F Munell

Affiliations

Sección de Neurología Pediátrica, Servicio de Pediatría, Hospital Universitari Vall d'Hebrón, Barcelona, Spain.

Publications (13)

The clinical spectrum of the congenital myasthenic syndrome resulting from COL13A1 mutations.

Brain : a journal of neurology

Avec: Pedro M Rodríguez Cruz , Judith Cossins , Eduardo de Paula Estephan , Francina Munell , Kathryn Selby , Michio Hirano , Reza Maroofin , Mohammad Yahya Vahidi Mehrjardi , Gabriel Chow , Aisling Carr , Adnan Manzur , Stephanie Robb , Pinki Munot , Wei Wei Liu , Siddharth Banka , Harry Fraser , Christian De Goede , Edmar Zanoteli , Umbertina Conti Reed , Abigail Sage , Margarida Gratacos , Alfons Macaya , Marina Dusl , Jan Senderek , Ana Töpf , Monika Hofer , Ravi Knight , Sithara Ramdas , Sandeep Jayawant , Hans Lochmüller , Jacqueline Palace , David Beeson

Inferring disease course from differential exon usage in the wide titinopathy spectrum.

Annals of clinical and translational neurology

Avec: Maria Francesca Di Feo , Ali Oghabian , Ella Nippala , Mathias Gautel , Heinz Jungbluth , Francesca Forzano , Edoardo Malfatti , Claudia Castiglioni , Ilona Krey , David Gomez Andres , Angela F Brady , Maria Iascone , Anna Cereda , Lidia Pezzani , Daniel Natera De Benito , Andres Nascimiento Osorio , Berta Estévez Arias , Sergei A Kurbatov , Tania Attie-Bitach , Sheela Nampoothiri , Erin Ryan , Michelle Morrow , Svetlana Gorokhova , Brigitte Chabrol , Juha Sinisalo , Heli Tolppanen , Johanna Tolva , Francina Munell , Jessica Camacho Soriano , Maria Angeles Sanchez Duran , Mridul Johari , Homa Tajsharghi , Peter Hackman , Bjarne Udd , Marco Savarese

Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.

Annals of neurology

Avec: Cristina Domínguez-González , Marcos Madruga-Garrido , Fabiola Mavillard , Caterina Garone , Francisco Javier Aguirre-Rodríguez , M Alice Donati , Karin Kleinsteuber , Itxaso Martí , Elena Martín-Hernández , Juan P Morealejo-Aycinena , Francina Munell , Andrés Nascimento , Susana G Kalko , M Dolores Sardina , Concepcion Álvarez Del Vayo , Olga Serrano , Yuelin Long , Yuqi Tu , Bruce Levin , John L P Thompson , Kristen Engelstad , Jasim Uddin , Javier Torres-Torronteras , Cecilia Jimenez-Mallebrera , Ramon Martí , Carmen Paradas , Michio Hirano

A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy.

Annals of clinical and translational neurology

Avec: Payam Mohassel , Pomi Yun , Safoora Syeda , Abhinandan Batra , Andrew J Bradley , Sandra Donkervoort , Soledad Monges , Julie S Cohen , Doris G Leung , Francina Munell , Carlos Ortez , Angel Sánchez-Montáñez , Peter Karachunski , John Brandsema , Livija Medne , Vinay Chaudhry , Giorgio Tasca , A Reghan Foley , Bjarne Udd , Andrew E Arai , Glenn A Walter , Carsten G Bönnemann

eDiVA-Classification and prioritization of pathogenic variants for clinical diagnostics.

Human mutation

Avec: Mattia Bosio , Oliver Drechsel , Rubayte Rahman , Francesc Muyas , Raquel Rabionet , Daniela Bezdan , Laura Domenech Salgado , Hyun Hor , Jean-Jacques Schott , Francina Munell , Roger Colobran , Alfons Macaya , Xavier Estivill , Stephan Ossowski

Disease duration and disability in dysfeRlinopathy can be described by muscle imaging using heatmaps and random forests.

