Motta M - Search Results

1

Clinical variability of neurofibromatosis 1: A modifying role of cooccurring PTPN11 variants and atypical brain MRI findings.

D'Amico A, Rosano C, Pannone L, Pinna V, Assunto A, Motta M, Ugga L, Daniele P, Mandile R, Mariniello L, Siano MA, Santoro C, Piluso G, Martinelli S, Strisciuglio P, De Luca A, Tartaglia M, Melis D. D'Amico A, et al. Among authors: motta m. Clin Genet. 2021 Nov;100(5):563-572. doi: 10.1111/cge.14040. Epub 2021 Aug 17. Clin Genet. 2021. PMID: 34346503

2

Efficient one-step chromatographic purification and functional characterization of recombinant human Saposin C.

Motta M, Tatti M, Martinelli S, Camerini S, Scarpa S, Crescenzi M, Tartaglia M, Salvioli R. Motta M, et al. Protein Expr Purif. 2011 Aug;78(2):209-15. doi: 10.1016/j.pep.2011.03.015. Epub 2011 Apr 2. Protein Expr Purif. 2011. PMID: 21463688

3

Gaucher disease due to saposin C deficiency is an inherited lysosomal disease caused by rapidly degraded mutant proteins.

Motta M, Camerini S, Tatti M, Casella M, Torreri P, Crescenzi M, Tartaglia M, Salvioli R. Motta M, et al. Hum Mol Genet. 2014 Nov 1;23(21):5814-26. doi: 10.1093/hmg/ddu299. Epub 2014 Jun 12. Hum Mol Genet. 2014. PMID: 24925315

4

BCM-95 and (2-hydroxypropyl)-β-cyclodextrin reverse autophagy dysfunction and deplete stored lipids in Sap C-deficient fibroblasts.

Tatti M, Motta M, Scarpa S, Di Bartolomeo S, Cianfanelli V, Tartaglia M, Salvioli R. Tatti M, et al. Among authors: motta m. Hum Mol Genet. 2015 Aug 1;24(15):4198-211. doi: 10.1093/hmg/ddv153. Epub 2015 Apr 29. Hum Mol Genet. 2015. PMID: 25926625

5

Clinical, biochemical and molecular characterization of prosaposin deficiency.

Motta M, Tatti M, Furlan F, Celato A, Di Fruscio G, Polo G, Manara R, Nigro V, Tartaglia M, Burlina A, Salvioli R. Motta M, et al. Clin Genet. 2016 Sep;90(3):220-9. doi: 10.1111/cge.12753. Epub 2016 Feb 19. Clin Genet. 2016. PMID: 26831127

6

SHOC2 subcellular shuttling requires the KEKE motif-rich region and N-terminal leucine-rich repeat domain and impacts on ERK signalling.

Motta M, Chillemi G, Fodale V, Cecchetti S, Coppola S, Stipo S, Cordeddu V, Macioce P, Gelb BD, Tartaglia M. Motta M, et al. Hum Mol Genet. 2016 Sep 1;25(17):3824-3835. doi: 10.1093/hmg/ddw229. Epub 2016 Jul 27. Hum Mol Genet. 2016. PMID: 27466182

7

Aberrant HRAS transcript processing underlies a distinctive phenotype within the RASopathy clinical spectrum.

Pantaleoni F, Lev D, Cirstea IC, Motta M, Lepri FR, Bottero L, Cecchetti S, Linger I, Paolacci S, Flex E, Novelli A, Carè A, Ahmadian MR, Stellacci E, Tartaglia M. Pantaleoni F, et al. Among authors: motta m. Hum Mutat. 2017 Jul;38(7):798-804. doi: 10.1002/humu.23224. Epub 2017 May 3. Hum Mutat. 2017. PMID: 28390077

8

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M. Motta M, et al. Hum Mol Genet. 2019 Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412. Hum Mol Genet. 2019. PMID: 30481304

9

Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.

Zanni G, De Magistris P, Nardella M, Bellacchio E, Barresi S, Sferra A, Ciolfi A, Motta M, Lue H, Moreno-Andres D, Tartaglia M, Bertini E, Antonin W. Zanni G, et al. Among authors: motta m. Cerebellum. 2019 Jun;18(3):422-432. doi: 10.1007/s12311-019-1010-5. Cerebellum. 2019. PMID: 30741391

10

Clinical and functional characterization of a novel RASopathy-causing SHOC2 mutation associated with prenatal-onset hypertrophic cardiomyopathy.

Motta M, Giancotti A, Mastromoro G, Chandramouli B, Pinna V, Pantaleoni F, Di Giosaffatte N, Petrini S, Mazza T, D'Ambrosio V, Versacci P, Ventriglia F, Chillemi G, Pizzuti A, Tartaglia M, De Luca A. Motta M, et al. Hum Mutat. 2019 Aug;40(8):1046-1056. doi: 10.1002/humu.23767. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31059601

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