Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2013 1
2014 4
2015 6
2016 9
2017 5
2018 7
2019 6
2020 6
2021 5
2022 4
2023 7
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

60 results

Results by year

Filters applied: . Clear all
Page 1
Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.
Tatton-Brown K, Loveday C, Yost S, Clarke M, Ramsay E, Zachariou A, Elliott A, Wylie H, Ardissone A, Rittinger O, Stewart F, Temple IK, Cole T; Childhood Overgrowth Collaboration; Mahamdallie S, Seal S, Ruark E, Rahman N. Tatton-Brown K, et al. Among authors: ardissone a. Am J Hum Genet. 2017 May 4;100(5):725-736. doi: 10.1016/j.ajhg.2017.03.010. Am J Hum Genet. 2017. PMID: 28475857 Free PMC article.
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Racca F, Sansone VA, Ricci F, Filosto M, Pedroni S, Mazzone E, Longhitano Y, Zanza C, Ardissone A, Adorisio R, Berardinelli A, Bondone C, Briani C, Cairello F, Carraro E, Comi GP, Crescimanno G, D'Amico A, Deiaco F, Fabiano A, Franceschi F, Mancuso M, Massè A, Messina S, Mongini T, Moroni I, Moscatelli A, Musumeci O, Navalesi P, Nigro G, Origo C, Panicucci C, Pane M, Pavone M, Pedemonte M, Pegoraro E, Piastra M, Pini A, Politano L, Previtali S, Rao F, Ricci G, Toscano A, Wolfler A, Zoccola K, Sancricca C, Nigro V, Trabacca A, Vianello A, Bruno C. Racca F, et al. Among authors: ardissone a. Acta Myol. 2022 Dec 31;41(4):135-177. doi: 10.36185/2532-1900-081. eCollection 2022. Acta Myol. 2022. PMID: 36793651 Free PMC article.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: ardissone a. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
Invernizzi F, Izzo R, Colangelo I, Legati A, Zanetti N, Garavaglia B, Lamantea E, Peverelli L, Ardissone A, Moroni I, Maggi L, Bonanno S, Fiori L, Velardo D, Magri F, Comi GP, Ronchi D, Ghezzi D, Lamperti C. Invernizzi F, et al. Among authors: ardissone a. Genes (Basel). 2023 Jul 2;14(7):1393. doi: 10.3390/genes14071393. Genes (Basel). 2023. PMID: 37510298 Free PMC article.
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
Ticci C, Sicca F, Ardissone A, Bertini E, Carelli V, Diodato D, Di Vito L, Filosto M, La Morgia C, Lamperti C, Martinelli D, Moroni I, Musumeci O, Orsucci D, Pancheri E, Peverelli L, Primiano G, Rubegni A, Servidei S, Siciliano G, Simoncini C, Tonin P, Toscano A, Mancuso M, Santorelli FM. Ticci C, et al. Among authors: ardissone a. Neurogenetics. 2020 Apr;21(2):87-96. doi: 10.1007/s10048-019-00601-5. Epub 2020 Jan 3. Neurogenetics. 2020. PMID: 31900734
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
Ardissone A, Tonduti D, Legati A, Lamantea E, Barone R, Dorboz I, Boespflug-Tanguy O, Nebbia G, Maggioni M, Garavaglia B, Moroni I, Farina L, Pichiecchio A, Orcesi S, Chiapparini L, Ghezzi D. Ardissone A, et al. Orphanet J Rare Dis. 2018 Apr 4;13(1):45. doi: 10.1186/s13023-018-0788-4. Orphanet J Rare Dis. 2018. PMID: 29615062 Free PMC article. Review.
60 results