Muscle & nerve

Avec: David Gómez-Andrés , Jorge Díaz , Francina Munell , Ángel Sánchez-Montáñez , Irene Pulido-Valdeolivas , Lionel Suazo , Cristián Garrido , Susana Quijano-Roy , Jorge A Bevilacqua

Congenital myasthenic syndrome caused by novel COL13A1 mutations.

Journal of neurology

Avec: Marina Dusl , Teresa Moreno , Francina Munell , Alfons Macaya , Margarida Gratacòs , Angela Abicht , Tim M Strom , Hanns Lochmüller , Jan Senderek

Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons.

Acta neuropathologica communications

Avec: Alba Sansa , Ivan Hidalgo , Maria P Miralles , Sandra de la Fuente , M Jose Perez-Garcia , Francina Munell , Rosa M Soler , Ana Garcera

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.

Journal of neurology

Avec: Susana Quijano-Roy , Jana Haberlova , Claudia Castiglioni , John Vissing , Francina Munell , François Rivier , Tanya Stojkovic , Edoardo Malfatti , Marta Gómez García de la Banda , Giorgio Tasca , Laura Costa Comellas , Audrey Benezit , Helge Amthor , Ivana Dabaj , Clara Gontijo Camelo , Pascal Laforêt , John Rendu , Norma B Romero , Eliana Cavassa , Fabiana Fattori , Christophe Beroud , Jana Zídková , Nicolas Leboucq , Nicoline Løkken , Ángel Sanchez-Montañez , Ximena Ortega , Martin Kynčl , Corinne Metay , David Gómez-Andrés , Robert Y Carlier

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.

Brain : a journal of neurology

Avec: Jorge Alonso-Pérez , Lidia González-Quereda , Luca Bello , Michela Guglieri , Volker Straub , Pia Gallano , Claudio Semplicini , Elena Pegoraro , Vittoria Zangaro , Andrés Nascimento , Carlos Ortez , Giacomo Pietro Comi , Leroy Ten Dam , Marianne De Visser , A J van der Kooi , Cristina Garrido , Manuela Santos , Ulrike Schara , Andrea Gangfuß , Nicoline Løkken , Jesper Helbo Storgaard , John Vissing , Benedikt Schoser , Gabriele Dekomien , Bjarne Udd , Johanna Palmio , Adele D'Amico , Luisa Politano , Vincenzo Nigro , Claudio Bruno , Chiara Panicucci , Anna Sarkozy , Omar Abdel-Mannan , Alicia Alonso-Jimenez , Kristl G Claeys , David Gomez-Andrés , Francina Munell , Laura Costa-Comellas , Jana Haberlová , Marie Rohlenová , De Vos Elke , Jan L De Bleecker , Cristina Dominguez-González , Giorgio Tasca , Claudia Weiss , Nicolas Deconinck , Roberto Fernández-Torrón , Adolfo López de Munain , Ana Camacho-Salas , Béla Melegh , Kinga Hadzsiev , Lea Leonardis , Blaz Koritnik , Matteo Garibaldi , Juan Carlos de Leon-Hernández , Edoardo Malfatti , Arturo Fraga-Bau , Isabelle Richard , Isabel Illa , Jordi Díaz-Manera

Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.

Orphanet journal of rare diseases

Avec: Cristina Domínguez-González , Marcos Madruga-Garrido , Michio Hirano , Itxaso Martí , Miguel A Martín , Francina Munell , Andrés Nascimento , Montse Olivé , Joanne Quan , M Dolores Sardina , Ramon Martí , Carmen Paradas

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

Neurologia

Avec: I Pitarch Castellano , M Cabrera-Serrano , R Calvo Medina , M G Cattinari , S Espinosa García , J A Fernández-Ramos , O García Campos , D Gómez-Andrés , M A Grimalt Calatayud , A J Gutiérrez Martínez , E Ibáñez Albert , S Kapetanovic García , M Madruga-Garrido , M Martínez-Moreno , J Medina Cantillo , A I Melián Suárez , A Moreno Escribano , F Munell , A Nascimento Osorio , S I Pascual-Pascual , M Povedano , I M Santana Casiano , J F Vázquez-Costa

