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Items: 1 to 50 of 69

1.

Novel VCP mutations expand the mutational spectrum of frontotemporal dementia.

Saracino D, Clot F, Camuzat A, Anquetil V, Hannequin D, Guyant-Maréchal L, Didic M, Guillot-Noël L, Rinaldi D, Latouche M, Forlani S, Ghassab Y, Coppola C, Di Iorio G, David I; French research network on FTD/FTD-ALS, Le Guern E, Brice A, Le Ber I.

Neurobiol Aging. 2018 Jun 30. pii: S0197-4580(18)30242-2. doi: 10.1016/j.neurobiolaging.2018.06.037. [Epub ahead of print]

PMID:
30005904
2.

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias.

Fournier C, Anquetil V, Camuzat A, Stirati-Buron S, Sazdovitch V, Molina-Porcel L, Turbant S, Rinaldi D, Sánchez-Valle R, Barbier M, Latouche M; Neuro-CEB Neuropathology Network, Stevanin G, Seilhean D, Brice A, Duyckaerts C, Le Ber I.

Acta Neuropathol Commun. 2018 May 30;6(1):41. doi: 10.1186/s40478-018-0547-8. No abstract available.

3.

Factors influencing the age at onset in familial frontotemporal lobar dementia: Important weight of genetics.

Barbier M, Camuzat A, Houot M, Clot F, Caroppo P, Fournier C, Rinaldi D, Pasquier F, Hannequin D, Pariente J, Larcher K; French Clinical and Genetic Research Network on FTD/FTD-ALS*; Predict-PGRN & PrevDemAls Study Groups†, Brice A, Génin E, Sabbagh A, Le Ber I.

Neurol Genet. 2017 Dec 13;3(6):e203. doi: 10.1212/NXG.0000000000000203. eCollection 2017 Dec.

4.

Early Cognitive, Structural, and Microstructural Changes in Presymptomatic C9orf72 Carriers Younger Than 40 Years.

Bertrand A, Wen J, Rinaldi D, Houot M, Sayah S, Camuzat A, Fournier C, Fontanella S, Routier A, Couratier P, Pasquier F, Habert MO, Hannequin D, Martinaud O, Caroppo P, Levy R, Dubois B, Brice A, Durrleman S, Colliot O, Le Ber I; Predict to Prevent Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis (PREV-DEMALS) Study Group.

JAMA Neurol. 2018 Feb 1;75(2):236-245. doi: 10.1001/jamaneurol.2017.4266.

PMID:
29197216
5.

Reduced Tau protein expression is associated with frontotemporal degeneration with progranulin mutation.

Papegaey A, Eddarkaoui S, Deramecourt V, Fernandez-Gomez FJ, Pantano P, Obriot H, Machala C, Anquetil V, Camuzat A, Brice A, Maurage CA, Le Ber I, Duyckaerts C, Buée L, Sergeant N, Buée-Scherrer V.

Acta Neuropathol Commun. 2016 Jul 19;4(1):74. doi: 10.1186/s40478-016-0345-0.

6.

Defining the spectrum of frontotemporal dementias associated with TARDBP mutations.

Caroppo P, Camuzat A, Guillot-Noel L, Thomas-Antérion C, Couratier P, Wong TH, Teichmann M, Golfier V, Auriacombe S, Belliard S, Laurent B, Lattante S, Millecamps S, Clot F, Dubois B, van Swieten JC, Brice A, Le Ber I.

Neurol Genet. 2016 May 26;2(3):e80. doi: 10.1212/NXG.0000000000000080. eCollection 2016 Jun.

7.

Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers.

Caroppo P, Camuzat A, De Septenville A, Couratier P, Lacomblez L, Auriacombe S, Flabeau O, Jornéa L, Blanc F, Sellal F, Cretin B, Meininger V, Fleury MC, Couarch P, Dubois B, Brice A, Le Ber I.

Alzheimers Dement (Amst). 2015 Oct 30;1(4):481-6. doi: 10.1016/j.dadm.2015.10.002. eCollection 2015 Dec.

8.

TBK1 mutation frequencies in French frontotemporal dementia and amyotrophic lateral sclerosis cohorts.

