Publications by authors named "Andrea Accogli"

48Publications

Neurogenesis, neuronal migration, and axon guidance.

Handb Clin Neurol 2020 ;173:25-42

Research Institute, McGill University Health Centre, Montreal, QC, Canada; Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montreal, QC, Canada. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-64150-2.00004-6DOI Listing
January 2020

Sinus pericranii, skull defects, and structural brain anomalies in TRAF7-related disorder.

Birth Defects Res 2020 Aug 27;112(14):1085-1092. Epub 2020 May 27.

UOC Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/bdr2.1711DOI Listing
August 2020

Heterozygous Missense Pathogenic Variants Within the Second Spectrin Repeat of SPTBN2 Lead to Infantile-Onset Cerebellar Ataxia.

J Child Neurol 2020 02 16;35(2):106-110. Epub 2019 Oct 16.

Department of Pediatrics, Division of Pediatric Neurology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1177/0883073819878917DOI Listing
February 2020

Chiari malformation type I: what information from the genetics?

Childs Nerv Syst 2019 10 5;35(10):1665-1671. Epub 2019 Aug 5.

UOSD Laboratorio Neurogenetica e Neuroscienze, IRCCS Istituto Giannina Gaslini, v. G. Gaslini 5, 16147, Genoa, Italy.

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http://dx.doi.org/10.1007/s00381-019-04322-wDOI Listing
October 2019

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

Am J Hum Genet 2019 06 9;104(6):1210-1222. Epub 2019 May 9.

Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.03.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6556837PMC
June 2019

Long-Standing Psychiatric Features as the Only Clinical Presentation of Vanishing White Matter Disease.

J Neuropsychiatry Clin Neurosci Summer 2019;31(3):276-279. Epub 2019 May 3.

The Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal (Accogli); DINOGMI-Università di Genova, Italy (Accogli); IRCCS Ospedale Policlinico San Martino, Genova, Italy (Accogli); the Laboratory of Neurogenetics of Motion, Montreal Neurological Institute, McGill University, Montreal (Brais, La Piana); the Department of Human Genetics, McGill University, Montreal (Brais); the Department of Diagnostic Radiology, Kingston General Hospital, Queen's University, Kingston, Ontario, Canada (Tampieri); and the Department of Neuroradiology, Montreal Neurological Hospital and Institute, McGill University, Montreal (La Piana).

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http://dx.doi.org/10.1176/appi.neuropsych.18110279DOI Listing
March 2020

Pathogenic variants in AIMP1 cause pontocerebellar hypoplasia.

Neurogenetics 2019 05 28;20(2):103-108. Epub 2019 Mar 28.

Departments of Pediatrics, Neurology & Neurosurgery, MUHC-Research Institute, McGill University, 1001 Blvd Décarie, Montreal, H4A 3J1, Canada.

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http://link.springer.com/10.1007/s10048-019-00572-7
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http://dx.doi.org/10.1007/s10048-019-00572-7DOI Listing
May 2019

Mutation and Mosaic Turner Syndrome in a Female Patient With Intellectual Disability and Psychiatric Features.

J Neuropsychiatry Clin Neurosci Summer 2019;31(3):272-275. Epub 2019 Mar 19.

The Department of Medical Genetics, McGill University Health Centre, Montreal (Accogli, Yang, Trakadis); the Departments of Neurology and Neurosurgery and Pediatrics, McGill University, Montreal (Accogli); the DINOGMI-Università di Genova, Italy (Accogli); the Douglas Mental Health University Institute, Montreal (Blain-Juste, Shah); and the Department of Human Genetics, McGill University, Montreal (Braverman, Trakadis).

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http://dx.doi.org/10.1176/appi.neuropsych.18100228DOI Listing
March 2020

Diagnostic Yield of Intellectual Disability Gene Panels.

Pediatr Neurol 2019 03 22;92:32-36. Epub 2018 Nov 22.

Division of Pediatric Neurology, Departments of Pediatrics and Neurology & Neurosurgery, McGill University, Montreal, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.pediatrneurol.2018.11.005DOI Listing
March 2019

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease.

J Child Neurol 2019 02 28;34(2):74-80. Epub 2018 Nov 28.

