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Page 1
Allelic heterogeneity and abnormal vesicle recycling in PLAA-related neurodevelopmental disorders.
Iacomino M, Houerbi N, Fortuna S, Howe J, Li S, Scorrano G, Riva A, Cheng KW, Steiman M, Peltekova I, Yusuf A, Baldassari S, Tamburro S, Scudieri P, Musante I, Di Ludovico A, Guerrisi S, Balagura G, Corsello A, Efthymiou S, Murphy D, Uva P, Verrotti A, Fiorillo C, Delvecchio M, Accogli A, Elsabbagh M, Houlden H, Scherer SW, Striano P, Zara F, Chou TF, Salpietro V. Iacomino M, et al. Among authors: musante i. Front Mol Neurosci. 2024 Apr 8;17:1268013. doi: 10.3389/fnmol.2024.1268013. eCollection 2024. Front Mol Neurosci. 2024. PMID: 38650658 Free PMC article.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: musante i. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Genetic Downregulation of the Metabotropic Glutamate Receptor Type 5 Dampens the Reactive and Neurotoxic Phenotype of Adult ALS Astrocytes.
Torazza C, Provenzano F, Gallia E, Cerminara M, Balbi M, Bonifacino T, Tessitore S, Ravera S, Usai C, Musante I, Puliti A, Van Den Bosch L, Jafar-Nejad P, Rigo F, Milanese M, Bonanno G. Torazza C, et al. Among authors: musante i. Cells. 2023 Jul 27;12(15):1952. doi: 10.3390/cells12151952. Cells. 2023. PMID: 37566031 Free PMC article.
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
Baldassari S, Cervetto C, Amato S, Fruscione F, Balagura G, Pelassa S, Musante I, Iacomino M, Traverso M, Corradi A, Scudieri P, Maura G, Marcoli M, Zara F. Baldassari S, et al. Among authors: musante i. Int J Mol Sci. 2022 Sep 11;23(18):10545. doi: 10.3390/ijms231810545. Int J Mol Sci. 2022. PMID: 36142455 Free PMC article.
Genotype-phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders.
Borgia P, Baldassari S, Pedemonte N, Alkhunaizi E, D'Onofrio G, Tortora D, Calì E, Scudieri P, Balagura G, Musante I, Diana MC, Pedemonte M, Vari MS, Iacomino M, Riva A, Chimenz R, Mangano GD, Mohammadi MH, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Accogli A, Schiaffino MC, Maghnie M, Soler MA, Echiverri K, Abrams CK, Striano P, Fortuna S, Maroofian R, Houlden H, Zara F, Fiorillo C, Salpietro V. Borgia P, et al. Among authors: musante i. Orphanet J Rare Dis. 2022 Jul 19;17(1):286. doi: 10.1186/s13023-022-02415-5. Orphanet J Rare Dis. 2022. PMID: 35854306 Free PMC article.
A Phenotypic-Driven Approach for the Diagnosis of WOREE Syndrome.
Riva A, Nobile G, Giacomini T, Ognibene M, Scala M, Balagura G, Madia F, Accogli A, Romano F, Tortora D, Severino M, Scudieri P, Baldassari S, Musante I, Uva P, Salpietro V, Torella A, Nigro V, Capra V, Nobili L, Striano P, Mancardi MM, Zara F, Iacomino M. Riva A, et al. Among authors: musante i. Front Pediatr. 2022 Apr 29;10:847549. doi: 10.3389/fped.2022.847549. eCollection 2022. Front Pediatr. 2022. PMID: 35573960 Free PMC article.
31 results