Le Ber I, De Septenville A, Millecamps S, Camuzat A, Caroppo P, Couratier P, Blanc F, Lacomblez L, Sellal F, Fleury MC, Meininger V, Cazeneuve C, Clot F, Flabeau O, LeGuern E, Brice A; French Clinical and Genetic Research Network on FTLD/FTLD-ALS.

Neurobiol Aging. 2015 Nov;36(11):3116.e5-3116.e8. doi: 10.1016/j.neurobiolaging.2015.08.009. Epub 2015 Aug 14.

PMID:
26476236
9.

Posterior cortical atrophy as an extreme phenotype of GRN mutations.

Caroppo P, Belin C, Grabli D, Maillet D, De Septenville A, Migliaccio R, Clot F, Lamari F, Camuzat A, Brice A, Dubois B, Le Ber I.

JAMA Neurol. 2015 Feb;72(2):224-8. doi: 10.1001/jamaneurol.2014.3308.

PMID:
25546130
10.

Extensive white matter involvement in patients with frontotemporal lobar degeneration: think progranulin.

Caroppo P, Le Ber I, Camuzat A, Clot F, Naccache L, Lamari F, De Septenville A, Bertrand A, Belliard S, Hannequin D, Colliot O, Brice A.

JAMA Neurol. 2014 Dec;71(12):1562-6. doi: 10.1001/jamaneurol.2014.1316.

PMID:
25317628
11.

Genetic analysis of matrin 3 gene in French amyotrophic lateral sclerosis patients and frontotemporal lobar degeneration with amyotrophic lateral sclerosis patients.

Millecamps S, De Septenville A, Teyssou E, Daniau M, Camuzat A, Albert M, LeGuern E, Galimberti D; French research network on FTD and FTD-ALS, Brice A, Marie Y, Le Ber I.

Neurobiol Aging. 2014 Dec;35(12):2882.e13-2882.e15. doi: 10.1016/j.neurobiolaging.2014.07.016. Epub 2014 Jul 18.

PMID:
25158920
12.

Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients.

Chaussenot A, Le Ber I, Ait-El-Mkadem S, Camuzat A, de Septenville A, Bannwarth S, Genin EC, Serre V, Augé G; French research network on FTD and FTD-ALS, Brice A, Pouget J, Paquis-Flucklinger V.

Neurobiol Aging. 2014 Dec;35(12):2884.e1-2884.e4. doi: 10.1016/j.neurobiolaging.2014.07.022. Epub 2014 Jul 24.

PMID:
25155093
13.

A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation.

Boutoleau-Bretonnière C, Camuzat A, Le Ber I, Bouya-Ahmed K, Guerreiro R, Deruet AL, Evrard C, Bras J, Lamy E, Auffray-Calvier E, Pallardy A, Hardy J, Brice A, Derkinderen P, Vercelletto M.

J Alzheimers Dis. 2015;43(2):625-30. doi: 10.3233/JAD-141512.

14.

Contribution of ATXN2 intermediary polyQ expansions in a spectrum of neurodegenerative disorders.

Lattante S, Millecamps S, Stevanin G, Rivaud-Péchoux S, Moigneu C, Camuzat A, Da Barroca S, Mundwiller E, Couarch P, Salachas F, Hannequin D, Meininger V, Pasquier F, Seilhean D, Couratier P, Danel-Brunaud V, Bonnet AM, Tranchant C, LeGuern E, Brice A, Le Ber I, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurology. 2014 Sep 9;83(11):990-5. doi: 10.1212/WNL.0000000000000778. Epub 2014 Aug 6.

15.

Defining the association of TMEM106B variants among frontotemporal lobar degeneration patients with GRN mutations and C9orf72 repeat expansions.

Lattante S, Le Ber I, Galimberti D, Serpente M, Rivaud-Péchoux S, Camuzat A, Clot F, Fenoglio C; French research network on FTD and FTD-ALS, Scarpini E, Brice A, Kabashi E.

Neurobiol Aging. 2014 Nov;35(11):2658.e1-2658.e5. doi: 10.1016/j.neurobiolaging.2014.06.023. Epub 2014 Jun 28.

PMID:
25085782
16.

Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.

