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

302 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
Superior Cerebellar Atrophy: An Imaging Clue to Diagnose ITPR1-Related Disorders.
Romaniello R, Pasca L, Panzeri E, D'Abrusco F, Travaglini L, Serpieri V, Signorini S, Aiello C, Bertini E, Bassi MT, Valente EM, Zanni G, Borgatti R, Arrigoni F. Romaniello R, et al. Among authors: borgatti r. Int J Mol Sci. 2022 Jun 16;23(12):6723. doi: 10.3390/ijms23126723. Int J Mol Sci. 2022. PMID: 35743164 Free PMC article.
Functional analysis of novel KCNQ2 and KCNQ3 gene variants found in a large pedigree with benign familial neonatal convulsions (BFNC).
Bassi MT, Balottin U, Panzeri C, Piccinelli P, Castaldo P, Barrese V, Soldovieri MV, Miceli F, Colombo M, Bresolin N, Borgatti R, Taglialatela M. Bassi MT, et al. Among authors: borgatti r. Neurogenetics. 2005 Dec;6(4):185-93. doi: 10.1007/s10048-005-0012-2. Epub 2005 Oct 19. Neurogenetics. 2005. PMID: 16235065 Free article.
Agenesis of the corpus callosum: clinical and genetic study in 63 young patients.
Bedeschi MF, Bonaglia MC, Grasso R, Pellegri A, Garghentino RR, Battaglia MA, Panarisi AM, Di Rocco M, Balottin U, Bresolin N, Bassi MT, Borgatti R. Bedeschi MF, et al. Among authors: borgatti r. Pediatr Neurol. 2006 Mar;34(3):186-93. doi: 10.1016/j.pediatrneurol.2005.08.008. Pediatr Neurol. 2006. PMID: 16504787
Relationship between migraine and epilepsy in pediatric age.
Piccinelli P, Borgatti R, Nicoli F, Calcagno P, Bassi MT, Quadrelli M, Rossi G, Lanzi G, Balottin U. Piccinelli P, et al. Among authors: borgatti r. Headache. 2006 Mar;46(3):413-21. doi: 10.1111/j.1526-4610.2006.00373.x. Headache. 2006. PMID: 16618257
Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified.
Zucca C, Redaelli F, Epifanio R, Zanotta N, Romeo A, Lodi M, Veggiotti P, Airoldi G, Panzeri C, Romaniello R, De Polo G, Bonanni P, Cardinali S, Baschirotto C, Martorell L, Borgatti R, Bresolin N, Bassi MT. Zucca C, et al. Among authors: borgatti r. Arch Neurol. 2008 Apr;65(4):489-94. doi: 10.1001/archneur.65.4.489. Arch Neurol. 2008. PMID: 18413471 Free article.
Expanding CEP290 mutational spectrum in ciliopathies.
Travaglini L, Brancati F, Attie-Bitach T, Audollent S, Bertini E, Kaplan J, Perrault I, Iannicelli M, Mancuso B, Rigoli L, Rozet JM, Swistun D, Tolentino J, Dallapiccola B, Gleeson JG, Valente EM; International JSRD Study Group; Zankl A, Leventer R, Grattan-Smith P, Janecke A, D'Hooghe M, Sznajer Y, Van Coster R, Demerleir L, Dias K, Moco C, Moreira A, Kim CA, Maegawa G, Petkovic D, Abdel-Salam GM, Abdel-Aleem A, Zaki MS, Marti I, Quijano-Roy S, Sigaudy S, de Lonlay P, Romano S, Touraine R, Koenig M, Lagier-Tourenne C, Messer J, Collignon P, Wolf N, Philippi H, Kitsiou Tzeli S, Halldorsson S, Johannsdottir J, Ludvigsson P, Phadke SR, Udani V, Stuart B, Magee A, Lev D, Michelson M, Ben-Zeev B, Fischetto R, Benedicenti F, Stanzial F, Borgatti R, Accorsi P, Battaglia S, Fazzi E, Giordano L, Pinelli L, Boccone L, Bigoni S, Ferlini A, Donati MA, Caridi G, Divizia MT, Faravelli F, Ghiggeri G, Pessagno A, Briguglio M, Briuglia S, Salpietro CD, Tortorella G, Adami A, Castorina P, Lalatta F, Marra G, Riva D, Scelsa B, Spaccini L, Uziel G, Del Giudice E, Laverda AM, Ludwig K, Permunian A, Suppiej A, Signorini S, Uggetti C, Battini R, Di Giacomo M, Cilio MR, Di Sabato ML, Leuzzi V, Pa… See abstract for full author list ➔ Travaglini L, et al. Among authors: borgatti r. Am J Med Genet A. 2009 Oct;149A(10):2173-80. doi: 10.1002/ajmg.a.33025. Am J Med Genet A. 2009. PMID: 19764032 Free PMC article.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
302 results