M Cabrera-Serrano

Affiliations

Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, WA, Australia.
Neurology Department, Hospital Universitario Virgen del Rocío, Seville, Spain.
Instituto de Biomedicina de Sevilla (IBiS), Hospital Universitario Virgen del Rocıo/CSIC, Universidad de Sevilla, Sevilla, Spain.
Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.

Publications (16)

Novel ANO5 intronic Roma variant alters splicing causing muscular dystrophy.

Clinical genetics

Avec: Fabiola Mavillard , Emilia Servián-Morilla , Eloy Rivas , Carmen Paradas , Macarena Cabrera-Serrano

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Nature communications

Avec: Montse Olivé , Martin Engvall , Gianina Ravenscroft , Macarena Cabrera-Serrano , Hong Jiao , Carlo Augusto Bortolotti , Marcello Pignataro , Matteo Lambrughi , Haibo Jiang , Alistair R R Forrest , Núria Benseny-Cases , Stefan Hofbauer , Christian Obinger , Gianantonio Battistuzzi , Marzia Bellei , Marco Borsari , Giulia Di Rocco , Helena M Viola , Livia C Hool , Josep Cladera , Kristina Lagerstedt-Robinson , Fengqing Xiang , Anna Wredenberg , Francesc Miralles , Juan José Baiges , Edoardo Malfatti , Norma B Romero , Nathalie Streichenberger , Christophe Vial , Kristl G Claeys , Chiara S M Straathof , An Goris , Christoph Freyer , Martin Lammens , Guillaume Bassez , Juha Kere , Paula Clemente , Thomas Sejersen , Bjarne Udd , Noemí Vidal , Isidre Ferrer , Lars Edström , Anna Wedell , Nigel G Laing

Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.

Neurology(R) neuroimmunology & neuroinflammation

Avec: Lorena Martín-Aguilar , Cinta Lleixà , Elba Pascual-Goñi , Marta Caballero-Ávila , Laura Martínez-Martínez , Jordi Díaz-Manera , Ricard Rojas-García , Elena Cortés-Vicente , Janina Turon-Sans , Noemi de Luna , Xavier Suárez-Calvet , Eduard Gallardo , Yusuf Rajabally , Sangeeta Scotton , Bart C Jacobs , Adája Baars , Andrea Cortese , Elisa Vegezzi , Romana Höftberger , Fritz Zimprich , Cornelia Roesler , Eduardo Nobile-Orazio , Giuseppe Liberatore , Fu Liong Hiew , Alicia Martínez-Piñeiro , Alejandra Carvajal , Raquel Piñar-Morales , Mercedes Usón-Martín , Olalla Albertí , Maria Ángeles López-Pérez , Fabian Márquez , Julio Pardo-Fernández , Laura Muñoz-Delgado , Macarena Cabrera-Serrano , Nicolau Ortiz , Manuel Bartolomé , Özgür Duman , Vera Bril , Darwin Segura-Chávez , Kalliopi Pitarokoili , Claudia Steen , Isabel Illa , Luis Querol

Bi-allelic loss-of-function OBSCN variants predispose individuals to severe recurrent rhabdomyolysis.

Brain : a journal of neurology

Avec: Macarena Cabrera-Serrano , Laure Caccavelli , Marco Savarese , Anna Vihola , Manu Jokela , Mridul Johari , Thierry Capiod , Marine Madrange , Enrico Bugiardini , Stefen Brady , Rosaline Quinlivan , Ashirwad Merve , Renata Scalco , David Hilton-Jones , Henry Houlden , Halil Ibrahim Aydin , Serdar Ceylaner , Sarah Drewes , Jerry Vockley , Rhonda L Taylor , Chiara Folland , Aasta Kelly , Hayley Goullee , Emil Ylikallio , Mari Auranen , Henna Tyynismaa , Bjarne Udd , Alistair R R Forrest , Mark R Davis , Drago Bratkovic , Nicholas Manton , Thomas Robertson , Cullen O'Gorman , Pamela McCombe , Nigel G Laing , Liza Phillips , Pascale de Lonlay , Gianina Ravenscroft

Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

Annals of clinical and translational neurology

Avec: Sarah J Beecroft , Kyle S Yau , Richard J N Allcock , Kym Mina , Rebecca Gooding , Fathimath Faiz , Vanessa J Atkinson , Cheryl Wise , Padma Sivadorai , Daniel Trajanoski , Nina Kresoje , Royston Ong , Rachael M Duff , Macarena Cabrera-Serrano , Kristen J Nowak , Nicholas Pachter , Gianina Ravenscroft , Phillipa J Lamont , Mark R Davis , Nigel G Laing

Recent advances in our understanding of genetic rhabdomyolysis.

