Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases

Many rare diseases of genetic origin affect neurodevelopment, causing severe motor problems that are difficult to treat. Our team uses a multidisciplinary approach to develop personalized treatments based on precision medicine with these objectives:

Early and precision diagnosis by applying technological advances in genetics and imaging of the nervous system.
Clinical and preclinical development of advanced therapies and facilitation of access to those already available.
Deep brain stimulation program for symptomatic treatment of refractory movement disorders.
Technological innovation and digital transformation of rare diseases.

Our team promotes clinical and translational research in hospital care programs, such as units specialized in Dystonia and other Movement Disorders, Ataxias and Paraparesis, the Fetal Medicine Unit for Prenatal Diagnosis of Neurological Diseases and the Gene Therapy group for Neuromuscular pathology. Our researchers lead projects in the ERN-RND.

Team

Belen Perez Dueñas

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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David Gómez Andrés

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Anna Marcé Grau

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Milagros Carusillo Surballe

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Ana Laura Cazurro Gutierrez

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
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Belen Perez Dueñas

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more

David Gómez Andrés

Head of group
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more

Anna Marcé Grau

Main researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more

Milagros Carusillo Surballe

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more

Ana Laura Cazurro Gutierrez

Predoctoral researcher
Therapeutics and Innovations in Neuropediatrics and other paediatric rare diseases
Read more

Projects

Trio Study in Fetuses with Central Nervous System Malformations (CNS-TRIO Project)

IP: Nerea Maiz Elizaran
Collaborators: Josefa Élida Vázquez Méndez, Marta Codina Solà, Ma Irene Valenzuela Palafoll, Silvia Arévalo Martínez, Carlota Rodó Rodríguez, Eulàlia Rovira Moreno, David Gómez Andrés, Amaia Lasa Aranzasti, Elena Moreno Perez
Funding agency: Fundació La Marató de TV3
Funding: 197000
Reference: 202420-10
Duration: 20/02/2025 - 19/02/2028

PReDICT: Pediatric Stroke Rare Disorders: Integrative Diagnosis and Treatment using Multi-Omics and Deep Learning

IP: Belen Perez Dueñas
Collaborators: Marta Codina Solà, Maria Mar Hernandez Guillamon, Anna Rosell Novel, David Gómez Andrés
Funding agency: Instituto de Salud Carlos III
Funding: 185165.07
Reference: PMPER24/00021
Duration: 01/01/2025 - 31/12/2026

Predictores de eficacia clínica, genética y radiológica en niños y adolescentes con distonía tratados mediante estimulación cerebral profunda

IP: Belen Perez Dueñas
Collaborators: Anna Marcé Grau, Manel Alberich Jordà, Ana Laura Cazurro Gutierrez, Lucy Dougherty de Miguel
Funding agency: Instituto de Salud Carlos III
Funding: 140000
Reference: PI24/01083
Duration: 01/01/2025 - 31/12/2027

TACTIC: Explorando soluciones a los retos de salud mediante ciencia disruptiva, terapias avanzadas y medicina de sistemas

