Hully M - Search Results

1

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy.

Cafournet C, Zanin S, Guimier A, Hully M, Assouline Z, Barcia G, de Lonlay P, Steffann J, Munnich A, Bonnefont JP, Rötig A, Ruzzenente B, Metodiev MD. Cafournet C, et al. Among authors: hully m. Life (Basel). 2023 Feb 4;13(2):445. doi: 10.3390/life13020445. Life (Basel). 2023. PMID: 36836802 Free PMC article.

2

Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome.

Rice GI, Meyzer C, Bouazza N, Hully M, Boddaert N, Semeraro M, Zeef LAH, Rozenberg F, Bondet V, Duffy D, Llibre A, Baek J, Sambe MN, Henry E, Jolaine V, Barnerias C, Barth M, Belot A, Cances C, Debray FG, Doummar D, Frémond ML, Kitabayashi N, Lepelley A, Levrat V, Melki I, Meyer P, Nougues MC, Renaldo F, Rodero MP, Rodriguez D, Roubertie A, Seabra L, Uggenti C, Abdoul H, Treluyer JM, Desguerre I, Blanche S, Crow YJ. Rice GI, et al. Among authors: hully m. N Engl J Med. 2018 Dec 6;379(23):2275-7. doi: 10.1056/NEJMc1810983. N Engl J Med. 2018. PMID: 30566312 Free article. No abstract available.

3

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy.

Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, Lerman-Sagie T, Lev D, Magalie B, Moutton S, Haan E, Isidor B, Heron D, Milh M, Rondeau S, Michot C, Valence S, Wagner S, Hully M, Mignot C, Masurel A, Datta A, Odent S, Nizon M, Lazaro L, Vincent M, Cogné B, Guerrot AM, Arpin S, Pedespan JM, Caubel I, Pontier B, Troude B, Rivier F, Philippe C, Bienvenu T, Spitz MA, Bery A, Bahi-Buisson N. Vegas N, et al. Among authors: hully m. Neurol Genet. 2018 Nov 7;4(6):e281. doi: 10.1212/NXG.0000000000000281. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533527 Free PMC article.

4

Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

Hully M, Ropars J, Hubert L, Boddaert N, Rio M, Bernardelli M, Desguerre I, Cormier-Daire V, Munnich A, de Lonlay P, Reilly L, Besmond C, Bahi-Buisson N. Hully M, et al. Neurogenetics. 2017 Jan;18(1):23-28. doi: 10.1007/s10048-016-0498-9. Epub 2016 Oct 10. Neurogenetics. 2017. PMID: 27726050

5

PLA2G6-associated neurodegeneration: Lessons from neurophysiological findings.

Gitiaux C, Kaminska A, Boddaert N, Barcia G, Guéden S, The Tich SN, De Lonlay P, Quijano-Roy S, Hully M, Péréon Y, Desguerre I. Gitiaux C, et al. Among authors: hully m. Eur J Paediatr Neurol. 2018 Sep;22(5):854-861. doi: 10.1016/j.ejpn.2018.05.005. Epub 2018 May 22. Eur J Paediatr Neurol. 2018. PMID: 29859652

6

A novel de novo PDGFRB variant in a child with severe cerebral malformations, intracerebral calcifications, and infantile myofibromatosis.

Guimier A, Gordon CT, Hully M, Blauwblomme T, Minard-Colin V, Bole-Feysot C, Nitschké P, Oufadem M, Boddaert N, Sarnacki S, Amiel J. Guimier A, et al. Among authors: hully m. Am J Med Genet A. 2019 Jul;179(7):1304-1309. doi: 10.1002/ajmg.a.61151. Epub 2019 Apr 19. Am J Med Genet A. 2019. PMID: 31004414

7

Clinical, neuroimaging and biochemical findings in patients and patient fibroblasts expressing ten novel GFM1 mutations.

Barcia G, Rio M, Assouline Z, Zangarelli C, Gueguen N, Dumas VD, Marcorelles P, Schiff M, Slama A, Barth M, Hully M, de Lonlay P, Munnich A, Desguerre I, Bonnefont JP, Steffann J, Procaccio V, Boddaert N, Rötig A, Metodiev MD, Ruzzenente B. Barcia G, et al. Among authors: hully m. Hum Mutat. 2020 Feb;41(2):397-402. doi: 10.1002/humu.23937. Epub 2019 Nov 11. Hum Mutat. 2020. PMID: 31680380

8

Deep phenotyping unstructured data mining in an extensive pediatric database to unravel a common KCNA2 variant in neurodevelopmental syndromes.

Hully M, Lo Barco T, Kaminska A, Barcia G, Cances C, Mignot C, Desguerre I, Garcelon N, Kabashi E, Nabbout R. Hully M, et al. Genet Med. 2021 May;23(5):968-971. doi: 10.1038/s41436-020-01039-z. Epub 2021 Jan 26. Genet Med. 2021. PMID: 33500571 Free PMC article.

9

Inherited glycosylphosphatidylinositol defects cause the rare Emm-negative blood phenotype and developmental disorders.

Duval R, Nicolas G, Willemetz A, Murakami Y, Mikdar M, Vrignaud C, Megahed H, Cartron JP, Masson C, Wehbi S, Koehl B, Hully M, Siquier K, Chemlay N, Rotig A, Lyonnet S, Colin Y, Barcia G, Cantagrel V, Le Van Kim C, Hermine O, Kinoshita T, Peyrard T, Azouzi S. Duval R, et al. Among authors: hully m. Blood. 2021 Jul 1;137(26):3660-3669. doi: 10.1182/blood.2020009810. Blood. 2021. PMID: 33763700 Free article.

10

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome.

Dangles MT, Malan V, Dumas G, Romana S, Raoul O, Coste-Zeitoun D, Soufflet C, Vignolo-Diard P, Bahi-Buisson N, Barnérias C, Chemaly N, Desguerre I, Gitiaux C, Hully M, Bourgeois M, Guimier A, Rio M, Munnich A, Nabbout R, Kaminska A, Eisermann M. Dangles MT, et al. Among authors: hully m. Clin Neurophysiol. 2021 May;132(5):1126-1137. doi: 10.1016/j.clinph.2021.02.010. Epub 2021 Mar 10. Clin Neurophysiol. 2021. PMID: 33773177

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