Current opinion in neurology

Avec: Macarena Cabrera-Serrano , Gianina Ravenscroft

Heterozygous CAPN3 missense variants causing autosomal-dominant calpainopathy in seven unrelated families.

Neuropathology and applied neurobiology

Avec: L González-Mera , G Ravenscroft , M Cabrera-Serrano , N Ermolova , C Domínguez-González , A Arteche-López , P Soltanzadeh , F Evesson , C Navas , F Mavillard , J Clayton , P Rodrigo , E Servián-Morilla , S T Cooper , L Waddell , K Reardon , A Corbett , A Hernandez-Laín , A Sanchez , J Esteban Perez , C Paradas-Lopez , E Rivas-Infante , M Spencer , N Laing , M Olivé

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Acta neuropathologica communications

Avec: E Servián-Morilla , M Cabrera-Serrano , E Rivas-Infante , A Carvajal , P J Lamont , A L Pelayo-Negro , G Ravenscroft , R Junckerstorff , J M Dyke , S Fletcher , A M Adams , F Mavillard , M A Fernández-García , J L Nieto-González , N G Laing , C Paradas

A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.

Human molecular genetics

Avec: Lein N H Dofash , Gavin V Monahan , Emilia Servián-Morilla , Eloy Rivas , Fathimath Faiz , Patricia Sullivan , Emily Oates , Joshua Clayton , Rhonda L Taylor , Mark R Davis , Traude Beilharz , Nigel G Laing , Macarena Cabrera-Serrano , Gianina Ravenscroft

NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.

Annals of clinical and translational neurology

Avec: Fabiola Mavillard , Marcos Madruga-Garrido , Eloy Rivas , Emilia Servián-Morilla , Rainiero Ávila-Polo , Irene Marcos , Francisco J Morón , Carmen Paradas , Macarena Cabrera-Serrano

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.

Acta neuropathologica

Avec: E Servián-Morilla , M Cabrera-Serrano , K Johnson , A Pandey , A Ito , E Rivas , T Chamova , N Muelas , T Mongini , S Nafissi , K G Claeys , R P Grewal , M Takeuchi , H Hao , C Bönnemann , O Lopes Abath Neto , L Medne , J Brandsema , A Töpf , A Taneva , J J Vilchez , I Tournev , R S Haltiwanger , H Takeuchi , H Jafar-Nejad , V Straub , Carmen Paradas

A homozygous

Journal of medical genetics

Avec: Macarena Cabrera-Serrano , David Joseph Coote , Dimitar Azmanov , Hayley Goullee , Erik Andersen , Catriona McLean , Mark Davis , Ryosuke Ishimura , Zornitza Stark , Jean-Michel Vallat , Masaaki Komatsu , Andrew Kornberg , Monique Ryan , Nigel G Laing , Gina Ravenscroft

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in

Brain communications

Avec: Maryam Sedghi , Ali-Reza Moslemi , Macarena Cabrera-Serrano , Behnaz Ansari , Majid Ghasemi , Mojtaba Baktashian , Ali Fattahpour , Homa Tajsharghi

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

Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.

Brain : a journal of neurology

Avec: Fabiola Mavillard , Emilia Servian-Morilla , Lein Dofash , Iñigo Rojas-Marcos , Chiara Folland , Gavin Monahan , Gerardo Gutierrez-Gutierrez , Eloy Rivas , Aurelio Hernández-Lain , Amador Valladares , Gloria Cantero , Jose M Morales , Nigel G Laing , Carmen Paradas , Gianina Ravenscroft , Macarena Cabrera-Serrano

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.

