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Year Number of Results
2012 1
2013 3
2014 4
2015 2
2016 4
2017 6
2018 5
2019 7
2020 6
2021 8
2022 3
2023 5
2024 1

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49 results

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Page 1
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: hully m. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.
Frémond ML, Hully M, Fournier B, Barrois R, Lévy R, Aubart M, Castelle M, Chabalier D, Gins C, Sarda E, Al Adba B, Couderc S, D' Almeida C, Berat CM, Durrleman C, Espil C, Lambert L, Méni C, Périvier M, Pillet P, Polivka L, Schiff M, Todosi C, Uettwiller F, Lepelley A, Rice GI, Seabra L, Sanquer S, Hulin A, Pressiat C, Goldwirt L, Bondet V, Duffy D, Moshous D, Bader-Meunier B, Bodemer C, Robin-Renaldo F, Boddaert N, Blanche S, Desguerre I, Crow YJ, Neven B. Frémond ML, et al. Among authors: hully m. J Clin Immunol. 2023 Aug;43(6):1436-1447. doi: 10.1007/s10875-023-01500-z. Epub 2023 May 12. J Clin Immunol. 2023. PMID: 37171742 Free PMC article.
Mitochondrial disorders and epilepsy.
Desguerre I, Hully M, Rio M, Nabbout R. Desguerre I, et al. Among authors: hully m. Rev Neurol (Paris). 2014 May;170(5):375-80. doi: 10.1016/j.neurol.2014.03.010. Epub 2014 May 5. Rev Neurol (Paris). 2014. PMID: 24810279 Review.
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A.
Lepelley A, Della Mina E, Van Nieuwenhove E, Waumans L, Fraitag S, Rice GI, Dhir A, Frémond ML, Rodero MP, Seabra L, Carter E, Bodemer C, Buhas D, Callewaert B, de Lonlay P, De Somer L, Dyment DA, Faes F, Grove L, Holden S, Hully M, Kurian MA, McMillan HJ, Suetens K, Tyynismaa H, Chhun S, Wai T, Wouters C, Bader-Meunier B, Crow YJ. Lepelley A, et al. Among authors: hully m. J Exp Med. 2021 Oct 4;218(10):e20201560. doi: 10.1084/jem.20201560. Epub 2021 Aug 13. J Exp Med. 2021. PMID: 34387651 Free PMC article.
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.
JAK Inhibition in the Aicardi-Goutières Syndrome.
Neven B, Al Adba B, Hully M, Desguerre I, Pressiat C, Boddaert N, Duffy D, Rice GI, Seabra L, Frémond ML, Blanche S, Crow YJ. Neven B, et al. Among authors: hully m. N Engl J Med. 2020 Nov 26;383(22):2190-2191. doi: 10.1056/NEJMc2031081. N Engl J Med. 2020. PMID: 33252884 No abstract available.
Neurological Involvement in Childhood Evans Syndrome.
Pincez T, Neven B, Le Pointe HD, Varlet P, Fernandes H, Gareton A, Leverger G, Leblanc T, Chambost H, Michel G, Pasquet M, Millot F, Hermine O, Mathian A, Hully M, Zephir H, Hamidou M, Durand JM, Perel Y, Landman-Parker J, Rieux-Laucat F, Aladjidi N. Pincez T, et al. Among authors: hully m. J Clin Immunol. 2019 Feb;39(2):171-181. doi: 10.1007/s10875-019-0594-3. Epub 2019 Jan 22. J Clin Immunol. 2019. PMID: 30671780 Free article.
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
Association between acute complications in PMM2-CDG patients and haemostasis anomalies: Data from a multicentric study and suggestions for acute management.
Wicker C, Roux CJ, Goujon L, de Feraudy Y, Hully M, Brassier A, Bérat CM, Chemaly N, Wiedemann A, Damaj L, Abi-Warde MT, Dobbelaere D, Roubertie A, Cano A, Arion A, Kaminska A, Da Costa S, Bruneel A, Vuillaumier-Barrot S, Boddaert N, Pascreau T, Borgel D, Kossorotoff M, Harroche A, de Lonlay P. Wicker C, et al. Among authors: hully m. Mol Genet Metab. 2023 Nov;140(3):107674. doi: 10.1016/j.ymgme.2023.107674. Epub 2023 Jul 31. Mol Genet Metab. 2023. PMID: 37542768
Cardiac valve involvement in ADAR-related type I interferonopathy.
Crow Y, Keshavan N, Barbet JP, Bercu G, Bondet V, Boussard C, Dedieu N, Duffy D, Hully M, Giardini A, Gitiaux C, Rice GI, Seabra L, Bader-Meunier B, Rahman S. Crow Y, et al. Among authors: hully m. J Med Genet. 2020 Jul;57(7):475-478. doi: 10.1136/jmedgenet-2019-106457. Epub 2019 Nov 26. J Med Genet. 2020. PMID: 31772029
49 results