Boespflug-Tanguy O - Search Results

1

One-step Reprogramming of Human Fibroblasts into Oligodendrocyte-like Cells by SOX10, OLIG2, and NKX6.2.

Chanoumidou K, Hernández-Rodríguez B, Windener F, Thomas C, Stehling M, Mozafari S, Albrecht S, Ottoboni L, Antel J, Kim KP, Velychko S, Cui QL, Xu YKT, Martino G, Winkler J, Schöler HR, Baron-Van Evercooren A, Boespflug-Tanguy O, Vaquerizas JM, Ehrlich M, Kuhlmann T. Chanoumidou K, et al. Stem Cell Reports. 2021 Apr 13;16(4):771-783. doi: 10.1016/j.stemcr.2021.03.001. Epub 2021 Mar 25. Stem Cell Reports. 2021. PMID: 33770499 Free PMC article.

2

Inborn errors of brain myelin formation.

Boespflug-Tanguy O. Boespflug-Tanguy O. Handb Clin Neurol. 2013;113:1581-92. doi: 10.1016/B978-0-444-59565-2.00027-7. Handb Clin Neurol. 2013. PMID: 23622380 Review.

3

PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.

Bonnet-Dupeyron MN, Combes P, Santander P, Cailloux F, Boespflug-Tanguy O, Vaurs-Barrière C. Bonnet-Dupeyron MN, et al. Hum Mutat. 2008 Aug;29(8):1028-36. doi: 10.1002/humu.20758. Hum Mutat. 2008. PMID: 18470932

4

Time-course of myelination and atrophy on cerebral imaging in 35 patients with PLP1-related disorders.

Sarret C, Lemaire JJ, Tonduti D, Sontheimer A, Coste J, Pereira B, Feschet F, Roche B, Boespflug-Tanguy O. Sarret C, et al. Dev Med Child Neurol. 2016 Jul;58(7):706-13. doi: 10.1111/dmcn.13025. Epub 2016 Jan 19. Dev Med Child Neurol. 2016. PMID: 26786043 Free article.

5

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy.

Dorboz I, Aiello C, Simons C, Stone RT, Niceta M, Elmaleh M, Abuawad M, Doummar D, Bruselles A, Wolf NI, Travaglini L, Boespflug-Tanguy O, Tartaglia M, Vanderver A, Rodriguez D, Bertini E. Dorboz I, et al. Brain. 2017 Oct 1;140(10):2550-2556. doi: 10.1093/brain/awx207. Brain. 2017. PMID: 28969374

6

Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.

Ruiz M, Bégou M, Launay N, Ranea-Robles P, Bianchi P, López-Erauskin J, Morató L, Guilera C, Petit B, Vaurs-Barriere C, Guéret-Gonthier C, Bonnet-Dupeyron MN, Fourcade S, Auwerx J, Boespflug-Tanguy O, Pujol A. Ruiz M, et al. Brain Pathol. 2018 Sep;28(5):611-630. doi: 10.1111/bpa.12571. Epub 2017 Dec 26. Brain Pathol. 2018. PMID: 29027761 Free PMC article.

7

Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy.

Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J. Shy ME, et al. Ann Neurol. 2003 Mar;53(3):354-65. doi: 10.1002/ana.10466. Ann Neurol. 2003. PMID: 12601703 Free PMC article.

8

Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease.

Mignot C, Delarasse C, Escaich S, Della Gaspera B, Noé E, Colucci-Guyon E, Babinet C, Pekny M, Vicart P, Boespflug-Tanguy O, Dautigny A, Rodriguez D, Pham-Dinh D. Mignot C, et al. Exp Cell Res. 2007 Aug 1;313(13):2766-79. doi: 10.1016/j.yexcr.2007.04.035. Epub 2007 May 24. Exp Cell Res. 2007. PMID: 17604020

9

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.

Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gärtner J. Henneke M, et al. Neurology. 2008 Mar 4;70(10):748-54. doi: 10.1212/01.wnl.0000284828.84464.35. Epub 2007 Dec 19. Neurology. 2008. PMID: 18094336

10

Mutation of Proteolipid Protein 1 Gene: From Severe Hypomyelinating Leukodystrophy to Inherited Spastic Paraplegia.

Khalaf G, Mattern C, Begou M, Boespflug-Tanguy O, Massaad C, Massaad-Massade L. Khalaf G, et al. Biomedicines. 2022 Jul 15;10(7):1709. doi: 10.3390/biomedicines10071709. Biomedicines. 2022. PMID: 35885014 Free PMC article. Review.

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