Nature communications

Avec: Andrea Cortese , Sarah J Beecroft , Stefano Facchini , Riccardo Curro , Macarena Cabrera-Serrano , Igor Stevanovski , Sanjog R Chintalaphani , Hasindu Gamaarachchi , Ben Weisburd , Chiara Folland , Gavin Monahan , Carolin K Scriba , Lein Dofash , Mridul Johari , Bianca R Grosz , Melina Ellis , Liam G Fearnley , Rick Tankard , Justin Read , Ashirwad Merve , Natalia Dominik , Elisa Vegezzi , Ricardo P Schnekenberg , Gorka Fernandez-Eulate , Marion Masingue , Diane Giovannini , Martin B Delatycki , Elsdon Storey , Mac Gardner , David J Amor , Garth Nicholson , Steve Vucic , Robert D Henderson , Thomas Robertson , Jason Dyke , Vicki Fabian , Frank Mastaglia , Mark R Davis , Marina Kennerson , Auteur inconnu , Ros Quinlivan , Simon Hammans , Arianna Tucci , Melanie Bahlo , Catriona A McLean , Nigel G Laing , Tanya Stojkovic , Henry Houlden , Michael G Hanna , Ira W Deveson , Paul J Lockhart , Phillipa J Lamont , Michael C Fahey , Enrico Bugiardini , Gianina Ravenscroft

