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Macarena Cabrera

Showing results (11-20 of 24) with videos related to

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Annals of Clinical and Translational Neurology|October 16, 2019
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decayFabiola Mavillard, Marcos Madruga-Garrido, Eloy Rivas, et al.
Human Molecular Genetics|November 16, 2013
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific mannerBisei Ohkawara, Macarena Cabrera-Serrano, Tomohiko Nakata, et al.
Journal of Medical Genetics|March 18, 2020
A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathyMacarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, et al.
Human Molecular Genetics|November 2, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanismLein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, et al.
Brain : a Journal of Neurology|July 28, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophyFabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, et al.
Neurology|June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spineMacarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
EMBO Molecular Medicine|November 4, 2016
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell lossEmilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Pageof 3

Showing results (11-20 of 24) with videos related to

Sort By:
Pageof 3
Annals of Clinical and Translational Neurology|October 16, 2019
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decayFabiola Mavillard, Marcos Madruga-Garrido, Eloy Rivas, et al.
Human Molecular Genetics|November 16, 2013
LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific mannerBisei Ohkawara, Macarena Cabrera-Serrano, Tomohiko Nakata, et al.
Journal of Medical Genetics|March 18, 2020
A homozygous <i>UBA5</i> pathogenic variant causes a fatal congenital neuropathyMacarena Cabrera-Serrano, David Joseph Coote, Dimitar Azmanov, et al.
Human Molecular Genetics|November 2, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanismLein N H Dofash, Gavin V Monahan, Emilia Servián-Morilla, et al.
Brain : a Journal of Neurology|July 28, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophyFabiola Mavillard, Emilia Servian-Morilla, Lein Dofash, et al.
Brain : a Journal of Neurology|February 15, 2015
Expanding the phenotype of GMPPB mutationsMacarena Cabrera-Serrano, Roula Ghaoui, Gianina Ravenscroft, et al.
Annals of Clinical and Translational Neurology|March 11, 2020
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experienceSarah J Beecroft, Kyle S Yau, Richard J N Allcock, et al.
Neurology|June 29, 2018
A Roma founder <i>BIN1</i> mutation causes a novel phenotype of centronuclear myopathy with rigid spineMacarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.
EMBO Molecular Medicine|November 4, 2016
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell lossEmilia Servián-Morilla, Hideyuki Takeuchi, Tom V Lee, et al.
Brain : a Journal of Neurology|December 27, 2021
Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysisMacarena Cabrera-Serrano, Laure Caccavelli, Marco Savarese, et al.
Pageof 3