic CAPN3 Roma mutation alters splicing causing ..:

Mavillard, Fabiola ; Madruga‐Garrido, Marcos ; Rivas, Eloy...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6856619/.  , 2019
Link: http://www.ncbi.nlm.nih...
 
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13

Muscle MRI characteristic pattern for late-onset TK2 defici..:

Domínguez-González, Cristina ; Fernández-Torrón, Roberto ; Moore, Ursula...
Instituto de Salud Carlos III PI18/01374.  , 2022
Link: https://ddd.uab.cat/reco..
 
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14

Muscle MRI characteristic pattern for late-onset TK2 defici..:

Domínguez-González, Cristina ; Fernández-Torrón, Roberto ; Moore, Ursula...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9217784/.  , 2022
Link: http://www.ncbi.nlm.nih...
 
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15

Muscle MRI characteristic pattern for late-onset TK2 defici..:

Domínguez-González, Cristina ; Fernández-Torrón, Roberto ; Moore, Ursula...
http://hdl.handle.net/10668/20008.  , 2022
Link: http://hdl.handle.net/10..
 
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