IP: Begoña Benito Villabriga
Collaborators: Carmen Escudero Iriarte, Laia Ventura i Expósito, Susana Otero Romero, Ibane Abasolo Olaortua, Ignacio Ferreira González, José Antonio Barrabés Riu, Carlos Nos Llopis, Pablo Velasco Puyó, Jose Fernando Rodríguez Palomares, María Rosario Pérez- Torres Lobato, Sunny Malhotra Sareen, Belen Perez Dueñas, Jaume Sastre Garriga, Joan López Hellin, Antonia Sambola Ayala, Jordi Rio Izquierdo, Nuria Rivas Gandara, Jordi Perez Rodon, Aroa Soriano Fernández, Manuel Comabella Lopez, Antonio Rodríguez Sinovas, Gisela Teixido Tura, Antonia Pijuan Domenech, Roser Ferrer Costa, Joaquin Seras Franzoso, Carmen Tur Gomez, Maria Cristina Díaz de Heredia Rubio, Laia Yañez Bisbe, Julia German Cortes, Maria Jose Pérez García, Miguel Segura Ginard, Diego Baranda Martínez-Abasca, Cristina Auger Acosta, Neus Bellera Gotarda, Herena Eixarch Ahufinger, M Mar Mañu Pereira, Deborah Pareto Onghena, Lorena Valero Arrese, Aitor Uribarri Gonzalez, Jordi Bañeras Rius, Alex Rovira Cañellas, Mar Tintore Subirana, Bruno García del Blanco, Maria Teresa Salcedo Allende, Marisol Ruiz Meana, Ana Belén Méndez Fernández, Xavier Montalban Gairín, Simon Schwartz Navarro, Anna Llort Sales, Carmen Espejo Ruiz, Raquel Hladun Alvaro, Angels Alcina Mila, Sandra Mancilla Zamora, Zamira Vanessa Diaz Riascos, Ana Zabalza de Torres, Marc Miquel Moltó Abad, Javier Inserte Igual, Luciana Midaglia Fernandez, Elizabeth Pando Rau, Gabriela Guillén Burrieza, Ana Laura Cazurro Gutierrez, David Gómez Andrés, Alvaro Cobo Calvo, Alvaro Calabuig Goena, Joaquin Castillo Justribo, Lydia Dux-Santoy Hurtado, Lucas Moreno Martín-Retortillo, Andres Miguez Gonzalez, Josep Roma Castanyer, Laura Dos Subirá, Nicolás Miguel Fissolo, Maria Nazarena Pizzi, Tian Tian, Fernanda Raquel Da Silva Andrade, Diana Fernandes de Rafael, Andrea Guala
Funding agency: Instituto de Salud Carlos III
Funding: 2494527.53
Reference: FORT23/00034
Duration: 01/01/2024 - 31/12/2027

Publications

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

PMID: 39825153
Journal: NATURE MEDICINE
Year: 2025
Reference: Nat Med. 2025 Jan 17. doi: 10.1038/s41591-024-03420-w.
Impact factor:
Publication type: Paper in international publication
Authors: Aretz, Stefan; Baets, Jonathan; Beltran, Sergi; Benetti, Elisa; Brookes, Anthony J; Brunner, Han G; Bullich, Gemma; Chinnery, Patrick F; Clayton-Smith, Jill; Cohen, Enzo et al.
DOI: 10.1038/s41591-024-03420-w

Historia natural de la distonia mioclonica asociada a variantes de SGCE en ninos y adolescentes.

PMID: 39888844
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2025
Reference: Dev Med Child Neurol. 2025 Jan 31. doi: 10.1111/dmcn.16215.
Impact factor:
Publication type: Paper in international publication
Authors: Cazurro-Gutierrez, Ana; De Francesch, Valeria; Dougherty-de Miguel, Lucia; Espanol-Martin, Gemma; Ferrero-Turrion, Julia; Gomez-Andres, David; Gonzalez, Victoria; Marce-Grau, Anna; Moreno-Galdo, Antonio; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.16215

RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS.

PMID: 39962046
Journal: Nature Communications
Year: 2025
Reference: Nat Commun. 2025 Feb 17;16(1):1703. doi: 10.1038/s41467-025-56876-w.
Impact factor:
Publication type: Paper in international publication
Authors: Abad, Maria Alba; Abdel-Hamid, Mohamed S; Abdel-Salam, Ghada M H; Abou Jamra, Rami; Afzal, Erum; Aggarwal, Vimla S; Al-Sannaa, Nouriya Abbas; Alabdi, Lama; Albert, Dara V F; Alkuraya, Fowzan Sami et al.
DOI: 10.1038/s41467-025-56876-w

Response to Mortimer et al. "Clinical and molecular profiling in GNAO1 permits phenotype-genotype correlation".

PMID: 39548747
Journal: MOVEMENT DISORDERS
Year: 2024
Reference: Mov Disord. 2024 Nov;39(11):2125-2126. doi: 10.1002/mds.30018.
Impact factor:
Publication type: Other (letters to the editor, abstracts, corrigendum, etc.)
Authors: Katanaev, Vladimir L; Lasa-Aranzasti, Amaia; Perez-Duenas, Belen; Solis, Gonzalo P et al.
DOI: 10.1002/mds.30018

IAPRD new consensus classification of myoclonus.

