Accogli A - Search Results

1

De novo POLR2A p.(Ile457Thr) variant associated with early-onset encephalopathy and cerebellar atrophy: expanding the phenotypic spectrum.

Giacomini T, Scala M, Nobile G, Severino M, Tortora D, Nobili L, Accogli A, Torella A, Capra V, Mancardi MM, Nigro V; TUDP study group. Giacomini T, et al. Among authors: accogli a. Brain Dev. 2022 Aug;44(7):480-485. doi: 10.1016/j.braindev.2022.04.002. Epub 2022 Apr 20. Brain Dev. 2022. PMID: 35461703

2

mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.

Krochmalnek E, Accogli A, St-Onge J, Addour-Boudrahem N, Prakash G, Kim SH, Brunette-Clement T, Alhajaj G, Mougharbel L, Bruneau E, Myers KA, Dubeau F, Karamchandani J, Farmer JP, Atkinson J, Hall J, Chantal Poulin C, Rosenblatt B, Lafond-Lapalme J, Weil A, Fallet-Bianco C, Albrecht S, Sonenberg N, Riviere JB, Dudley RW, Srour M. Krochmalnek E, et al. Among authors: accogli a. Neurol Genet. 2023 Oct 26;9(6):e200103. doi: 10.1212/NXG.0000000000200103. eCollection 2023 Dec. Neurol Genet. 2023. PMID: 37900581 Free PMC article.

3

Association of achondroplasia with sagittal synostosis and scaphocephaly in two patients, an underestimated condition?

Accogli A, Pacetti M, Fiaschi P, Pavanello M, Piatelli G, Nuzzi D, Baldi M, Tassano E, Severino MS, Allegri A, Capra V. Accogli A, et al. Am J Med Genet A. 2015 Mar;167A(3):646-52. doi: 10.1002/ajmg.a.36933. Am J Med Genet A. 2015. PMID: 25691418 Review.

4

Clinico-radiological and molecular characterization of a child with ring chromosome 2 presenting growth failure, microcephaly, kidney and brain malformations.

Severino M, Accogli A, Gimelli G, Rossi A, Kotzeva S, Di Rocco M, Ronchetto P, Cuoco C, Tassano E. Severino M, et al. Among authors: accogli a. Mol Cytogenet. 2015 Mar 5;8:17. doi: 10.1186/s13039-015-0121-z. eCollection 2015. Mol Cytogenet. 2015. PMID: 25774222 Free PMC article.

5

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

6

Surgical results of cranioplasty with a polymethylmethacrylate customized cranial implant in pediatric patients: a single-center experience.

Fiaschi P, Pavanello M, Imperato A, Dallolio V, Accogli A, Capra V, Consales A, Cama A, Piatelli G. Fiaschi P, et al. Among authors: accogli a. J Neurosurg Pediatr. 2016 Jun;17(6):705-10. doi: 10.3171/2015.10.PEDS15489. Epub 2016 Jan 29. J Neurosurg Pediatr. 2016. PMID: 26824593

7

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.

8

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.

9

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.

10

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

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