1 Departments of Neurology and Neurosurgery, Pediatrics and Human Genetics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1177/0883073818811223DOI Listing
February 2019

Developmental outcomes in children with congenital cerebellar malformations.

Dev Med Child Neurol 2019 03 15;61(3):350-358. Epub 2018 Oct 15.

Division of Pediatric Neurology, Department of Pediatrics, Neurology/Neurosurgery, Montreal Children's Hospital, McGill University Health Center, Montreal, Canada.

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http://doi.wiley.com/10.1111/dmcn.14059
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http://dx.doi.org/10.1111/dmcn.14059DOI Listing
March 2019

Teaching Video NeuroImages: Figure 8 head-shaking stereotypy in rhombencephalosynapsis.

Neurology 2018 05;90(20):e1832-e1833

From the Departments of Pediatrics (A.A., M.S.) and Neurology and Neurosurgery (M.S.), McGill University, Montreal, Canada; Istituto Giannina Gaslini (A.A.), Genova; and Università degli Studi di Genova (A.A.), Italy.

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http://dx.doi.org/10.1212/WNL.0000000000005531DOI Listing
May 2018

Epileptic Encephalopathy in Adams-Oliver Syndrome Associated to a New DOCK6 Mutation: A Peculiar Behavioral Phenotype.

Neuropediatrics 2018 06 9;49(3):217-221. Epub 2018 Apr 9.

Child Neuropsychiatry Unit, Epilepsy Centre, Head Neck Neuroscience Department, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1055/s-0038-1639372DOI Listing
June 2018

A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.

Am J Med Genet A 2018 04 12;176(4):985-991. Epub 2018 Feb 12.

Department of Pediatrics, McGill University, Montreal, Canada.

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http://dx.doi.org/10.1002/ajmg.a.38628DOI Listing
April 2018

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

Am J Med Genet A 2018 03 5;176(3):663-667. Epub 2018 Jan 5.

UOC Neurochirurgia, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1002/ajmg.a.38593DOI Listing
March 2018

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

World Neurosurg 2017 Dec 5;108:291-302. Epub 2017 Sep 5.

Department of Neurosurgery, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1016/j.wneu.2017.08.176DOI Listing
December 2017

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

Neurol Genet 2017 Oct 9;3(5):e179. Epub 2017 Aug 9.

Istituto G. Gaslini (A.A., M.I., F.P., A.O., M.S.V., C.M., M.S., P.S., V.C., F.Z.), Genova; Università degli Studi di Genova (A.A., M.I., C.M., P.S.); Ospedale San Paolo (R.S.), Milano, Italy; Dipartimento di Biochimica Biofisica e Patologia Generale (A.T., V.N.), Seconda Università di Napoli; and Telethon Institute of Genetics and Medicine (A.T., V.N.).

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http://dx.doi.org/10.1212/NXG.0000000000000179DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5550382PMC
October 2017

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

Birth Defects Res 2017 Jul 2;109(11):866-868. Epub 2017 May 2.

Istituto G. Gaslini, Genova, Italy.

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http://dx.doi.org/10.1002/bdr2.1032DOI Listing
July 2017

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

Hum Mutat 2017 06 24;38(6):716-724. Epub 2017 Mar 24.

CHU Sainte Justine Research Center and University of Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/humu.23214DOI Listing
June 2017

Genetic Screening of Pediatric Cavernous Malformations.

J Mol Neurosci 2016 Oct 25;60(2):232-8. Epub 2016 Aug 25.

Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s12031-016-0806-8DOI Listing
October 2016

Phenotypic and genetic characterization of a patient with a de novo interstitial 14q24.1q24.3 deletion.

Mol Cytogenet 2014 21;7:49. Epub 2014 Jul 21.

Laboratorio di Citogenetica, Istituto G.Gaslini, L.go G.Gaslini 5, Genoa 16147, Italy.

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http://dx.doi.org/10.1186/1755-8166-7-49DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115490PMC
July 2014

Serum-specific IgE and allergen immunotherapy in allergic children.

Immunotherapy 2014 ;6(1):29-33

Pediatric Pulmonology & Allergy Unit, Istituto Giannina Gaslini, Genoa, Italy.

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https://www.futuremedicine.com/doi/10.2217/imt.13.145
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http://dx.doi.org/10.2217/imt.13.145DOI Listing
August 2014