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Page 1
Clinical and radiological description of 120 pediatric stroke-like episodes.
Durrleman C, Grevent D, Aubart M, Kossorotoff M, Roux CJ, Kaminska A, Rio M, Barcia G, Boddaert N, Munnich A, Nabbout R, Desguerre I. Durrleman C, et al. Among authors: munnich a. Eur J Neurol. 2023 Jul;30(7):2051-2061. doi: 10.1111/ene.15821. Epub 2023 May 10. Eur J Neurol. 2023. PMID: 37046408
Reply: De novo mutations in CLDN5: alternating hemiplegia of childhood or not?
Desguerre I, Aubart M, Hashimoto Y, Poirier K, Kaminska A, Alison M, Boddaert N, Munnich A, Campbell M. Desguerre I, et al. Among authors: munnich a. Brain. 2023 Aug 1;146(8):e59-e60. doi: 10.1093/brain/awad054. Brain. 2023. PMID: 36825462 Free PMC article. No abstract available.
Polyradiculoneuritis on MRI: An Overlooked Feature of Biallelic POLG Gene Mutations in Infancy.
Roux CJ, Dufeu-Berat CM, Hully M, Rotig A, Schiff M, De Lonlay P, Aubart M, Alison M, Jaroussie M, Levy R, Dangouloff-Ros V, Barcia G, Desguerre I, Munnich A, Gitiaux C, Boddaert N. Roux CJ, et al. Among authors: munnich a. Neurology. 2024 Jun;102(11):e209356. doi: 10.1212/WNL.0000000000209356. Epub 2024 May 16. Neurology. 2024. PMID: 38754044 No abstract available.
Pregnancy in MNGIE: a clinical and metabolic honeymoon.
Pappalardo P, Benoist JF, Bax BE, Carra-Dallière C, Marelli C, Levene M, Begue L, Rolland A, Flori N, Rivier F, Blanchet C, Munnich A, Altwegg R, Meyer P, Roubertie A. Pappalardo P, et al. Among authors: munnich a. Ann Clin Transl Neurol. 2020 Dec;7(12):2484-2488. doi: 10.1002/acn3.51202. Epub 2020 Nov 7. Ann Clin Transl Neurol. 2020. PMID: 33159497 Free PMC article.
Deferiprone in Friedreich ataxia: a 6-month randomized controlled trial.
Pandolfo M, Arpa J, Delatycki MB, Le Quan Sang KH, Mariotti C, Munnich A, Sanz-Gallego I, Tai G, Tarnopolsky MA, Taroni F, Spino M, Tricta F. Pandolfo M, et al. Among authors: munnich a. Ann Neurol. 2014 Oct;76(4):509-21. doi: 10.1002/ana.24248. Epub 2014 Aug 30. Ann Neurol. 2014. PMID: 25112865 Clinical Trial.
A 1D imaging soft X-ray spectrometer for the small quantum systems instrument at the European XFEL.
Agåker M, Söderström J, Baumann TM, Englund CJ, Kjellsson L, Boll R, De Fanis A, Dold S, Mazza T, Montaño J, Münnich A, Mullins T, Ovcharenko Y, Rennhack N, Schmidt P, Senfftleben B, Turcato M, Usenko S, Meyer M, Nordgren J, Rubensson JE. Agåker M, et al. Among authors: munnich a. J Synchrotron Radiat. 2024 Sep 1;31(Pt 5):1264-1275. doi: 10.1107/S1600577524005988. Epub 2024 Jul 30. J Synchrotron Radiat. 2024. PMID: 39078692 Free PMC article.
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency.
Rötig A, Gaignard P, Barcia G, Assouline Z, Berat CM, Barth M, Damaj L, Laborde N, Abi-Warde MT, Chabrol B, De Lonlay P, Desguerre I, Goldenberg A, Gonzales E, Jacquemin E, Amati-Bonneau P, Bonneau D, Abadie V, Bonnemains C, Broue P, De Saint-Martin A, Durand P, Fouilhoux A, Isidor B, Jaroussie M, Jedraszak G, Maurey H, Mention K, Odent SS, Pasquier L, Rougeot-Jung C, Gitiaux C, Roux CJ, Boddaert N, Munnich A, Schiff M. Rötig A, et al. Among authors: munnich a. Neurol Genet. 2024 Jul 3;10(4):e200167. doi: 10.1212/NXG.0000000000200167. eCollection 2024 Aug. Neurol Genet. 2024. PMID: 38975049 Free PMC article.
1,068 results