Dumanchin C - Search Results

1

Valosin-containing protein gene mutations: clinical and neuropathologic features.

Guyant-Maréchal L, Laquerrière A, Duyckaerts C, Dumanchin C, Bou J, Dugny F, Le Ber I, Frébourg T, Hannequin D, Campion D. Guyant-Maréchal L, et al. Among authors: dumanchin c. Neurology. 2006 Aug 22;67(4):644-51. doi: 10.1212/01.wnl.0000225184.14578.d3. Epub 2006 Jun 21. Neurology. 2006. PMID: 16790606

2

Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation.

Maréchal L, Raux G, Dumanchin C, Lefebvre G, Deslandre E, Girard C, Campion D, Parain D, Frebourg T, Hannequin D. Maréchal L, et al. Among authors: dumanchin c. Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):114-7. doi: 10.1002/ajmg.b.10062. Am J Med Genet B Neuropsychiatr Genet. 2003. PMID: 12707948

3

A novel presenilin 1 mutation resulting in familial Alzheimer's disease with an onset age of 29 years.

Campion D, Brice A, Dumanchin C, Puel M, Baulac M, De La Sayette V, Hannequin D, Duyckaerts C, Michon A, Martin C, Moreau V, Penet C, Martinez M, Clerget-Darpoux F, Agid Y, Frebourg T. Campion D, et al. Among authors: dumanchin c. Neuroreport. 1996 Jul 8;7(10):1582-4. doi: 10.1097/00001756-199607080-00009. Neuroreport. 1996. PMID: 8904759

4

De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.

Dumanchin C, Brice A, Campion D, Hannequin D, Martin C, Moreau V, Agid Y, Martinez M, Clerget-Darpoux F, Frebourg T. Dumanchin C, et al. J Med Genet. 1998 Aug;35(8):672-3. doi: 10.1136/jmg.35.8.672. J Med Genet. 1998. PMID: 9719376 Free PMC article.

5

Segregation of a missense mutation in the microtubule-associated protein tau gene with familial frontotemporal dementia and parkinsonism.

Dumanchin C, Camuzat A, Campion D, Verpillat P, Hannequin D, Dubois B, Saugier-Veber P, Martin C, Penet C, Charbonnier F, Agid Y, Frebourg T, Brice A. Dumanchin C, et al. Hum Mol Genet. 1998 Oct;7(11):1825-9. doi: 10.1093/hmg/7.11.1825. Hum Mol Genet. 1998. PMID: 9736786

6

[Genetics of Alzheimer's disease].

Hannequin D, Campion D, Dumanchin C, Martinez M, Agid Y, Clerget-Darpoux F, Frebourg T, Brice A. Hannequin D, et al. Among authors: dumanchin c. Rev Neurol (Paris). 1998;154 Suppl 2:S65-74. Rev Neurol (Paris). 1998. PMID: 9834545 Review. French.

7

Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T. Campion D, et al. Among authors: dumanchin c. Am J Hum Genet. 1999 Sep;65(3):664-70. doi: 10.1086/302553. Am J Hum Genet. 1999. PMID: 10441572 Free PMC article.

8

Tau is not normally degraded by the proteasome.

Feuillette S, Blard O, Lecourtois M, Frébourg T, Campion D, Dumanchin C. Feuillette S, et al. Among authors: dumanchin c. J Neurosci Res. 2005 May 1;80(3):400-5. doi: 10.1002/jnr.20414. J Neurosci Res. 2005. PMID: 15795929

9

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.

Rovelet-Lecrux A, Hannequin D, Raux G, Le Meur N, Laquerrière A, Vital A, Dumanchin C, Feuillette S, Brice A, Vercelletto M, Dubas F, Frebourg T, Campion D. Rovelet-Lecrux A, et al. Among authors: dumanchin c. Nat Genet. 2006 Jan;38(1):24-6. doi: 10.1038/ng1718. Epub 2005 Dec 20. Nat Genet. 2006. PMID: 16369530

10

Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques.

Dumanchin C, Tournier I, Martin C, Didic M, Belliard S, Carlander B, Rouhart F, Duyckaerts C, Pellissier JF, Latouche JB, Hannequin D, Frebourg T, Tosi M, Campion D. Dumanchin C, et al. Hum Mutat. 2006 Oct;27(10):1063. doi: 10.1002/humu.9458. Hum Mutat. 2006. PMID: 16941492

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