Réseau de co-auteurs

Macarena Cabrera-Serrano 12 collaborations

Gianina Ravenscroft 7 collaborations

Nigel G Laing 7 collaborations

Eloy Rivas 4 collaborations

Carmen Paradas 4 collaborations

Mark R Davis 4 collaborations

Fabiola Mavillard 3 collaborations

Emilia Servián-Morilla 3 collaborations

Chiara Folland 3 collaborations

E Servián-Morilla 3 collaborations

Alistair R R Forrest 2 collaborations

Bjarne Udd 2 collaborations

Andrea Cortese 2 collaborations

Elisa Vegezzi 2 collaborations

Mridul Johari 2 collaborations

Enrico Bugiardini 2 collaborations

Ashirwad Merve 2 collaborations

Henry Houlden 2 collaborations

Rhonda L Taylor 2 collaborations

Hayley Goullee 2 collaborations

Thomas Robertson 2 collaborations

Sarah J Beecroft 2 collaborations

Fathimath Faiz 2 collaborations

Phillipa J Lamont 2 collaborations

G Ravenscroft 2 collaborations

F Mavillard 2 collaborations

E Rivas-Infante 2 collaborations

Lein Dofash 2 collaborations

Gavin Monahan 2 collaborations

Montse Olivé 1 collaboration

Martin Engvall 1 collaboration

Hong Jiao 1 collaboration

Carlo Augusto Bortolotti 1 collaboration

Marcello Pignataro 1 collaboration

Matteo Lambrughi 1 collaboration

Haibo Jiang 1 collaboration

Núria Benseny-Cases 1 collaboration

Stefan Hofbauer 1 collaboration

Christian Obinger 1 collaboration

Gianantonio Battistuzzi 1 collaboration

Marzia Bellei 1 collaboration

Marco Borsari 1 collaboration

Giulia Di Rocco 1 collaboration

Helena M Viola 1 collaboration

Livia C Hool 1 collaboration

Josep Cladera 1 collaboration

Kristina Lagerstedt-Robinson 1 collaboration

Fengqing Xiang 1 collaboration

Anna Wredenberg 1 collaboration

Francesc Miralles 1 collaboration

Juan José Baiges 1 collaboration

Edoardo Malfatti 1 collaboration

Norma B Romero 1 collaboration

Nathalie Streichenberger 1 collaboration

Christophe Vial 1 collaboration

Kristl G Claeys 1 collaboration

Chiara S M Straathof 1 collaboration

An Goris 1 collaboration

Christoph Freyer 1 collaboration

Martin Lammens 1 collaboration

Guillaume Bassez 1 collaboration

Juha Kere 1 collaboration

Paula Clemente 1 collaboration

Thomas Sejersen 1 collaboration

Noemí Vidal 1 collaboration

Isidre Ferrer 1 collaboration

Lars Edström 1 collaboration

Anna Wedell 1 collaboration

Lorena Martín-Aguilar 1 collaboration

Cinta Lleixà 1 collaboration

Elba Pascual-Goñi 1 collaboration

Marta Caballero-Ávila 1 collaboration

Laura Martínez-Martínez 1 collaboration

Jordi Díaz-Manera 1 collaboration

Ricard Rojas-García 1 collaboration

Elena Cortés-Vicente 1 collaboration

Janina Turon-Sans 1 collaboration

Noemi de Luna 1 collaboration

Xavier Suárez-Calvet 1 collaboration

Eduard Gallardo 1 collaboration

Yusuf Rajabally 1 collaboration

Sangeeta Scotton 1 collaboration

Bart C Jacobs 1 collaboration

Adája Baars 1 collaboration

Romana Höftberger 1 collaboration

Fritz Zimprich 1 collaboration

Cornelia Roesler 1 collaboration

Eduardo Nobile-Orazio 1 collaboration

Giuseppe Liberatore 1 collaboration

Fu Liong Hiew 1 collaboration

Alicia Martínez-Piñeiro 1 collaboration

Alejandra Carvajal 1 collaboration

Raquel Piñar-Morales 1 collaboration

Mercedes Usón-Martín 1 collaboration

Olalla Albertí 1 collaboration

Maria Ángeles López-Pérez 1 collaboration

Fabian Márquez 1 collaboration

Julio Pardo-Fernández 1 collaboration

Laura Muñoz-Delgado 1 collaboration

Nicolau Ortiz 1 collaboration

Manuel Bartolomé 1 collaboration

Özgür Duman 1 collaboration

Vera Bril 1 collaboration

Darwin Segura-Chávez 1 collaboration

Kalliopi Pitarokoili 1 collaboration

Claudia Steen 1 collaboration

Isabel Illa 1 collaboration

Luis Querol 1 collaboration

Laure Caccavelli 1 collaboration

Marco Savarese 1 collaboration

Anna Vihola 1 collaboration

Manu Jokela 1 collaboration

Thierry Capiod 1 collaboration

Marine Madrange 1 collaboration

Stefen Brady 1 collaboration

Rosaline Quinlivan 1 collaboration

Renata Scalco 1 collaboration

David Hilton-Jones 1 collaboration

Halil Ibrahim Aydin 1 collaboration

Serdar Ceylaner 1 collaboration

Sarah Drewes 1 collaboration

Jerry Vockley 1 collaboration

Aasta Kelly 1 collaboration

Emil Ylikallio 1 collaboration

Mari Auranen 1 collaboration

Henna Tyynismaa 1 collaboration

Drago Bratkovic 1 collaboration

Nicholas Manton 1 collaboration

Cullen O'Gorman 1 collaboration

Pamela McCombe 1 collaboration

Liza Phillips 1 collaboration

Pascale de Lonlay 1 collaboration

Kyle S Yau 1 collaboration

Richard J N Allcock 1 collaboration

Kym Mina 1 collaboration

