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Late infantile metachromatic leukodystrophy due to novel pathogenic variants in the PSAP gene
Title Late infantile metachromatic leukodystrophy due to novel pathogenic variants in the PSAP gene Author Kolníková Miriam Co-authors Jungová Petra Škopková Martina SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV Foltan Tomáš Gašperíková Daniela SAVBIOMED ; SAVEXEND - Biomedicínske centrum SAV RID ORCID Mattošová Slávka Source document Journal of Molecular Neuroscience. Vol. 67, no. 4 (2019), p. 559-563 Language eng - English Document kind rozpis článkov z periodík (rbx) Citations MADAAN, Priyanka - JAUHARI, Prashant - CHAKRABARTY, Biswaroop - KUMAR, Atin - GULATI, Sheffali. Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis. In NEUROPEDIATRICS. ISSN 0174-304X, 2019, vol. 50, no. 5, pp. 318-321. ALDOSARI, K.H. - AL-GHAMDI, S. - ALKHATHLAN, K.M. - ALKHALIDI, H.M. Phenotypic and genotypic analysis of limb-Girdle muscular dystrophy type 2B. In NEUROSCIENCES. ISSN 1319-6138, JUL 2020, vol. 25, no. 3, p. 214-217. WU, S.F. - HOU, M. - ZHANG, Y. - SONG, J. - GUO, Y. - LIU, P.P. - LIU, Y.D. - YI, L.P. - PAN, X.Y. - WE, W. - CHEN, Z.B. Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene. In JOURNAL OF MOLECULAR NEUROSCIENCE. ISSN 0895-8696, FEB 2021, vol. 71, no. 2, p. 245-251. SHAIMARDANOVA, A.A. - CHULPANOVA, D.S. - SOLOVYEVA, V.V. - MULLAGULOVA, A.I. - KITAEVA, K.V. - ALLEGRUCCI, C. - RIZVANOV, A.A. Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches. In FRONTIERS IN MEDICINE. OCT 20 2020, vol. 7. ZHAO, H.D. - WU, M.L. - YI, X.H. - TANG, X.Q. - CHEN, P.B. - WANG, S.H. - SUN, X.Z. Functional Analysis of Haplotypes in Bovine PSAP Gene and Their Relationship with Beef Cattle Production Traits. In ANIMALS. ISSN 2076-2615, JAN 2021, vol. 11, no. 1. ZHAO, Y.W. - PAN, H.X. - ZENG, Q. - FANG, Z.H. - LIU, Z.H. - WANG, Y.G. - JIANG, L. - HE, R.C. - ZHOU, X. - ZHOU, Y.J. - XU, Q. - SUN, Q.Y. - LI, B. - ZHAO, G.H. - YANG, Y. - HU, Y.C. - CHEN, Y.S. - DU, J. - LEI, L.F. - ZHANG, H.N. - WANG, C.Y. - YAN, X.X. - SHEN, L. - JIANG, H. - LI, J.C. - TANG, B.S. - TAN, J.Q. - GUO, J.F. PSAP variants in Parkinson's disease: a large cohort study in Chinese mainland population. In BRAIN. ISSN 0006-8950, MAR 2021, vol. 144, 3. RODRIGUES, K.F. - YONG, W.T.L. - BHUIYAN, M.S.A. - SIDDIQUEE, S. - SHAH, M.D. - MARAN, B.A.V. Current Understanding on the Genetic Basis of Key Metabolic Disorders: A Review. In BIOLOGY-BASEL. SEP 2022, vol. 11, no. 9. Dostupné na: https://doi.org/10.3390/biology11091308. Category ADCA - Scientific papers in foreign journals registered in Current Contents Connect with IF (impacted) Category of document (from 2022) V3 - Vedecký výstup publikačnej činnosti z časopisu Type of document článok Year 2019 Registered in WOS Registered in SCOPUS Registered in CCC DOI 10.1007/s12031-019-1259-7 
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rok CC IF IF Q (best) JCR Av Jour IF Perc SJR SJR Q (best) CiteScore A rok vydania rok metriky IF IF Q (best) SJR SJR Q (best) 2019 2018 2.577 Q3 0.933 Q1
Number of the records: 1