Deep Molecular Characterization of Milder Spinal Muscular Atrophy Patients Carrying the c.859G>C Variant in SMN2

International journal of molecular sciences

Avec: Laura Blasco-Pérez , Mar Costa-Roger , Jordi Leno-Colorado , Sara Bernal , Laura Alias , Marta Codina-Solà , Desirée Martínez-Cruz , Claudia Castiglioni , Enrico Bertini , Lorena Travaglini , José M Millán , Elena Aller , Javier Sotoca , Raúl Juntas , Christina Engel Hoei-Hansen , Antonio Moreno-Escribano , Encarna Guillén-Navarro , Laura Costa-Comellas , Francina Munell , Susana Boronat , Ricardo Rojas-García , Mónica Povedano , Ivon Cuscó , Eduardo F Tizzano

Réseau de co-auteurs

Francina Munell 12 collaborations

Michio Hirano 3 collaborations

Alfons Macaya 3 collaborations

Edoardo Malfatti 3 collaborations

Claudia Castiglioni 3 collaborations

Bjarne Udd 3 collaborations

Andrés Nascimento 3 collaborations

Giorgio Tasca 3 collaborations

Marina Dusl 2 collaborations

Jan Senderek 2 collaborations

Cristina Domínguez-González 2 collaborations

Marcos Madruga-Garrido 2 collaborations

Itxaso Martí 2 collaborations

M Dolores Sardina 2 collaborations

Ramon Martí 2 collaborations

Carmen Paradas 2 collaborations

Carlos Ortez 2 collaborations

David Gómez-Andrés 2 collaborations

Susana Quijano-Roy 2 collaborations

John Vissing 2 collaborations

Nicoline Løkken 2 collaborations

Laura Costa-Comellas 2 collaborations

Pedro M Rodríguez Cruz 1 collaboration

Judith Cossins 1 collaboration

Eduardo de Paula Estephan 1 collaboration

Kathryn Selby 1 collaboration

Reza Maroofin 1 collaboration

Mohammad Yahya Vahidi Mehrjardi 1 collaboration

Gabriel Chow 1 collaboration

Aisling Carr 1 collaboration

Adnan Manzur 1 collaboration

Stephanie Robb 1 collaboration

Pinki Munot 1 collaboration

Wei Wei Liu 1 collaboration

Siddharth Banka 1 collaboration

Harry Fraser 1 collaboration

Christian De Goede 1 collaboration

Edmar Zanoteli 1 collaboration

Umbertina Conti Reed 1 collaboration

Abigail Sage 1 collaboration

Margarida Gratacos 1 collaboration

Ana Töpf 1 collaboration

Monika Hofer 1 collaboration

Ravi Knight 1 collaboration

Sithara Ramdas 1 collaboration

Sandeep Jayawant 1 collaboration

Hans Lochmüller 1 collaboration

Jacqueline Palace 1 collaboration

David Beeson 1 collaboration

Maria Francesca Di Feo 1 collaboration

Ali Oghabian 1 collaboration

Ella Nippala 1 collaboration

Mathias Gautel 1 collaboration

Heinz Jungbluth 1 collaboration

Francesca Forzano 1 collaboration

Ilona Krey 1 collaboration

David Gomez Andres 1 collaboration

Angela F Brady 1 collaboration

Maria Iascone 1 collaboration

Anna Cereda 1 collaboration

Lidia Pezzani 1 collaboration

Daniel Natera De Benito 1 collaboration

Andres Nascimiento Osorio 1 collaboration

Berta Estévez Arias 1 collaboration

Sergei A Kurbatov 1 collaboration

Tania Attie-Bitach 1 collaboration

Sheela Nampoothiri 1 collaboration

Erin Ryan 1 collaboration

Michelle Morrow 1 collaboration

Svetlana Gorokhova 1 collaboration

Brigitte Chabrol 1 collaboration

Juha Sinisalo 1 collaboration

Heli Tolppanen 1 collaboration

Johanna Tolva 1 collaboration

Jessica Camacho Soriano 1 collaboration

Maria Angeles Sanchez Duran 1 collaboration

