COLOMBRITA, CLAUDIA

COLOMBRITA, CLAUDIA  

Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti  

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Risultati 1 - 20 di 36 (tempo di esecuzione: 0.001 secondi).
Titolo Data di pubblicazione Autori Tipo File Abstract
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype 1-gen-2017 F. VerdeC. CastronovoN. TicozziC. ColombritaV. Silani + Article (author) -
ALS Genes: mutational analysis in a large cohort of Italian patients 1-gen-2009 N. TicozziA. RattiC. ColombritaV. Silani + Book Part (author) -
Angiogenin gene mutations in Italian patients with familial and sporadic ALS 1-gen-2007 N. TicozziC. ColombritaA. RattiV. Silani + Article (author) -
Angiogenin: a novel candidate gene for ALS pathogenesis in the Italian Population 1-gen-2007 C. ColombritaN. TicozziA. RattiV. Silani + Article (author) -
Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis 30-ago-2021 Ticozzi N.Silani V.Ticozzi N.Colombrita C.Comi G. P.Del Bo R.Lauria G.Corti S.Ratti A.Silani V. + Article (author) -
C9orf72 repeat expansions are restricted to the ALS-FTD spectrum 1-gen-2014 N. TicozziC. TilocaD. CaliniALTIERI, ALESSANDRAC. ColombritaA. RattiV. Silani + Article (author) -
Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases 3-lug-2018 Tiloca, CinziaColombrita, ClaudiaTicozzi, NicolaRatti, AntoniaSilani, Vincenzo + Article (author) -
Concurrence of SOD1 and ANG mutations in an Italian ALS family 1-gen-2009 C. ColombritaN. TicozziA. RattiV. Silani + Article (author) -
Concurrence of SOD1 and ANG Mutations in Italian ALS Family 1-gen-2009 C. ColombritaN. TicozziA. RattiV. Silani + Book Part (author) -
Dendritic targeting of short and long 3' UTR BDNF mRNA is regulated by BDNF or NT-3 and distinct sets of RNA-binding proteins 29-ott-2015 A. RattiC. Colombrita + Article (author) -
ELAV proteins along evolution : back to the nucleus? 1-set-2013 C. ColombritaV. SilaniA. Ratti Article (author) -
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS 22-ott-2014 N. TicozziD. CaliniC. TilocaC. ColombritaG.P. ComiR. Del BoG. LauriaS. CortiA. RattiV. Silani + Article (author) -
From transcriptomic to protein level changes in TDP-43 and FUS loss-of-function cell models 1-dic-2015 C. ColombritaE. OnestoV. GuminaV. SilaniA. Ratti + Article (author) -
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts 1-mag-2016 E. OnestoC. ColombritaV. GuminaM.O. BorghiA. DorettiF. InvernizziV. SilaniA. Ratti + Article (author) -
Genetic and epigenetic disease modifiers in an Italian C9orf72 family expressing ALS, FTD or PD clinical phenotypes 1-gen-2021 Ratti A.Colombrita C.Silani V. + Article (author) -
Genetics of Familial Amyotrophic Lateral Sclerosis 1-gen-2011 N. TicozziC. TilocaC. MorelliC. ColombritaB. PolettiA. RattiV. Silani + Article (author) -
hnRNPA2/B1 and nELAV proteins bind to a specific U-rich element in CDK5R1 3'-UTR and oppositely regulate its expression 2-mag-2014 P. ZuccottiC. ColombritaS. MonciniA. BarbieriM. LunghiC. GelfiS. De PalmaA. NicolinA. RattiM. VenturinP. Riva Article (author) -
Identification and functional characterization of trans-acting factors involved in the post-transcriptional regulation of CDK5R1 1-gen-2012 P. ZuccottiA. BarbieriC. ColombritaS. De PalmaS. MonciniC. GelfiA. RattiM. VenturinP. Riva Article (author) -
Identification of Angiogenin gene mutations in a large cohort of Italian ALS patients 1-gen-2007 C. ColombritaN. TicozziA RattiV. Silani + Book Part (author) -
Identification of new ANG gene mutations in a large cohort of Italian patients with Amyotrophic Lateral Sclerosis 1-gen-2008 C. ColombritaN. TicozziA. RattiV. Silani + Article (author) -