Neuromuscular disease

Neuromuscular disease refers to a group of heterogeneous disorders that impair the function of motor nerves, muscles or neuromuscular junctions. Symptoms can include muscle pain, weakness or atrophy, fasciculations or spasms, hypertonia and hypotonia.

Latest Research and Reviews

  • Research | | open

    FXR1P is a RNA binding protein involved in muscle development. Here, the authors show that mutations in FXR1 exon 15, which is alternatively spliced in muscle, cause multi-minicore myopathy in humans and in mouse models.

    • María Cristina Estañ
    • , Elisa Fernández-Núñez
    • , Maha S. Zaki
    • , María Isabel Esteban
    • , Sandra Donkervoort
    • , Cynthia Hawkins
    • , José A. Caparros-Martin
    • , Dimah Saade
    • , Ying Hu
    • , Véronique Bolduc
    • , Katherine Ru-Yui Chao
    • , Julián Nevado
    • , Ana Lamuedra
    • , Raquel Largo
    • , Gabriel Herrero-Beaumont
    • , Javier Regadera
    • , Concepción Hernandez-Chico
    • , Eduardo F. Tizzano
    • , Victor Martinez-Glez
    • , Jaime J. Carvajal
    • , Ruiting Zong
    • , David L. Nelson
    • , Ghada A. Otaify
    • , Samia Temtamy
    • , Mona Aglan
    • , Mahmoud Issa
    • , Carsten G. Bönnemann
    • , Pablo Lapunzina
    • , Grace Yoon
    •  & Victor L. Ruiz-Perez
  • Research | | open

    • Esther Fernández-Simón
    • , Ana Carrasco-Rozas
    • , Eduard Gallardo
    • , Sebastián Figueroa-Bonaparte
    • , Izaskun Belmonte
    • , Irene Pedrosa
    • , Elena Montiel
    • , Xavier Suárez-Calvet
    • , Jorge Alonso-Pérez
    • , Sonia Segovia
    • , Claudia Nuñez-Peralta
    • , Jaume Llauger
    • , Mercedes Mayos
    • , Isabel Illa
    • , Miguel Angel Barba-Romero
    • , Joseba Barcena
    • , María Rosario Carzorla
    • , Carlota Creus
    • , Jaume Coll-Cantí
    • , Noemí de Luna
    • , Manuel Díaz
    • , Cristina Domínguez
    • , Roberto Fernández-Torrón
    • , María José García-Antelo
    • , Josep María Grau
    • , María Teresa Gómez-Caravaca
    • , Juan Carlos León-Hernández
    • , Adolfo López de Munáin
    • , Francisco Antonio Martínez-García
    • , Yolanda Morgado
    • , Antonio Moreno
    • , Germán Morís
    • , Miguel Angel Muñoz-Blanco
    • , Andres Nascimento
    • , Carmen Paradas
    • , José Luis Parajuá-Pozo
    • , Luis Querol
    • , Arturo Robledo-Strauss
    • , Ricard Rojas-García
    • , Íñigo Rojas-Marcos
    • , Jose Antonio Salazar
    • , Mercedes Usón
    •  & Jordi Díaz-Manera
  • Research | | open

    Adeno-associated viral vectors (AAV) are being developed for gene therapy of skeletal muscle, but it is a challenge to achieve robust gene expression. Here, the authors identify muscle-specific cisregulatory elements that lead to a substantial increase in micro-dystrophin and follistatin expression, resulting in a safe and sustainable rescue of the dystrophic phenotype in mouse models.

    • S. Sarcar
    • , W. Tulalamba
    • , M. Y. Rincon
    • , J. Tipanee
    • , H. Q. Pham
    • , H. Evens
    • , D. Boon
    • , E. Samara-Kuko
    • , M. Keyaerts
    • , M. Loperfido
    • , E. Berardi
    • , S. Jarmin
    • , P. In’t Veld
    • , G. Dickson
    • , T. Lahoutte
    • , M. Sampaolesi
    • , P. De Bleser
    • , T. VandenDriessche
    •  & M. K. Chuah
  • Research |

    • Martin Krahn
    • , Valérie Biancalana
    • , Mathieu Cerino
    • , Aurélien Perrin
    • , Laurence Michel-Calemard
    • , Juliette Nectoux
    • , France Leturcq
    • , Céline Bouchet-Séraphin
    • , Cécile Acquaviva-Bourdain
    • , Emmanuelle Campana-Salort
    • , Annamaria Molon
    • , Jon Andoni Urtizberea
    • , Frédérique Audic
    • , Brigitte Chabrol
    • , Jean Pouget
    • , Roseline Froissart
    • , Judith Melki
    • , John Rendu
    • , François Petit
    • , Corinne Métay
    • , Nathalie Seta
    • , Damien Sternberg
    • , Julien Fauré
    •  & Mireille Cossée

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