PMID: 39665962
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2024
Reference: Parkinsonism Relat Disord. 2024 Dec 4:107216. doi: 10.1016/j.parkreldis.2024.107216.
Impact factor:
Publication type: Paper in international publication
Authors: Caviness, John N; de Koning-Tijssen, Marina Aj; Erro, Roberto; Frucht, Steven; Ganos, Christos; Hallett, Mark; Latorre, Anna; Pena, Ashley; Perez-Duenas, Belen; Rossi, Malco et al.
DOI: 10.1016/j.parkreldis.2024.107216

Natural history of SGCE-associated myoclonus dystonia in children and adolescents.

PMID: 39679832
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2024
Reference: Dev Med Child Neurol. 2024 Dec 16. doi: 10.1111/dmcn.16214.
Impact factor:
Publication type: Paper in international publication
Authors: Cazurro-Gutierrez, Ana; De Francesch, Valeria; Dougherty-de Miguel, Lucia; Espanol-Martin, Gemma; Ferrero-Turrion, Julia; Gomez-Andres, David; Gonzalez, Victoria; Marce-Grau, Anna; Moreno-Galdo, Antonio; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.16214

Dystonia management across Europe within ERN-RND: current state and future challenges.

PMID: 36201015
Journal: JOURNAL OF NEUROLOGY
Year: 2023
Reference: J Neurol. 2023 Feb;270(2):797-809. doi: 10.1007/s00415-022-11412-4. Epub 2022 Oct 6.
Impact factor:
Publication type: Paper in international publication
Authors: Boesch, Sylvia; Centen, Liesanne M; Graessner, Holm; Kovacs, Norbert; Koy, Anne; Perez-Duenas, Belen; Pinter, David; Reinhard, Carola; Tijssen, Marina A J; van Egmond, Martje E et al.
DOI: 10.1007/s00415-022-11412-4

Early recognition of SGCE-myoclonus-dystonia in children.

PMID: 35723607
Journal: DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
Year: 2023
Reference: Dev Med Child Neurol. 2023 Feb;65(2):207-214. doi: 10.1111/dmcn.15298. Epub 2022 Jun 20.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Ramiro; Carvalho, Joao; Cazurro-Gutierrez, Ana; Correa-Vela, Marta; Ferrero-Turrion, Julia; Gonzalez, Victoria; Macaya-Ruiz, Alfons; Marce-Grau, Anna; Moreno, Antonio; Perez-Duenas, Belen et al.
DOI: 10.1111/dmcn.15298

The Expanding Phenotypical Spectrum of WARS2-Related Disorder: Four Novel Cases with a Common Recurrent Variant.

PMID: 37107582
Journal: Genes
Year: 2023
Reference: Genes (Basel). 2023 Mar 29;14(4):822. doi: 10.3390/genes14040822.
Impact factor:
Publication type: Paper in international publication
Authors: Bozovic, Ivana Babic; Cazurro-Gutierrez, Ana; Diaw, Sokhna Haissatou; Gonzalez, Victoria; Grozinger, Anne; Korenke, G Christoph; Lohmann, Katja; Macaya, Alfons; Maver, Ales; Munchau, Alexander et al.
DOI: 10.3390/genes14040822

Transitional Care for Young People with Movement Disorders: Consensus-Based Recommendations from the MDS Task Force on Pediatrics.

PMID: 37205244
Journal: Movement Disorders Clinical Practice
Year: 2023
Reference: Mov Disord Clin Pract. 2023 Apr 4;10(5):748-755. doi: 10.1002/mdc3.13728. eCollection 2023 May.
Impact factor:
Publication type: Review in international publication
Authors: Batla, Amit; Ben-Pazi, Hilla; Cosentino, Carlos; Dale, Russell C; Ebrahimi-Fakhari, Darius; Friedman, Jennifer; Fung, Victor S C; Hoshino, Kyoko; Kurian, Manju A; Lin, Jean-Pierre et al.
DOI: 10.1002/mdc3.13728

Toward an Automatic Assessment of Cognitive Dysfunction in Relapsing-Remitting Multiple Sclerosis Patients Using Eye Movement Analysis.

