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 Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

54 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
A Large Family with p.Arg554His Mutation in ABCD1: Clinical Features and Genotype/Phenotype Correlation in Female Carriers.
Campopiano R, Femiano C, Chiaravalloti MA, Ferese R, Centonze D, Buttari F, Zampatti S, Fanelli M, Amatori S, D'Alessio C, Giardina E, Fornai F, Biagioni F, Storto M, Gambardella S. Campopiano R, et al. Among authors: ferese r. Genes (Basel). 2021 May 19;12(5):775. doi: 10.3390/genes12050775. Genes (Basel). 2021. PMID: 34069712 Free PMC article. Clinical Trial.
The Monoamine Brainstem Reticular Formation as a Paradigm for Re-Defining Various Phenotypes of Parkinson's Disease Owing Genetic and Anatomical Specificity.
Gambardella S, Ferese R, Biagioni F, Busceti CL, Campopiano R, Griguoli AMP, Limanaqi F, Novelli G, Storto M, Fornai F. Gambardella S, et al. Among authors: ferese r. Front Cell Neurosci. 2017 Apr 18;11:102. doi: 10.3389/fncel.2017.00102. eCollection 2017. Front Cell Neurosci. 2017. PMID: 28458632 Free PMC article. Review.
Next Generation Sequencing and ALS: known genes, different phenotyphes.
Campopiano R, Ryskalin L, Giardina E, Zampatti S, Busceti CL, Biagioni F, Ferese R, Storto M, Gambardella S, Fornai F. Campopiano R, et al. Among authors: ferese r. Arch Ital Biol. 2017 Dec 1;155(4):110-117. doi: 10.12871/00039829201742. Arch Ital Biol. 2017. PMID: 29405028 Review.
Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
Ferese R, Albano V, Falconi M, Iacovelli F, Campopiano R, Scala S, Griguoli AM, Gaglione A, Giardina E, Zampatti S, Storto M, Fornai F, D'Alessio C, Novelli G, Gambardella S. Ferese R, et al. Arch Ital Biol. 2017 Dec 1;155(4):118-130. doi: 10.12871/000398292017410. Arch Ital Biol. 2017. PMID: 29405036 No abstract available.
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defect.
Ferese R, Bonetti M, Consoli F, Guida V, Sarkozy A, Lepri FR, Versacci P, Gambardella S, Calcagni G, Margiotti K, Piceci Sparascio F, Hozhabri H, Mazza T, Digilio MC, Dallapiccola B, Tartaglia M, Marino B, Hertog JD, De Luca A. Ferese R, et al. Hum Mutat. 2018 Oct;39(10):1428-1441. doi: 10.1002/humu.23593. Epub 2018 Jul 30. Hum Mutat. 2018. PMID: 30007050
54 results