Mridul Johari 1 collaboration

Homa Tajsharghi 1 collaboration

Peter Hackman 1 collaboration

Marco Savarese 1 collaboration

Fabiola Mavillard 1 collaboration

Caterina Garone 1 collaboration

Francisco Javier Aguirre-Rodríguez 1 collaboration

M Alice Donati 1 collaboration

Karin Kleinsteuber 1 collaboration

Elena Martín-Hernández 1 collaboration

Juan P Morealejo-Aycinena 1 collaboration

Susana G Kalko 1 collaboration

Concepcion Álvarez Del Vayo 1 collaboration

Olga Serrano 1 collaboration

Yuelin Long 1 collaboration

Yuqi Tu 1 collaboration

Bruce Levin 1 collaboration

John L P Thompson 1 collaboration

Kristen Engelstad 1 collaboration

Jasim Uddin 1 collaboration

Javier Torres-Torronteras 1 collaboration

Cecilia Jimenez-Mallebrera 1 collaboration

Payam Mohassel 1 collaboration

Pomi Yun 1 collaboration

Safoora Syeda 1 collaboration

Abhinandan Batra 1 collaboration

Andrew J Bradley 1 collaboration

Sandra Donkervoort 1 collaboration

Soledad Monges 1 collaboration

Julie S Cohen 1 collaboration

Doris G Leung 1 collaboration

Angel Sánchez-Montáñez 1 collaboration

Peter Karachunski 1 collaboration

John Brandsema 1 collaboration

Livija Medne 1 collaboration

Vinay Chaudhry 1 collaboration

A Reghan Foley 1 collaboration

Andrew E Arai 1 collaboration

Glenn A Walter 1 collaboration

Carsten G Bönnemann 1 collaboration

Mattia Bosio 1 collaboration

Oliver Drechsel 1 collaboration

Rubayte Rahman 1 collaboration

Francesc Muyas 1 collaboration

Raquel Rabionet 1 collaboration

Daniela Bezdan 1 collaboration

Laura Domenech Salgado 1 collaboration

Hyun Hor 1 collaboration

Jean-Jacques Schott 1 collaboration

Roger Colobran 1 collaboration

Xavier Estivill 1 collaboration

Stephan Ossowski 1 collaboration

Jorge Díaz 1 collaboration

Ángel Sánchez-Montáñez 1 collaboration

Irene Pulido-Valdeolivas 1 collaboration

Lionel Suazo 1 collaboration

Cristián Garrido 1 collaboration

Jorge A Bevilacqua 1 collaboration

Teresa Moreno 1 collaboration

Margarida Gratacòs 1 collaboration

Angela Abicht 1 collaboration

Tim M Strom 1 collaboration

Hanns Lochmüller 1 collaboration

Alba Sansa 1 collaboration

Ivan Hidalgo 1 collaboration

Maria P Miralles 1 collaboration

Sandra de la Fuente 1 collaboration

M Jose Perez-Garcia 1 collaboration

Rosa M Soler 1 collaboration

Ana Garcera 1 collaboration

Jana Haberlova 1 collaboration

François Rivier 1 collaboration

Tanya Stojkovic 1 collaboration

Marta Gómez García de la Banda 1 collaboration

Laura Costa Comellas 1 collaboration

Audrey Benezit 1 collaboration

Helge Amthor 1 collaboration

Ivana Dabaj 1 collaboration

Clara Gontijo Camelo 1 collaboration

Pascal Laforêt 1 collaboration

John Rendu 1 collaboration

Norma B Romero 1 collaboration

Eliana Cavassa 1 collaboration

Fabiana Fattori 1 collaboration

Christophe Beroud 1 collaboration

Jana Zídková 1 collaboration

Nicolas Leboucq 1 collaboration

Ángel Sanchez-Montañez 1 collaboration

Ximena Ortega 1 collaboration

Martin Kynčl 1 collaboration

Corinne Metay 1 collaboration

Robert Y Carlier 1 collaboration

Jorge Alonso-Pérez 1 collaboration

Lidia González-Quereda 1 collaboration

Luca Bello 1 collaboration