Tezenas du Montcel S, Durr A, Bauer P, Figueroa KP, Ichikawa Y, Brussino A, Forlani S, Rakowicz M, Schöls L, Mariotti C, van de Warrenburg BP, Orsi L, Giunti P, Filla A, Szymanski S, Klockgether T, Berciano J, Pandolfo M, Boesch S, Melegh B, Timmann D, Mandich P, Camuzat A; Clinical Research Consortium for Spinocerebellar Ataxia (CRC-SCA); EUROSCA network, Goto J, Ashizawa T, Cazeneuve C, Tsuji S, Pulst SM, Brusco A, Riess O, Brice A, Stevanin G.

Brain. 2014 Sep;137(Pt 9):2444-55. doi: 10.1093/brain/awu174. Epub 2014 Jun 26.

17.

Homozygous TREM2 mutation in a family with atypical frontotemporal dementia.

Le Ber I, De Septenville A, Guerreiro R, Bras J, Camuzat A, Caroppo P, Lattante S, Couarch P, Kabashi E, Bouya-Ahmed K, Dubois B, Brice A.

Neurobiol Aging. 2014 Oct;35(10):2419.e23-2419.e25. doi: 10.1016/j.neurobiolaging.2014.04.010. Epub 2014 Apr 18.

18.

Partial deletions of the GRN gene are a cause of frontotemporal lobar degeneration.

Clot F, Rovelet-Lecrux A, Lamari F, Noël S, Keren B, Camuzat A, Michon A, Jornea L, Laudier B, de Septenville A, Caroppo P, Campion D, Cazeneuve C, Brice A, LeGuern E, Le Ber I; French clinical and genetic research network on FTLD/FTLD-ALS.

Neurogenetics. 2014 May;15(2):95-100. doi: 10.1007/s10048-014-0389-x. Epub 2014 Jan 28.

PMID:
24469240
19.

DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.

Caroppo P, Le Ber I, Clot F, Rivaud-Péchoux S, Camuzat A, De Septenville A, Boutoleau-Bretonnière C, Mourlon V, Sauvée M, Lebouvier T, Bonnet AM, Levy R, Vercelletto M, Brice A; French Clinical and Genetic Research Network on Frontotemporal Dementia/Frontotemporal Dementia–Amyotrophic Lateral Sclerosis.

JAMA Neurol. 2014 Feb;71(2):208-15. doi: 10.1001/jamaneurol.2013.5100.

20.

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A; French research Network on FTLD/FTLD-ALS.

Neurobiol Aging. 2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9.

PMID:
24119545
21.

SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.

Le Ber I, Camuzat A, Guerreiro R, Bouya-Ahmed K, Bras J, Nicolas G, Gabelle A, Didic M, De Septenville A, Millecamps S, Lenglet T, Latouche M, Kabashi E, Campion D, Hannequin D, Hardy J, Brice A; French Clinical and Genetic Research Network on FTD/FTD-ALS.

JAMA Neurol. 2013 Nov;70(11):1403-10. doi: 10.1001/jamaneurol.2013.3849.

22.

TREM2 mutations are rare in a French cohort of patients with frontotemporal dementia.

Lattante S, Le Ber I, Camuzat A, Dayan S, Godard C, Van Bortel I, De Septenville A, Ciura S, Brice A, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurobiol Aging. 2013 Oct;34(10):2443.e1-2. doi: 10.1016/j.neurobiolaging.2013.04.030. Epub 2013 Jun 4.

PMID:
23759145
23.

Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene.

Guerreiro R, Kara E, Le Ber I, Bras J, Rohrer JD, Taipa R, Lashley T, Dupuits C, Gurunlian N, Mochel F, Warren JD, Hannequin D, Sedel F, Depienne C, Camuzat A, Golfier V, Du Boisguéheneuc F, Schottlaender L, Fox NC, Beck J, Mead S, Rossor MN, Hardy J, Revesz T, Brice A, Houlden H.

JAMA Neurol. 2013 Jul;70(7):875-882. doi: 10.1001/jamaneurol.2013.698.

24.

Screening UBQLN-2 in French frontotemporal lobar degeneration and frontotemporal lobar degeneration-amyotrophic lateral sclerosis patients.