PMID: 36365918
Journal: SENSORS
Year: 2022
Reference: Sensors (Basel). 2022 Oct 27;22(21). pii: s22218220. doi: 10.3390/s22218220.
Impact factor:
Publication type: Paper in international publication
Authors: Benito-Leon, Julian; Domingo-Santos, Angela; Garcia Cena, Cecilia E; Gomez-Andres, David; Moreno-Garcia, Sara; Pulido-Valdeolivas, Irene; Sanchez-Seco, Victoria Galan et al.
DOI: 10.3390/s22218220

Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.

PMID: 36233161
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2022
Reference: Int J Mol Sci. 2022 Oct 6;23(19). pii: ijms231911847. doi: 10.3390/ijms231911847.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Andres-Borderia, Amparo; Baviera-Munoz, Raquel; Bernado-Fonz, Raquel; Darling, Alejandra; Duat-Rodriguez, Anna; Espinos, Carmen; Fuster, Candela; Garcia-Ribes, Ainhoa; Gordo, Mar O'Callaghan et al.
DOI: 10.3390/ijms231911847

Acetazolamide Improves Episodic Ataxia in a Patient with Non-Verbal Autism and Paroxysmal Dyskinesia Due To PRRT2 Biallelic Variants.

PMID: 36247910
Journal: Movement Disorders Clinical Practice
Year: 2022
Reference: Mov Disord Clin Pract. 2022 Aug 22;9(7):979-982. doi: 10.1002/mdc3.13528. eCollection 2022 Oct.
Impact factor:
Publication type: Letter or abstract
Authors: Macaya, Alfons; Martorell, Loreto; Ortigoza-Escobar, Juan Dario; Perez-Duenas, Belen et al.
DOI: 10.1002/mdc3.13528

16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency.

PMID: 36096018
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2022
Reference: Parkinsonism Relat Disord. 2022 Oct;103:112-114. doi: 10.1016/j.parkreldis.2022.08.032. Epub 2022 Sep 7.
Impact factor:
Publication type: Letter or abstract
Authors: Bescos, Agustin; Cazurro-Gutierrez, Ana; Gonzalez, Victoria; Ispierto, Lourdes; Lasa-Aranzasti, Amaia; Macaya-Ruiz, Alfons; Moreno-Galdo, Antonio; Perez-Duenas, Belen; Plaja, Alberto; Tardaguila, Manel et al.
DOI: 10.1016/j.parkreldis.2022.08.032

Two decades of advances in muscle imaging in children: from pattern recognition of muscle diseases to quantification and machine learning approaches.

PMID: 34736625
Journal: NEUROMUSCULAR DISORDERS
Year: 2021
Reference: Neuromuscul Disord. 2021 Oct;31(10):1038-1050. doi: 10.1016/j.nmd.2021.08.006. Epub 2021 Oct 9.
Impact factor:
Publication type: Review in international publication
Authors: Gomez-Andres, David; Oulhissane, Amal; Quijano-Roy, Susana et al.
DOI: 10.1016/j.nmd.2021.08.006

[Pain and Achilles tendon shortening in patients with idiopathic toe walking].

PMID: 34676528
Journal: REVISTA DE NEUROLOGIA
Year: 2021
Reference: Rev Neurol. 2021 Nov 1;73(9):307-314. doi: 10.33588/rn.7309.2021228.
Impact factor:
Publication type: Paper in national publication
Authors: Abenza-Albidua, M J; de Gorostegui, A; Fernandez-Jimenez, J; Gomez-Andres, D; Lopez-Lopez, J; Martin-Gonzalo, J A; Perez-Villena, A; Pulido-Valdeolivas, I; Rausell, E et al.
DOI: 10.33588/rn.7309.2021228

Treatment of patients with spinal muscular atrophy 5q: towards a new protocol.

PMID: 34238719
Journal: NEUROLOGIA
Year: 2021
Reference: Neurologia. 2021 Oct;36(8):636-637. doi: 10.1016/j.nrleng.2020.10.005. Epub 2021 Jul 6.
Impact factor:
Publication type: Letter or abstract
Authors: Gomez-Andres, D; Martinez-Moreno, M; Vazquez-Costa, J F et al.
DOI: 10.1016/j.nrl.2020.10.003

International retrospective natural history study of LMNA-related congenital muscular dystrophy.

