Accogli A - Search Results

1

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes.

Scala M, Nishikawa M, Ito H, Tabata H, Khan T, Accogli A, Davids L, Ruiz A, Chiurazzi P, Cericola G, Schulte B, Monaghan KG, Begtrup A, Torella A, Pinelli M, Denommé-Pichon AS, Vitobello A, Racine C, Mancardi MM, Kiss C, Guerin A, Wu W, Gabau Vila E, Mak BC, Martinez-Agosto JA, Gorin MB, Duz B, Bayram Y, Carvalho CMB, Vengoechea JE, Chitayat D, Tan TY, Callewaert B, Kruse B, Bird LM, Faivre L, Zollino M, Biskup S; Undiagnosed Diseases Network; Telethon Undiagnosed Diseases Program; Striano P, Nigro V, Severino M, Capra V, Costain G, Nagata KI. Scala M, et al. Among authors: accogli a. Brain. 2022 Sep 14;145(9):3308-3327. doi: 10.1093/brain/awac106. Brain. 2022. PMID: 35851598 Free PMC article.

2

Interstitial 9p24.3 deletion involving only DOCK8 and KANK1 genes in two patients with non-overlapping phenotypic traits.

Tassano E, Accogli A, Pavanello M, Bruno C, Capra V, Gimelli G, Cuoco C. Tassano E, et al. Among authors: accogli a. Eur J Med Genet. 2016 Jan;59(1):20-5. doi: 10.1016/j.ejmg.2015.11.011. Epub 2015 Dec 2. Eur J Med Genet. 2016. PMID: 26656975

3

Idiopathic Cervical Hematomyelia in an Infant: Spinal Cord Injury without Radiographic Abnormality Caused by a Trivial Trauma? Case Report and Review of the Literature.

Fiaschi P, Severino M, Ravegnani GM, Piatelli G, Consales A, Accogli A, Capra V, Cama A, Pavanello M. Fiaschi P, et al. Among authors: accogli a. World Neurosurg. 2016 Jun;90:38-44. doi: 10.1016/j.wneu.2016.01.094. Epub 2016 Feb 16. World Neurosurg. 2016. PMID: 26899465 Review.

4

Beyond spinal muscular atrophy with lower extremity dominance: cerebellar hypoplasia associated with a novel mutation in BICD2.

Fiorillo C, Moro F, Brisca G, Accogli A, Trucco F, Trovato R, Pedemonte M, Severino M, Catala M, Capra V, Santorelli FM, Bruno C, Rossi A, Minetti C. Fiorillo C, et al. Among authors: accogli a. Eur J Neurol. 2016 Apr;23(4):e19-21. doi: 10.1111/ene.12914. Eur J Neurol. 2016. PMID: 27000979 No abstract available.

5

Erratum to: Genetic Screening of Pediatric Cavernous Malformations.

Merello E, Pavanello M, Consales A, Mascelli S, Raso A, Accogli A, Cama A, Capra V, De Marco P. Merello E, et al. Among authors: accogli a. J Mol Neurosci. 2017 Jan;61(1):132. doi: 10.1007/s12031-016-0852-2. J Mol Neurosci. 2017. PMID: 27812772 No abstract available.

6

Rare deleterious variants in GRHL3 are associated with human spina bifida.

Lemay P, De Marco P, Emond A, Spiegelman D, Dionne-Laporte A, Laurent S, Merello E, Accogli A, Rouleau GA, Capra V, Kibar Z. Lemay P, et al. Among authors: accogli a. Hum Mutat. 2017 Jun;38(6):716-724. doi: 10.1002/humu.23214. Epub 2017 Mar 24. Hum Mutat. 2017. PMID: 28276201

7

A novel Xp22.13 microdeletion in Nance-Horan syndrome.

Accogli A, Traverso M, Madia F, Bellini T, Vari MS, Pinto F, Capra V. Accogli A, et al. Birth Defects Res. 2017 Jul 3;109(11):866-868. doi: 10.1002/bdr2.1032. Epub 2017 May 2. Birth Defects Res. 2017. PMID: 28464487

8

Novel AMPD2 mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities.

Accogli A, Iacomino M, Pinto F, Orsini A, Vari MS, Selmi R, Torella A, Nigro V, Minetti C, Severino M, Striano P, Capra V, Zara F. Accogli A, et al. Neurol Genet. 2017 Aug 9;3(5):e179. doi: 10.1212/NXG.0000000000000179. eCollection 2017 Oct. Neurol Genet. 2017. PMID: 28815207 Free PMC article. No abstract available.

9

Moyamoya Vasculopathy in PHACE Syndrome: Six New Cases and Review of the Literature.

Tortora D, Severino M, Accogli A, Martinetti C, Vercellino N, Capra V, Rossi A, Pavanello M. Tortora D, et al. Among authors: accogli a. World Neurosurg. 2017 Dec;108:291-302. doi: 10.1016/j.wneu.2017.08.176. Epub 2017 Sep 5. World Neurosurg. 2017. PMID: 28887276 Review.

10

A novel pathogenic MYH3 mutation in a child with Sheldon-Hall syndrome and vertebral fusions.

Scala M, Accogli A, De Grandis E, Allegri A, Bagowski CP, Shoukier M, Maghnie M, Capra V. Scala M, et al. Among authors: accogli a. Am J Med Genet A. 2018 Mar;176(3):663-667. doi: 10.1002/ajmg.a.38593. Epub 2018 Jan 5. Am J Med Genet A. 2018. PMID: 29314551 Review.

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