Lattante S, Le Ber I, Camuzat A, Pariente J, Brice A, Kabashi E; French Research Network on FTD and FTD-ALS.

Neurobiol Aging. 2013 Aug;34(8):2078.e5-6. doi: 10.1016/j.neurobiolaging.2013.03.002. Epub 2013 Apr 10.

PMID:
23582661
25.

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing.

Le Ber I, Camuzat A, Guillot-Noel L, Hannequin D, Lacomblez L, Golfier V, Puel M, Martinaud O, Deramecourt V, Rivaud-Pechoux S, Millecamps S, Vercelletto M, Couratier P, Sellal F, Pasquier F, Salachas F, Thomas-Antérion C, Didic M, Pariente J, Seilhean D, Ruberg M, Wargon I, Blanc F, Camu W, Michel BF, Berger E, Sauvée M, Thauvin-Robinet C, Mondon K, Tournier-Lasserve E, Goizet C, Fleury M, Viennet G, Verpillat P, Meininger V, Duyckaerts C, Dubois B, Brice A.

J Alzheimers Dis. 2013;34(2):485-99. doi: 10.3233/JAD-121456.

PMID:
23254636
26.

Mutations in the PFN1 gene are not a common cause in patients with amyotrophic lateral sclerosis and frontotemporal lobar degeneration in France.

Lattante S, Le Ber I, Camuzat A, Brice A, Kabashi E.

Neurobiol Aging. 2013 Jun;34(6):1709.e1-2. doi: 10.1016/j.neurobiolaging.2012.10.026. Epub 2012 Nov 24.

PMID:
23182804
27.

Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene.

Gras D, Jonard L, Roze E, Chantot-Bastaraud S, Koht J, Motte J, Rodriguez D, Louha M, Caubel I, Kemlin I, Lion-François L, Goizet C, Guillot L, Moutard ML, Epaud R, Héron B, Charles P, Tallot M, Camuzat A, Durr A, Polak M, Devos D, Sanlaville D, Vuillaume I, Billette de Villemeur T, Vidailhet M, Doummar D.

J Neurol Neurosurg Psychiatry. 2012 Oct;83(10):956-62. doi: 10.1136/jnnp-2012-302505. Epub 2012 Jul 24.

PMID:
22832740
28.

G303V tau mutation presenting with progressive supranuclear palsy-like features.

Choumert A, Poisson A, Honnorat J, Le Ber I, Camuzat A, Broussolle E, Thobois S.

Mov Disord. 2012 Apr;27(4):581-3. doi: 10.1002/mds.24060. Epub 2011 Nov 22. No abstract available.

PMID:
22109955
29.

FUS mutations in frontotemporal lobar degeneration with amyotrophic lateral sclerosis.

Broustal O, Camuzat A, Guillot-Noël L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A; French clinical and genetic research network on FTD/FTD-MND.

J Alzheimers Dis. 2010;22(3):765-9.

PMID:
21158017
30.

Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

Clot F, Grabli D, Burbaud P, Aya M, Derkinderen P, Defebvre L, Damier P, Krystkowiak P, Pollak P, Leguern E, San C, Camuzat A, Roze E, Vidailhet M, Durr A, Brice A.

Neurogenetics. 2011 Feb;12(1):87-9. doi: 10.1007/s10048-010-0264-3. Epub 2010 Nov 26. No abstract available.

PMID:
21110056
31.

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations.

Millecamps S, Salachas F, Cazeneuve C, Gordon P, Bricka B, Camuzat A, Guillot-Noël L, Russaouen O, Bruneteau G, Pradat PF, Le Forestier N, Vandenberghe N, Danel-Brunaud V, Guy N, Thauvin-Robinet C, Lacomblez L, Couratier P, Hannequin D, Seilhean D, Le Ber I, Corcia P, Camu W, Brice A, Rouleau G, LeGuern E, Meininger V.

J Med Genet. 2010 Aug;47(8):554-60. doi: 10.1136/jmg.2010.077180. Epub 2010 Jun 24.

32.

Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy.

Al-Chalabi A, Dürr A, Wood NW, Parkinson MH, Camuzat A, Hulot JS, Morrison KE, Renton A, Sussmuth SD, Landwehrmeyer BG, Ludolph A, Agid Y, Brice A, Leigh PN, Bensimon G; NNIPPS Genetic Study Group.

