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.
Publications
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
PMID: 34559299
Journal: JOURNAL OF NEUROLOGY
Year: 2022
Reference: J Neurol. 2022 May;269(5):2414-2429. doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24.
Impact factor:
Publication type: Paper in international publication
Authors: Amthor, Helge; Benezit, Audrey; Beroud, Christophe; Carlier, Robert Y; Castiglioni, Claudia; Cavassa, Eliana; Costa Comellas, Laura; Dabaj, Ivana; Fattori, Fabiana; Gomez Garcia de la Banda, Marta et al.
DOI: 10.1007/s00415-021-10806-0
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).
PMID: 35241415
Journal: NEUROLOGIA
Year: 2022
Reference: Neurologia (Engl Ed). 2022 Apr;37(3):216-228. doi: 10.1016/j.nrleng.2021.07.002. Epub 2022 Feb 28.
Impact factor:
Publication type: Paper in national publication
Authors: Cabrera-Serrano, M; Calvo Medina, R; Cattinari, M G; Espinosa Garcia, S; Fernandez-Ramos, J A; Garcia Campos, O; Gomez-Andres, D; Grimalt Calatayud, M A; Gutierrez Martinez, A J; Ibanez Albert, E et al.
DOI: 10.1016/j.nrleng.2021.07.002
Eye Movement Alterations in Post-COVID-19 Condition: A Proof-of-Concept Study.
PMID: 35214383
Journal: SENSORS
Year: 2022
Reference: Sensors (Basel). 2022 Feb 14;22(4). pii: s22041481. doi: 10.3390/s22041481.
Impact factor:
Publication type: Paper in international publication
Authors: Benito-Leon, Julian; Costa, Mariana Campos; Garcia Cena, Cecilia; Gomez-Andres, David; Saltaren Pazmino, Roque; Santos, Cristina Peixoto et al.
DOI: 10.3390/s22041481
'Leukodystrophy-Like' Phenotype in anti-MOG antibody-associated disorders.
PMID: 35030636
Journal: NEUROPEDIATRICS
Year: 2022
Reference: Neuropediatrics. 2022 Apr;53(2):147-148. doi: 10.1055/a-1740-9649. Epub 2022 Jan 14.
Impact factor:
Publication type: Paper in international publication
Authors: Armangue, Thais; Felipe-Rucian, Ana; Gomez-Andres, David; Ortiz de Zarate Caballero, Zurine; Sanchez-Montanez, Angel et al.
DOI: 10.1055/a-1740-9649
Expanding the beta-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.
PMID: 33801522
Journal: INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
Year: 2021
Reference: Int J Mol Sci. 2021 Mar 2;22(5). pii: ijms22052505. doi: 10.3390/ijms22052505.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, Sergio; Andres-Borderia, Amparo; Blumkin, Luba; Espinos, Carmen; Fernandez-Murga, Leonor; Gil-Ortiz, Fernando; Gorria-Redondo, Nerea; Llano, Katia; Lupo, Vincenzo; Martinez-Rubio, Dolores et al.
DOI: 10.3390/ijms22052505
Clinical phenotypes of infantile onset CACNA1A-related disorder.
PMID: 33349592
Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Year: 2021
Reference: Eur J Paediatr Neurol. 2021 Jan;30:144-154. doi: 10.1016/j.ejpn.2020.10.004. Epub 2020 Oct 20.
Impact factor:
Publication type: Paper in international publication
Authors: Ben Zeev, Bruria; Berkowitz, Oren; Bertini, Enrico; Blumkin, Lubov; Bosco, Luca; Cayron, Lital Bachar; Duenas, Belen Perez; Gur-Hartman, Tamar; Hassin, Sharon; Heimer, Gali et al.
DOI: 10.1016/j.ejpn.2020.10.004
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.
PMID: 32677093
Journal: JOURNAL OF INHERITED METABOLIC DISEASE
Year: 2021
Reference: J Inherit Metab Dis. 2021 Mar;44(2):401-414. doi: 10.1002/jimd.12288. Epub 2020 Aug 16.
Impact factor:
Publication type: Paper in international publication
Authors: Aguilera-Albesa, S; Aldamiz-Echevarria, L; Arranz, A; Artuch, R; Baide-Mairena, H; Carrozzo, R; Correa-Vela, M; Del Toro, M; Delgado, I; Dionisi-Vici, C et al.
DOI: 10.1002/jimd.12288
Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome.
PMID: 33752678
Journal: Orphanet Journal of Rare Diseases
Year: 2021
Reference: Orphanet J Rare Dis. 2021 Mar 22;16(1):145. doi: 10.1186/s13023-021-01777-6.
Impact factor:
Publication type: Letter or abstract
Authors: Atalaia, Antonio; Beltran, Sergi; Bonne, Gisele; Bros-Facer, Virginie; Carmody, Leigh; Chinnery, Patrick; Corvo, Alberto; Desaphy, Jean-Francois; Evangelista, Teresinha; Fontaine, Bertrand et al.
DOI: 10.1186/s13023-021-01777-6
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome.
PMID: 32787960
Journal: Orphanet Journal of Rare Diseases
Year: 2020
Reference: Orphanet J Rare Dis. 2020 Aug 12;15(1):206. doi: 10.1186/s13023-020-01493-7.
