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Neurogenètica i Medicina Molecular

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Publicacions

  • López-Marquez A, Morín M, Fernández-Peñalver S, Badosa-Gallego MC, Hernández-Delgado A, Natera-de Benito D, Ortez-Gonzalez CI, Nascimento-Osorio A, Grinberg-Vaisman DR, Balcells S, Roldan-Molina M, Moreno-Pelayo MÁ and Jimenez-Mallebrera C.

    CRISPR/Cas9-Mediated Allele-Specific Disruption of a Dominant COL6A1 Pathogenic Variant Improves Collagen VI Network in Patient Fibroblasts

    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES . 23(8): 4410. Nº de cites: 8

    [doi:10.3390/ijms23084410]

  • Rosas I, Morís G, Coto E, Blázquez-Estrada M, Suárez E, García-Fernández C, Martínez C, Herrera ID, Pérez-Oliveira S, Álvarez V, Menéndez-González M and Spain_PD consortium.

    Smoking is associated with age at disease onset in Parkinson's disease.

    PARKINSONISM & RELATED DISORDERS . 97: 79-83. Nº de cites: 2

    [doi:10.1016/j.parkreldis.2022.03.005]

  • Martinez-Esteve Melnikova A, Pijuan-Marquilles J, Aparicio J, Ramírez-Camacho A, Altisent A, Vilanova-Adell A, Arzimanoglou A, Armstrong-Moron J, Palau F, Hoenicka J and San Antonio-Arce MV.

    The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient

    EUROPEAN JOURNAL OF MEDICAL GENETICS . 65(3): 104442-104442. Nº de cites: 2

    [doi:10.1016/j.ejmg.2022.104442]

  • Vela-Desojo L, Urso D, Osuna-Lopez M and Hoenicka J.

    Non-Motor Symptoms in PLA2G6-Associated Dystonia-Parkinsonism: A Case Report and Literature Review

    Journal of Clinical Medicine . 11(6): .

    [doi:10.3390/jcm11061590]

  • Coronado-Parra T, Roldan-Molina M and Aboal M.

    Confocal Microscopy in Ecophysiological Studies of Algae: A Door to Understanding Autofluorescence in Red Algae

    Microscopy and Microanalysis . 28(1): 218-226. Nº de cites: 2

    [doi:10.1017/S1431927621013660]

  • Soliani L, Martorell-Sampol L, Yubero-Siles D, Verges C, Petit V and Ortigoza-Escobar JD.

    Paroxysmal Non-Kinesigenic Dyskinesia: Utility of the Quantification of GLUT1 in Red Blood Cells

    Movement Disorders Clinical Practice . 9(2): 252-254. Nº de cites: 1

    [doi:10.1002/mdc3.13391]

  • Pijuan-Marquilles J, Cantarero-Abad L, Natera-de Benito D, Altimir A, Altisent A, Díaz-Osorio Y, Carrera-García L, Exposito-Escudero JM, Ortez-Gonzalez CI, Nascimento-Osorio A, Hoenicka J and Palau F.

    Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases

    FRONTIERS IN NEUROSCIENCE . 16: 784880-784880. Nº de cites: 8

    [doi:10.3389/fnins.2022.784880]

  • Estévez-Arias B, Carrera-García L, Nascimento-Osorio A, Cantarero-Abad L, Hoenicka J and Palau F.

    Genetic approaches and pathogenic pathways in the clinical management of Charcot-Marie-Tooth disease

    Journal of Translational Genetics and Genomics . 6(3): 333-352. Nº de cites: 3

    [doi:10.20517/jtgg.2022.04]

  • Casas-Alba D, Hoenicka J, Vilanova-Adell A, Vega-Hana L, Pijuan-Marquilles J and Palau F.

    Diagnostic strategies in patients with undiagnosed and rare diseases

    Journal of Translational Genetics and Genomics . 6(3): 322-332. Nº de cites: 2

    [doi:10.20517/jtgg.2022.03]

  • von der Lippe C, Tveten K, Prescott TE, Holla ØL, Busk ØL, Burke KB, Sansbury FH, Baptista J, Fry AE, Lim D, Jolles S, Evans J, Osio D, Macmillan C, Bruno I, Faltera F, Climent S, Urreitzi R, Hoenicka J, Palau F, Cohen ASA, Engleman K, Zhou D, Amudhavalli SM, Jeanne M, Bonnet-Brilhault F, Lévy J, Drunat S, Derive N, Haug MG and Thorstensen WM.

    Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin

    AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 188(1): 272-282. Nº de cites: 4

    [doi:10.1002/ajmg.a.62492]