PLoS One. 2009 Sep 22;4(9):e7114. doi: 10.1371/journal.pone.0007114.

33.

Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.

Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A; French Dystonia Network.

Brain. 2009 Jul;132(Pt 7):1753-63. doi: 10.1093/brain/awp084. Epub 2009 Jun 2.

PMID:
19491146
34.

Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.

Le Ber I, Camuzat A, Berger E, Hannequin D, Laquerrière A, Golfier V, Seilhean D, Viennet G, Couratier P, Verpillat P, Heath S, Camu W, Martinaud O, Lacomblez L, Vercelletto M, Salachas F, Sellal F, Didic M, Thomas-Anterion C, Puel M, Michel BF, Besse C, Duyckaerts C, Meininger V, Campion D, Dubois B, Brice A; French Research Network on FTD/FTD-MND.

Neurology. 2009 May 12;72(19):1669-76. doi: 10.1212/WNL.0b013e3181a55f1c.

PMID:
19433740
35.

TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration.

Benajiba L, Le Ber I, Camuzat A, Lacoste M, Thomas-Anterion C, Couratier P, Legallic S, Salachas F, Hannequin D, Decousus M, Lacomblez L, Guedj E, Golfier V, Camu W, Dubois B, Campion D, Meininger V, Brice A; French Clinical and Genetic Research Network on Frontotemporal Lobar Degeneration/Frontotemporal Lobar Degeneration with Motoneuron Disease.

Ann Neurol. 2009 Apr;65(4):470-3. doi: 10.1002/ana.21612.

PMID:
19350673
36.

The PSP-associated MAPT H1 subhaplotype in Guadeloupean atypical parkinsonism.

Camuzat A, Romana M, Dürr A, Feingold J, Brice A, Ruberg M, Lannuzel A.

Mov Disord. 2008 Dec 15;23(16):2384-91. doi: 10.1002/mds.22297.

PMID:
18785640
37.

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study.

Le Ber I, Camuzat A, Hannequin D, Pasquier F, Guedj E, Rovelet-Lecrux A, Hahn-Barma V, van der Zee J, Clot F, Bakchine S, Puel M, Ghanim M, Lacomblez L, Mikol J, Deramecourt V, Lejeune P, de la Sayette V, Belliard S, Vercelletto M, Meyrignac C, Van Broeckhoven C, Lambert JC, Verpillat P, Campion D, Habert MO, Dubois B, Brice A; French research network on FTD/FTD-MND.

Brain. 2008 Mar;131(Pt 3):732-46. doi: 10.1093/brain/awn012. Epub 2008 Feb 1.

PMID:
18245784
38.

Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.

Gourfinkel-An I, Duyckaerts C, Camuzat A, Meyrignac C, Sonderegger P, Baulac M, Brice A.

Neurology. 2007 Jul 3;69(1):79-83.

PMID:
17606885
39.

Are interrupted SCA2 CAG repeat expansions responsible for parkinsonism?

Charles P, Camuzat A, Benammar N, Sellal F, Destée A, Bonnet AM, Lesage S, Le Ber I, Stevanin G, Dürr A, Brice A; French Parkinson's Disease Genetic Study Group.

Neurology. 2007 Nov 20;69(21):1970-5. Epub 2007 Jun 13.

PMID:
17568014
40.

Progranulin null mutations in both sporadic and familial frontotemporal dementia.

Le Ber I, van der Zee J, Hannequin D, Gijselinck I, Campion D, Puel M, Laquerrière A, De Pooter T, Camuzat A, Van den Broeck M, Dubois B, Sellal F, Lacomblez L, Vercelletto M, Thomas-Antérion C, Michel BF, Golfier V, Didic M, Salachas F, Duyckaerts C, Cruts M, Verpillat P, Van Broeckhoven C, Brice A; French Research Network on FTD/FTD-MND.

Hum Mutat. 2007 Sep;28(9):846-55.

PMID:
17436289
41.

