Boespflug-Tanguy O - Search Results

1

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.

2

Characterisation of spinal cord in a mouse model of spastic paraplegia related to abnormal axono-myelin interactions by in vivo quantitative MRI.

Hassen WB, Bégou M, Traore A, Moussa AB, Boehm N, Ghandour MS, Renou JP, Boespflug-Tanguy O, Bonny JM. Hassen WB, et al. Neuroimage. 2009 May 15;46(1):1-9. doi: 10.1016/j.neuroimage.2009.01.022. Epub 2009 Jan 24. Neuroimage. 2009. PMID: 19457399

3

Mice with a deletion of the major central myelin protein exhibit hypersensitivity to noxious thermal stimuli: involvement of central sensitization.

Petit B, Giraudet F, Béchon C, Bardin L, Avan P, Boespflug-Tanguy O, Bégou M. Petit B, et al. Neurobiol Dis. 2014 May;65:55-68. doi: 10.1016/j.nbd.2014.01.005. Epub 2014 Jan 11. Neurobiol Dis. 2014. PMID: 24423646

4

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.

5

Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations. Clinical European Network on Brain Dysmyelinating Disease.

Cailloux F, Gauthier-Barichard F, Mimault C, Isabelle V, Courtois V, Giraud G, Dastugue B, Boespflug-Tanguy O. Cailloux F, et al. Eur J Hum Genet. 2000 Nov;8(11):837-45. doi: 10.1038/sj.ejhg.5200537. Eur J Hum Genet. 2000. PMID: 11093273

6

Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.

Boespflug-Tanguy O, Aubourg P, Dorboz I, Bégou M, Giraud G, Sarret C, Vaurs-Barrière C. Boespflug-Tanguy O, et al. Am J Hum Genet. 2011 Mar 11;88(3):392-3; author reply 393-5. doi: 10.1016/j.ajhg.2010.12.015. Am J Hum Genet. 2011. PMID: 21397067 Free PMC article. No abstract available.

7

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

8

Mutation in POLR3K causes hypomyelinating leukodystrophy and abnormal ribosomal RNA regulation.

Dorboz I, Dumay-Odelot H, Boussaid K, Bouyacoub Y, Barreau P, Samaan S, Jmel H, Eymard-Pierre E, Cances C, Bar C, Poulat AL, Rousselle C, Renaldo F, Elmaleh-Bergès M, Teichmann M, Boespflug-Tanguy O. Dorboz I, et al. Neurol Genet. 2018 Dec 3;4(6):e289. doi: 10.1212/NXG.0000000000000289. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30584594 Free PMC article.

9

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus.

Saugier-Veber P, Munnich A, Bonneau D, Rozet JM, Le Merrer M, Gil R, Boespflug-Tanguy O. Saugier-Veber P, et al. Nat Genet. 1994 Mar;6(3):257-62. doi: 10.1038/ng0394-257. Nat Genet. 1994. PMID: 8012387

10

Insertion of mutant proteolipid protein results in missorting of myelin proteins.

Vaurs-Barriere C, Wong K, Weibel TD, Abu-Asab M, Weiss MD, Kaneski CR, Mixon TH, Bonavita S, Creveaux I, Heiss JD, Tsokos M, Goldin E, Quarles RH, Boespflug-Tanguy O, Schiffmann R. Vaurs-Barriere C, et al. Ann Neurol. 2003 Dec;54(6):769-80. doi: 10.1002/ana.10762. Ann Neurol. 2003. PMID: 14681886 Free PMC article.

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