PMID: 34240052
Journal: Brain communications
Year: 2021
Reference: Brain Commun. 2021 Apr 11;3(3):fcab075. doi: 10.1093/braincomms/fcab075. eCollection 2021 Jul.
Impact factor:
Publication type: Paper in international publication
Authors: Alvarez, Rachel; Ben Yaou, Rabah; Bertoli, Marta; Bonne, Gisele; Bonnemann, Carsten G; Castiglioni, Claudia; D'Amico, Adele; Dabaj, Ivana; Deconinck, Nicolas; Desguerre, Isabelle et al.
DOI: 10.1093/braincomms/fcab075

Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.

PMID: 33629063
Journal: Brain communications
Year: 2020
Reference: Brain Commun. 2020 Oct 26;2(2):fcaa178. doi: 10.1093/braincomms/fcaa178. eCollection 2020.
Impact factor:
Publication type: Paper in international publication
Authors: Angiti, Rajeshwar Reddy; Bhattacharya, Kaustuv; Biggin, Andrew; Chong, W Kling; Dale, Russell C; Goetti, Robert; Gregory, Allison; Hayflick, Susan; Hogarth, Penelope; Kurian, Manju et al.
DOI: 10.1093/braincomms/fcaa178

The European Reference Network for Rare Neurological Diseases.

PMID: 33519696
Journal: Frontiers in Neurology
Year: 2020
Reference: Front Neurol. 2021 Jan 14;11:616569. doi: 10.3389/fneur.2020.616569. eCollection 2020.
Impact factor:
Publication type: Review in international publication
Authors: Bachoud-Levi, Anne-Catherine; Baumer, Tobias; Bertini, Enrico; Brunelle, Alicia; Buizer, Annemieke I; Federico, Antonio; Gasser, Thomas; Graessner, Holm; Groeschel, Samuel; Hermanns, Sanja et al.
DOI: 10.3389/fneur.2020.616569

Immunofluorescence Analysis as a Diagnostic Tool in a Spanish Cohort of Patients with Suspected Primary Ciliary Dyskinesia.

PMID: 33182294
Journal: Journal of Clinical Medicine
Year: 2020
Reference: J Clin Med. 2020 Nov 9;9(11). pii: jcm9113603. doi: 10.3390/jcm9113603.
Impact factor:
Publication type: Paper in international publication
Authors: Amaro-Rodriguez, Rosanel; Amengual-Pieras, Esther; Armengot-Carceller, Miguel; Asensio, Oscar; Baz-Redon, Noelia; Caballero-Rabasco, M Araceli; Camats-Tarruella, Nuria; Castillo-Corullon, Silvia; Cols, Maria; Dasi, Francisco et al.
DOI: 10.3390/jcm9113603

Measurement and Analysis of Eye Movements Performance to Predict Healthy Brain Aging

PMID: NOPMID0079
Journal: IEEE Access
Year: 2020
Reference: IEEE Access. 2020;8:87201-13. doi:10.1109/ACCESS.2020.2992254
Impact factor:
Publication type: Paper in international publication
Authors: Garcia Cena, Cecilia E; Gómez Andrés, David; Pulido Valdeoliva, Irene et al.
DOI: 10.1109/ACCESS.2020.2992254

Sensory Tricks in Pantothenate Kinase-Associated Neurodegeneration: Video-Analysis of 43 Patients.

PMID: 31745482
Journal: Movement disorders clinical practice
Year: 2019
Reference: Mov Disord Clin Pract. 2019 Oct 25;6(8):704-707. doi: 10.1002/mdc3.12842. eCollection 2019 Nov.
Impact factor:
Publication type: Letter or abstract
Authors: Darling, Alejandra; Duenas, Belen Perez; Espinos, Carmen; Garrido, Cristina; Marti, Maria Jose; Martins, Joana; Temudo, Teresa et al.
DOI: 10.1002/mdc3.12842

MYO-MRI diagnostic protocols in genetic myopathies.