Impact factor:
Publication type: Paper in international publication
Authors: Atalaia, Antonio; Beltran, Sergi; Bonne, Gisele; Bros-Facer, Virginie; Carmody, Leigh; Chinnery, Patrick; Corvo, Alberto; Desaphy, Jean-Francois; Evangelista, Teresinha; Fontaine, Bertrand et al.
DOI: 10.1186/s13023-020-01493-7
Retinal and brain damage during multiple sclerosis course: inflammatory activity is a key factor in the first 5 years.
PMID: 32770013
Journal: Scientific Reports
Year: 2020
Reference: Sci Rep. 2020 Aug 7;10(1):13333. doi: 10.1038/s41598-020-70255-z.
Impact factor:
Publication type: Paper in international publication
Authors: Alba-Arbalat, Salut; Andorra, Magi; Blanco, Yolanda; Camos-Carreras, Anna; Gomez-Andres, David; Lampert, Erika J; Llufriu, Sara; Martinez-Heras, Eloy; Martinez-Lapiscina, Elena H; Nakamura, Kunio et al.
DOI: 10.1038/s41598-020-70255-z
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
PMID: 32767480
Journal: Annals of Clinical and Translational Neurology
Year: 2020
Reference: Ann Clin Transl Neurol. 2020 Aug;7(8):1436-1442. doi: 10.1002/acn3.51095. Epub 2020 Aug 6.
Impact factor:
Publication type: Paper in international publication
Authors: Correa-Vela, Marta; Darling, Alejandra; Espinos, Carmen; Fernandez-Rodriguez, Sandra; Hernandez-Vara, Jorge; Jenkins, Alison; Lupo, Vincenzo; Macaya, Alfons; Marce-Grau, Anna; Martinez-Vicente, Marta et al.
DOI: 10.1002/acn3.51095
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.
PMID: 32472658
Journal: MOVEMENT DISORDERS
Year: 2020
Reference: Mov Disord. 2020 Aug;35(8):1357-1368. doi: 10.1002/mds.28063. Epub 2020 May 30.
Impact factor:
Publication type: Paper in international publication
Authors: Abela, Lucia; Biassoni, Lorenzo; Cain, John; Cortes-Saladelafont, Elisenda; Coutts, Helen; Csanyi, Barbara; De Goede, Christian; Garcia-Cazorla, Angels; Gorman, Kathleen M; Grozeva, Detelina et al.
DOI: 10.1002/mds.28063
The genetic etiology in cerebral palsy mimics: The results from a Greek tertiary care center.
PMID: 30799092
Journal: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
Year: 2019
Reference: Eur J Paediatr Neurol. 2019 May;23(3):427-437. doi: 10.1016/j.ejpn.2019.02.001. Epub 2019 Feb 14.
Impact factor:
Publication type: Paper in international publication
Authors: Amstrong, Judith; Anagnostopoulou, Katerina; Apostolakopoulou, Loukia; Artuch, Rafael; Bilanakis, Manolis; Dalivigka, Zoi; Fryssira, Helen; Kekou, Kiriaki; Kokkinis, Xaralabos; Kokkinou, Eleftheria et al.
DOI: 10.1016/j.ejpn.2019.02.001
Dihydropyrimidine Dehydrogenase Deficiency: Homozygosity for an Extremely Rare Variant in DPYD due to Uniparental Isodisomy of Chromosome 1.
PMID: 30349988
Journal: JIMD reports
Year: 2019
Reference: JIMD Rep. 2019;45:65-69. doi: 10.1007/8904_2018_138. Epub 2018 Oct 23.
Impact factor:
Publication type: Paper in international publication
Authors: Alders, Marielle; Artuch, Rafael; Bhuiyan, Zahurul A; Hennekam, Raoul C M; Meijer, Judith; Meinsma, Rutger; Perez-Duenas, Belen; van Kuilenburg, Andre B P et al.
DOI: 10.1007/8904_2018_138
Childhood onset progressive myoclonic dystonia due to a de novo KCTD17 splicing mutation.
PMID: 30642807
Journal: PARKINSONISM & RELATED DISORDERS
Year: 2019
Reference: Parkinsonism Relat Disord. 2019 Apr;61:7-9. doi: 10.1016/j.parkreldis.2019.01.004. Epub 2019 Jan 8.
Impact factor:
Publication type: Letter or abstract
Authors: Baide, Heidy; Correa, Marta; Ferrer-Aparicio, Silvia; Macaya, Alfons; Marce-Grau, Anna; Munoz-Ruiz, Teresa; Perez-Duenas, Belen; Vanegas, Maria Isabel et al.
DOI: 10.1016/j.parkreldis.2019.01.004
Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.
PMID: 30642748
Journal: MOLECULAR GENETICS AND METABOLISM
Year: 2019
Reference: Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5.
Impact factor:
Publication type: Paper in international publication
Authors: Alonso-Luengo, Olga; Artuch, Rafael; Baide-Mairena, Heidy; Bayona-Bafaluy, Maria Pilar; Correa, Marta; Del Toro, Mireia; Emperador, Sonia; Garrido-Perez, Nuria; Gaudo, Paula; Grau, Anna Marce et al.
DOI: 10.1016/j.ymgme.2019.01.001