Rebecca Gooding 1 collaboration

Vanessa J Atkinson 1 collaboration

Cheryl Wise 1 collaboration

Padma Sivadorai 1 collaboration

Daniel Trajanoski 1 collaboration

Nina Kresoje 1 collaboration

Royston Ong 1 collaboration

Rachael M Duff 1 collaboration

Kristen J Nowak 1 collaboration

Nicholas Pachter 1 collaboration

L González-Mera 1 collaboration

N Ermolova 1 collaboration

C Domínguez-González 1 collaboration

A Arteche-López 1 collaboration

P Soltanzadeh 1 collaboration

F Evesson 1 collaboration

C Navas 1 collaboration

J Clayton 1 collaboration

P Rodrigo 1 collaboration

S T Cooper 1 collaboration

L Waddell 1 collaboration

K Reardon 1 collaboration

A Corbett 1 collaboration

A Hernandez-Laín 1 collaboration

A Sanchez 1 collaboration

J Esteban Perez 1 collaboration

C Paradas-Lopez 1 collaboration

M Spencer 1 collaboration

N Laing 1 collaboration

M Olivé 1 collaboration

A Carvajal 1 collaboration

P J Lamont 1 collaboration

A L Pelayo-Negro 1 collaboration

R Junckerstorff 1 collaboration

J M Dyke 1 collaboration

S Fletcher 1 collaboration

A M Adams 1 collaboration

M A Fernández-García 1 collaboration

J L Nieto-González 1 collaboration

N G Laing 1 collaboration

C Paradas 1 collaboration

Lein N H Dofash 1 collaboration

Gavin V Monahan 1 collaboration

Patricia Sullivan 1 collaboration

Emily Oates 1 collaboration

Joshua Clayton 1 collaboration

Traude Beilharz 1 collaboration

Marcos Madruga-Garrido 1 collaboration

Rainiero Ávila-Polo 1 collaboration

Irene Marcos 1 collaboration

Francisco J Morón 1 collaboration

K Johnson 1 collaboration

A Pandey 1 collaboration

A Ito 1 collaboration

E Rivas 1 collaboration

T Chamova 1 collaboration

N Muelas 1 collaboration

T Mongini 1 collaboration

S Nafissi 1 collaboration

K G Claeys 1 collaboration

R P Grewal 1 collaboration

M Takeuchi 1 collaboration

H Hao 1 collaboration

C Bönnemann 1 collaboration

O Lopes Abath Neto 1 collaboration

L Medne 1 collaboration

J Brandsema 1 collaboration

A Töpf 1 collaboration

A Taneva 1 collaboration

J J Vilchez 1 collaboration

I Tournev 1 collaboration

R S Haltiwanger 1 collaboration

H Takeuchi 1 collaboration

H Jafar-Nejad 1 collaboration

V Straub 1 collaboration

David Joseph Coote 1 collaboration

Dimitar Azmanov 1 collaboration

Erik Andersen 1 collaboration

Catriona McLean 1 collaboration

Mark Davis 1 collaboration

Ryosuke Ishimura 1 collaboration

Zornitza Stark 1 collaboration

Jean-Michel Vallat 1 collaboration

Masaaki Komatsu 1 collaboration

Andrew Kornberg 1 collaboration

Monique Ryan 1 collaboration

Gina Ravenscroft 1 collaboration

Maryam Sedghi 1 collaboration

Ali-Reza Moslemi 1 collaboration

Behnaz Ansari 1 collaboration

Majid Ghasemi 1 collaboration

Mojtaba Baktashian 1 collaboration

Ali Fattahpour 1 collaboration

Homa Tajsharghi 1 collaboration

I Pitarch Castellano 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

F Munell 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

Emilia Servian-Morilla 1 collaboration

Iñigo Rojas-Marcos 1 collaboration

Gerardo Gutierrez-Gutierrez 1 collaboration

Aurelio Hernández-Lain 1 collaboration

Amador Valladares 1 collaboration

Gloria Cantero 1 collaboration

Jose M Morales 1 collaboration

Stefano Facchini 1 collaboration

Riccardo Curro 1 collaboration

Igor Stevanovski 1 collaboration

Sanjog R Chintalaphani 1 collaboration

Hasindu Gamaarachchi 1 collaboration

Ben Weisburd 1 collaboration

Carolin K Scriba 1 collaboration

Bianca R Grosz 1 collaboration

Melina Ellis 1 collaboration

Liam G Fearnley 1 collaboration

Rick Tankard 1 collaboration

Justin Read 1 collaboration

Natalia Dominik 1 collaboration

Ricardo P Schnekenberg 1 collaboration

Gorka Fernandez-Eulate 1 collaboration

Marion Masingue 1 collaboration

Diane Giovannini 1 collaboration

Martin B Delatycki 1 collaboration

Elsdon Storey 1 collaboration

Mac Gardner 1 collaboration

David J Amor 1 collaboration

Garth Nicholson 1 collaboration

Steve Vucic 1 collaboration

Robert D Henderson 1 collaboration

Jason Dyke 1 collaboration

Vicki Fabian 1 collaboration

Frank Mastaglia 1 collaboration

Marina Kennerson 1 collaboration

None None 1 collaboration

Ros Quinlivan 1 collaboration

Simon Hammans 1 collaboration

Arianna Tucci 1 collaboration

Melanie Bahlo 1 collaboration

Catriona A McLean 1 collaboration

Tanya Stojkovic 1 collaboration

Michael G Hanna 1 collaboration

Ira W Deveson 1 collaboration

Paul J Lockhart 1 collaboration

Michael C Fahey 1 collaboration