PMID: 31727541
Journal: NEUROMUSCULAR DISORDERS
Year: 2019
Reference: Neuromuscul Disord. 2019 Nov;29(11):827-841. doi: 10.1016/j.nmd.2019.08.011. Epub 2019 Sep 16.
Impact factor:
Publication type: Review in international publication
Authors: Bonnemann, Carsten G; Carlier, Robert Y; Chardon, Jodi Warman; Diaz-Manera, Jordi; Gomez-Andres, David; Hanna, Michael; Heerschap, Arend; Jungbluth, Heinz; Mercuri, Eugenio; Morrow, Jasper M et al.
DOI: 10.1016/j.nmd.2019.08.011

Permutation Entropy and Irreversibility in Gait Kinematic Time Series from Patients with Mild Cognitive Decline and Early Alzheimer's Dementia

PMID: NOPMID0062
Journal: Entropy
Year: 2019
Reference: Entropy. 2019 Sep 6;21(9):868. doi:10.3390/e21090868
Impact factor:
Publication type: Paper in international publication
Authors: ; ; ; ; ; ; ; ; ; et al.
DOI: 10.3390/e21090868

Genetic defects of thiamine transport and metabolism: a review of clinical phenotypes, genetics and functional studies.

PMID: 31095747
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2019
Reference: J Inherit Metab Dis. 2019 Jul;42(4):581-597. doi: 10.1002/jimd.12125. Epub 2019 Jun 24.
Impact factor:
Publication type: Review in international publication
Authors: Baide-Mairena, Heidy; Marce-Grau, Anna; Marti-Sanchez, Laura; Ortigoza-Escobar, Juan Dario; Perez-Duenas, Belen et al.
DOI: 10.1002/jimd.12125

Characterizing Normal and Pathological Gait through Permutation Entropy.

PMID: 33265160
Journal: Entropy
Year: 2018
Reference: Entropy (Basel). 2018 Jan 19;20(1). pii: e20010077. doi: 10.3390/e20010077.
Impact factor:
Publication type: Paper in international publication
Authors: Gomez-Andres, David; Lopez-Lopez, Javier; Martin-Gonzalo, Juan Andres; Pascual-Pascual, Samuel Ignacio; Pulido-Valdeolivas, Irene; Rausell, Estrella; Zanin, Massimiliano et al.
DOI: 10.3390/e20010077

Clinical Assessment of Dysarthria in Children with Cerebellar Syndrome Associated with PMM2-CDG.

PMID: 30304743
Journal: NEUROPEDIATRICS
Year: 2018
Reference: Neuropediatrics. 2018 Dec;49(6):408-413. doi: 10.1055/s-0038-1673332. Epub 2018 Oct 10.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Aisa, Eduardo; Artuch, Rafael; Bolasell, Merce; Cancho-Candela, Ramon; Carrasco-Marina, M Llanos; Carratala, Francisco; Couce, Maria L; Cuadras, Daniel; Felipe, Ana et al.
DOI: 10.1055/s-0038-1673332

Hyaline fibromatosis syndrome: Clinical update and phenotype-genotype correlations.

PMID: 30176098
Journal: HUMAN MUTATION
Year: 2018
Reference: Hum Mutat. 2018 Dec;39(12):1752-1763. doi: 10.1002/humu.23638. Epub 2018 Sep 17.
Impact factor:
Publication type: Review in national publication
Authors: Alsina, Laia; Casas-Alba, Didac; Castejon, Esperanza; Garcia-Alix, Alfredo; Martinez-Monseny, Antonio; Navarro-Vilarrubi, Sergi; Palau, Francesc; Perez-Duenas, Belen; Pino-Ramirez, Rosa M; Serrano, Mercedes et al.
DOI: 10.1002/humu.23638

Muscle imaging in laminopathies: synthesis study identifies meaningful muscles for follow-up.

PMID: 30066418
Journal: MUSCLE & NERVE
Year: 2018
Reference: Muscle Nerve. 2018 Dec;58(6):812-817. doi: 10.1002/mus.26312. Epub 2018 Nov 18.
Impact factor:
Publication type: Paper in international publication
Authors: Alejaldre, Aida; Alonso-Jimenez, Alicia; Bonne, Gisele; Carlier, Robert Y; Dabaj, Ivana; Diaz-Manera, Jordi; Gomez Garcia de la Banda, Marta; Gomez-Andres, David; Gonzalez-Mera, Laura; Lopez de Munain, Adolfo et al.
DOI: 10.1002/mus.26312