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

Text availability

Article attribute

Article type

Publication date

Search Results

359 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.
Engel C, Valence S, Delplancq G, Maroofian R, Accogli A, Agolini E, Alkuraya FS, Baglioni V, Bagnasco I, Becmeur-Lefebvre M, Bertini E, Borggraefe I, Brischoux-Boucher E, Bruel AL, Brusco A, Bubshait DK, Cabrol C, Cilio MR, Cornet MC, Coubes C, Danhaive O, Delague V, Denommé-Pichon AS, Di Giacomo MC, Doco-Fenzy M, Engels H, Cremer K, Gérard M, Gleeson JG, Heron D, Goffeney J, Guimier A, Harms FL, Houlden H, Iacomino M, Kaiyrzhanov R, Kamien B, Karimiani EG, Kraus D, Kuentz P, Kutsche K, Lederer D, Massingham L, Mignot C, Morris-Rosendahl D, Nagarajan L, Odent S, Ormières C, Partlow JN, Pasquier L, Penney L, Philippe C, Piccolo G, Poulton C, Putoux A, Rio M, Rougeot C, Salpietro V, Scheffer I, Schneider A, Srivastava S, Straussberg R, Striano P, Valente EM, Venot P, Villard L, Vitobello A, Wagner J, Wagner M, Zaki MS, Zara F, Lesca G, Yassaee VR, Miryounesi M, Hashemi-Gorji F, Beiraghi M, Ashrafzadeh F, Galehdari H, Walsh C, Novelli A, Tacke M, Sadykova D, Maidyrov Y, Koneev K, Shashkin C, Capra V, Zamani M, Van Maldergem L, Burglen L, Piard J. Engel C, et al. Among authors: piccolo g. Eur J Hum Genet. 2023 Sep;31(9):1023-1031. doi: 10.1038/s41431-023-01410-z. Epub 2023 Jun 21. Eur J Hum Genet. 2023. PMID: 37344571 Free article.
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: A Single-Center Cohort Study.
Scala M, Schiavetti I, Madia F, Chelleri C, Piccolo G, Accogli A, Riva A, Salpietro V, Bocciardi R, Morcaldi G, Di Duca M, Caroli F, Verrico A, Milanaccio C, Viglizzo G, Traverso M, Baldassari S, Scudieri P, Iacomino M, Piatelli G, Minetti C, Striano P, Garrè ML, De Marco P, Diana MC, Capra V, Pavanello M, Zara F. Scala M, et al. Among authors: piccolo g. Cancers (Basel). 2021 Apr 14;13(8):1879. doi: 10.3390/cancers13081879. Cancers (Basel). 2021. PMID: 33919865 Free PMC article.
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
Piccolo G, d'Annunzio G, Amadori E, Riva A, Borgia P, Tortora D, Maghnie M, Minetti C, Gitto E, Iacomino M, Baldassari S, Fiorillo C, Zara F, Striano P, Salpietro V. Piccolo G, et al. Front Neurol. 2021 Jul 12;12:704747. doi: 10.3389/fneur.2021.704747. eCollection 2021. Front Neurol. 2021. PMID: 34322088 Free PMC article.
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.
Casto C, Dipasquale V, Ceravolo I, Gambadauro A, Aliberto E, Galletta K, Granata F, Ceravolo G, Falzia E, Riva A, Piccolo G, Cutrupi MC, Striano P, Accogli A, Zara F, Di Rosa G, Gitto E, Calì E, Efthymiou S, Salpietro V, Houlden H, Chimenz R. Casto C, et al. Among authors: piccolo g. Brain Sci. 2021 Aug 29;11(9):1150. doi: 10.3390/brainsci11091150. Brain Sci. 2021. PMID: 34573171 Free PMC article.
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.
Riva A, Golda A, Balagura G, Amadori E, Vari MS, Piccolo G, Iacomino M, Lattanzi S, Salpietro V, Minetti C, Striano P. Riva A, et al. Among authors: piccolo g. Front Neurol. 2021 Dec 7;12:753753. doi: 10.3389/fneur.2021.753753. eCollection 2021. Front Neurol. 2021. PMID: 34950099 Free PMC article. Review.
Diagnostic Approach to Macrocephaly in Children.
Accogli A, Geraldo AF, Piccolo G, Riva A, Scala M, Balagura G, Salpietro V, Madia F, Maghnie M, Zara F, Striano P, Tortora D, Severino M, Capra V. Accogli A, et al. Among authors: piccolo g. Front Pediatr. 2022 Jan 14;9:794069. doi: 10.3389/fped.2021.794069. eCollection 2021. Front Pediatr. 2022. PMID: 35096710 Free PMC article. Review.
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar Development.
Accogli A, Lu S, Musante I, Scudieri P, Rosenfeld JA, Severino M, Baldassari S, Iacomino M, Riva A, Balagura G, Piccolo G, Minetti C, Roberto D, Xia F, Razak R, Lawrence E, Hussein M, Chang EY, Holick M, Calì E, Aliberto E, De-Sarro R, Gambardella A, Network UD, Group SS, Emrick L, McCaffery PJA, Clagett-Dame M, Marcogliese PC, Bellen HJ, Lalani SR, Zara F, Striano P, Salpietro V. Accogli A, et al. Among authors: piccolo g. Cerebellum. 2023 Apr;22(2):206-222. doi: 10.1007/s12311-022-01379-3. Epub 2022 Feb 26. Cerebellum. 2023. PMID: 35218524 Free PMC article.
Hydranencephaly in CENPJ-related Seckel syndrome.
Cuccurullo C, Miele G, Piccolo G, Bilo L, Accogli A, D'Amico A, Fratta M, Guerrisi S, Iacomino M, Salpietro V, Ugga L, Striano P, Coppola A. Cuccurullo C, et al. Among authors: piccolo g. Eur J Med Genet. 2022 Dec;65(12):104659. doi: 10.1016/j.ejmg.2022.104659. Epub 2022 Nov 2. Eur J Med Genet. 2022. PMID: 36334884
359 results