Search Page
Save citations to file
Email citations
Send citations to clipboard
Add to Collections
Add to My Bibliography
Create a file for external citation management software
Your saved search
Your RSS Feed
Search Results
8 results
Filters applied: . Clear all
Results are displayed in a computed author sort order.
The Results By Year timeline is not available.
Page 1
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Mov Disord. 2024 Apr 30. doi: 10.1002/mds.29795. Online ahead of print.
Mov Disord. 2024.
PMID: 38685873
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease.
Siri B, Olivieri G, Lepri FR, Poms M, Goffredo BM, Commone A, Novelli A, Häberle J, Dionisi-Vici C.
Siri B, et al. Among authors: commone a.
Orphanet J Rare Dis. 2024 Jan 2;19(1):3. doi: 10.1186/s13023-023-02997-8.
Orphanet J Rare Dis. 2024.
PMID: 38167094
Free PMC article.
Item in Clipboard
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Cazzorla C, Loro C, Porcù E, Stornaiuolo M, Miglioranza P, Salviati L, Wanders RJA, Burlina A.
Gragnaniello V, et al. Among authors: commone a.
Orphanet J Rare Dis. 2023 Nov 16;18(1):358. doi: 10.1186/s13023-023-02940-x.
Orphanet J Rare Dis. 2023.
PMID: 37974207
Free PMC article.
Item in Clipboard
Variant in the allosteric domain of CPS1 protein associated with effectiveness of N-carbamoyl glutamate therapy in neonatal onset CPS1 deficiency.
Gragnaniello V, Gueraldi D, Puma A, Commone A, Loro C, Cazzorla C, Häberle J, Burlina AB.
Gragnaniello V, et al. Among authors: commone a.
J Pediatr Endocrinol Metab. 2023 Jul 10;36(9):873-878. doi: 10.1515/jpem-2023-0210. Print 2023 Sep 26.
J Pediatr Endocrinol Metab. 2023.
PMID: 37427576
Item in Clipboard
Newborn Screening for Fabry Disease: Current Status of Knowledge.
Gragnaniello V, Burlina AP, Commone A, Gueraldi D, Puma A, Porcù E, Stornaiuolo M, Cazzorla C, Burlina AB.
Gragnaniello V, et al. Among authors: commone a.
Int J Neonatal Screen. 2023 Jun 5;9(2):31. doi: 10.3390/ijns9020031.
Int J Neonatal Screen. 2023.
PMID: 37367212
Free PMC article.
Review.
Item in Clipboard
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.
Gragnaniello V, Rizzardi C, Commone A, Gueraldi D, Maines E, Salviati L, Di Salvo G, Burlina AB.
Gragnaniello V, et al. Among authors: commone a.
J Clin Med. 2023 Mar 19;12(6):2365. doi: 10.3390/jcm12062365.
J Clin Med. 2023.
PMID: 36983365
Free PMC article.
Item in Clipboard
Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort.
Tagliaferri F, Massese M, Russo L, Commone A, Gasperini S, Pretese R, Dionisi-Vici C, Maiorana A.
Tagliaferri F, et al. Among authors: commone a.
Orphanet J Rare Dis. 2022 Jul 19;17(1):285. doi: 10.1186/s13023-022-02431-5.
Orphanet J Rare Dis. 2022.
PMID: 35854365
Free PMC article.
Item in Clipboard
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene Alteration.
Nasca A, Nardecchia F, Commone A, Semeraro M, Legati A, Garavaglia B, Ghezzi D, Leuzzi V.
Nasca A, et al. Among authors: commone a.
Front Genet. 2018 Dec 7;9:625. doi: 10.3389/fgene.2018.00625. eCollection 2018.
Front Genet. 2018.
PMID: 30581454
Free PMC article.
Item in Clipboard
Cite
Cite