Michela Guglieri 1 collaboration

Volker Straub 1 collaboration

Pia Gallano 1 collaboration

Claudio Semplicini 1 collaboration

Elena Pegoraro 1 collaboration

Vittoria Zangaro 1 collaboration

Giacomo Pietro Comi 1 collaboration

Leroy Ten Dam 1 collaboration

Marianne De Visser 1 collaboration

A J van der Kooi 1 collaboration

Cristina Garrido 1 collaboration

Manuela Santos 1 collaboration

Ulrike Schara 1 collaboration

Andrea Gangfuß 1 collaboration

Jesper Helbo Storgaard 1 collaboration

Benedikt Schoser 1 collaboration

Gabriele Dekomien 1 collaboration

Johanna Palmio 1 collaboration

Adele D'Amico 1 collaboration

Luisa Politano 1 collaboration

Vincenzo Nigro 1 collaboration

Claudio Bruno 1 collaboration

Chiara Panicucci 1 collaboration

Anna Sarkozy 1 collaboration

Omar Abdel-Mannan 1 collaboration

Alicia Alonso-Jimenez 1 collaboration

Kristl G Claeys 1 collaboration

David Gomez-Andrés 1 collaboration

Jana Haberlová 1 collaboration

Marie Rohlenová 1 collaboration

De Vos Elke 1 collaboration

Jan L De Bleecker 1 collaboration

Cristina Dominguez-González 1 collaboration

Claudia Weiss 1 collaboration

Nicolas Deconinck 1 collaboration

Roberto Fernández-Torrón 1 collaboration

Adolfo López de Munain 1 collaboration

Ana Camacho-Salas 1 collaboration

Béla Melegh 1 collaboration

Kinga Hadzsiev 1 collaboration

Lea Leonardis 1 collaboration

Blaz Koritnik 1 collaboration

Matteo Garibaldi 1 collaboration

Juan Carlos de Leon-Hernández 1 collaboration

Arturo Fraga-Bau 1 collaboration

Isabelle Richard 1 collaboration

Isabel Illa 1 collaboration

Jordi Díaz-Manera 1 collaboration

Miguel A Martín 1 collaboration

Montse Olivé 1 collaboration

Joanne Quan 1 collaboration

I Pitarch Castellano 1 collaboration

M Cabrera-Serrano 1 collaboration

R Calvo Medina 1 collaboration

M G Cattinari 1 collaboration

S Espinosa García 1 collaboration

J A Fernández-Ramos 1 collaboration

O García Campos 1 collaboration

D Gómez-Andrés 1 collaboration

M A Grimalt Calatayud 1 collaboration

A J Gutiérrez Martínez 1 collaboration

E Ibáñez Albert 1 collaboration

S Kapetanovic García 1 collaboration

M Madruga-Garrido 1 collaboration

M Martínez-Moreno 1 collaboration

J Medina Cantillo 1 collaboration

A I Melián Suárez 1 collaboration

A Moreno Escribano 1 collaboration

A Nascimento Osorio 1 collaboration

S I Pascual-Pascual 1 collaboration

M Povedano 1 collaboration

I M Santana Casiano 1 collaboration

J F Vázquez-Costa 1 collaboration

Laura Blasco-Pérez 1 collaboration

Mar Costa-Roger 1 collaboration

Jordi Leno-Colorado 1 collaboration

Sara Bernal 1 collaboration

Laura Alias 1 collaboration

Marta Codina-Solà 1 collaboration

Desirée Martínez-Cruz 1 collaboration

Enrico Bertini 1 collaboration

Lorena Travaglini 1 collaboration

José M Millán 1 collaboration

Elena Aller 1 collaboration

Javier Sotoca 1 collaboration

Raúl Juntas 1 collaboration

Christina Engel Hoei-Hansen 1 collaboration

Antonio Moreno-Escribano 1 collaboration

Encarna Guillén-Navarro 1 collaboration

Susana Boronat 1 collaboration

Ricardo Rojas-García 1 collaboration

Mónica Povedano 1 collaboration

Ivon Cuscó 1 collaboration

Eduardo F Tizzano 1 collaboration