Mutations other than null mutations producing a pathogenic loss of progranulin in frontotemporal dementia.

van der Zee J, Le Ber I, Maurer-Stroh S, Engelborghs S, Gijselinck I, Camuzat A, Brouwers N, Vandenberghe R, Sleegers K, Hannequin D, Dermaut B, Schymkowitz J, Campion D, Santens P, Martin JJ, Lacomblez L, De Pooter T, Peeters K, Mattheijssens M, Vercelletto M, Van den Broeck M, Cruts M, De Deyn PP, Rousseau F, Brice A, Van Broeckhoven C.

Hum Mutat. 2007 Apr;28(4):416.

PMID:
17345602
42.

Predominant dystonia with marked cerebellar atrophy: a rare phenotype in familial dystonia.

Le Ber I, Clot F, Vercueil L, Camuzat A, Viémont M, Benamar N, De Liège P, Ouvrard-Hernandez AM, Pollak P, Stevanin G, Brice A, Dürr A.

Neurology. 2006 Nov 28;67(10):1769-73.

PMID:
17130408
43.

Demographic, neurological and behavioural characteristics and brain perfusion SPECT in frontal variant of frontotemporal dementia.

Le Ber I, Guedj E, Gabelle A, Verpillat P, Volteau M, Thomas-Anterion C, Decousus M, Hannequin D, Véra P, Lacomblez L, Camuzat A, Didic M, Puel M, Lotterie JA, Golfier V, Bernard AM, Vercelletto M, Magne C, Sellal F, Namer I, Michel BF, Pasquier J, Salachas F, Bochet J; French research network on FTD/FTD-MND, Brice A, Habert MO, Dubois B.

Brain. 2006 Nov;129(Pt 11):3051-65.

PMID:
17071924
44.

Epsilon sarcoglycan mutations and phenotype in French patients with myoclonic syndromes.

Tezenas du Montcel S, Clot F, Vidailhet M, Roze E, Damier P, Jedynak CP, Camuzat A, Lagueny A, Vercueil L, Doummar D, Guyant-Maréchal L, Houeto JL, Ponsot G, Thobois S, Cournelle MA, Durr A, Durif F, Echenne B, Hannequin D, Tranchant C, Brice A; French Dystonia Network.

J Med Genet. 2006 May;43(5):394-400. Epub 2005 Oct 14.

45.

Frontotemporal dementia, motor neuron disease and tauopathy: clinical and neuropathological study in a family.

Martinaud O, Laquerrière A, Guyant-Maréchal L, Ahtoy P, Vera P, Sergeant N, Camuzat A, Bourgeois P, Hauw JJ, Campion D, Hannequin D.

Acta Neuropathol. 2005 Jul;110(1):84-92. Epub 2005 Jun 17.

PMID:
15965697
46.

Age at onset variance analysis in spinocerebellar ataxias: a study in a Dutch-French cohort.

van de Warrenburg BP, Hendriks H, Dürr A, van Zuijlen MC, Stevanin G, Camuzat A, Sinke RJ, Brice A, Kremer BP.

Ann Neurol. 2005 Apr;57(4):505-12.

PMID:
15747371
47.

Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.

Dürr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A.

Arch Neurol. 2004 Dec;61(12):1867-72.

PMID:
15596607
48.

Prevalence of dentatorubral-pallidoluysian atrophy in a large series of white patients with cerebellar ataxia.

Le Ber I, Camuzat A, Castelnovo G, Azulay JP, Genton P, Gastaut JL, Broglin D, Labauge P, Brice A, Durr A.

Arch Neurol. 2003 Aug;60(8):1097-9.

PMID:
12925365
49.

Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.

Stevanin G, Fujigasaki H, Lebre AS, Camuzat A, Jeannequin C, Dode C, Takahashi J, San C, Bellance R, Brice A, Durr A.

Brain. 2003 Jul;126(Pt 7):1599-603. Epub 2003 May 6.

PMID:
12805114
50.

Is the saitohin gene involved in neurodegenerative diseases?

Verpillat P, Ricard S, Hannequin D, Dubois B, Bou J, Camuzat A, Pradier L, Frebourg T, Brice A, Clerget-Darpoux F, Deleuze JF, Campion D; French Study Group on Alzheimer's Disease and Frontotemporal Dementia.

Ann Neurol. 2002 Dec;52(6):829-32.

PMID:
12447938

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