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Items: 41

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.

Mutation in the GCH1 gene with dopa-responsive dystonia and phenotypic variability.

Krim E, Aupy J, Clot F, Bonnan M, Burbaud P, Guehl D.

Neurol Genet. 2018 Mar 22;4(2):e231. doi: 10.1212/NXG.0000000000000231. eCollection 2018 Apr. No abstract available.

3.

An in-frame deletion in BICD2 associated with a non-progressive form of SMALED.

Trimouille A, Obre É, Banneau G, Durr A, Stevanin G, Clot F, Pennamen P, Perez JT, Bailly-Scappaticci C, Rouanet M, Delleci C, Sole G, Mathis S, Goizet C.

Clin Neurol Neurosurg. 2018 Mar;166:1-3. doi: 10.1016/j.clineuro.2018.01.013. Epub 2018 Jan 30. No abstract available.

PMID:
29353221
4.

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.

5.

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.

6.

A randomized, controlled, double-blind, crossover trial of zonisamide in myoclonus-dystonia.

Hainque E, Vidailhet M, Cozic N, Charbonnier-Beaupel F, Thobois S, Tranchant C, Brochard V, Glibert G, Drapier S, Mutez E, Doe De Maindreville A, Lebouvier T, Hubsch C, Degos B, Bonnet C, Grabli D, Legrand AP, Méneret A, Azulay JP, Bissery A, Zahr N, Clot F, Mallet A, Dupont S, Apartis E, Corvol JC, Roze E.

Neurology. 2016 May 3;86(18):1729-35. doi: 10.1212/WNL.0000000000002631. Epub 2016 Apr 6.

PMID:
27053715
7.

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
8.

Combined Sepiapterin Reductase and Methylmalonyl-CoA Epimerase Deficiency in a Second Patient: Cerebrospinal Fluid Polyunsaturated Fatty Acid Level and Follow-Up Under L-DOPA, 5-HTP and BH4 Trials.

Mazzuca M, Maubert MA, Damaj L, Clot F, Cadoudal M, Dubourg C, Odent S, Benoit JF, Bahi-Buisson N, Christa L, de Lonlay P.

JIMD Rep. 2015;22:47-55. doi: 10.1007/8904_2015_410. Epub 2015 Mar 13.

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.

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
12.

A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies.

Moutton S, Fergelot P, Trocello JM, Plante-Bordeneuve V, Houcinat N, Wenisch E, Larue V, Brugières P, Clot F, Lacombe D, Arveiler B, Goizet C.

Parkinsonism Relat Disord. 2014 Aug;20(8):935-7. doi: 10.1016/j.parkreldis.2014.04.026. Epub 2014 May 9. No abstract available.

PMID:
24907184
13.

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
14.

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.

15.

Clinical, neuropathological, and biochemical characterization of the novel tau mutation P332S.

Deramecourt V, Lebert F, Maurage CA, Fernandez-Gomez FJ, Dujardin S, Colin M, Sergeant N, Buée-Scherrer V, Clot F, Ber IL, Brice A, Pasquier F, Buée L.

J Alzheimers Dis. 2012;31(4):741-9. doi: 10.3233/JAD-2012-120160.

PMID:
22699846
16.

Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to ε-sarcoglycan mutations: a pilot study.

Azoulay-Zyss J, Roze E, Welter ML, Navarro S, Yelnik J, Clot F, Bardinet E, Karachi C, Dormont D, Galanaud D, Pidoux B, Cornu P, Vidailhet M, Grabli D.

Arch Neurol. 2011 Jan;68(1):94-8. doi: 10.1001/archneurol.2010.338.

PMID:
21220679
17.

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
18.

Sleep and rhythm consequences of a genetically induced loss of serotonin.

Leu-Semenescu S, Arnulf I, Decaix C, Moussa F, Clot F, Boniol C, Touitou Y, Levy R, Vidailhet M, Roze E.

Sleep. 2010 Mar;33(3):307-14.

19.

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
20.

The p.Asp216His TOR1A allele effect is not found in the French population.

Frédéric MY, Clot F, Blanchard A, Dhaenens CM, Lesca G, Cif L, Dürr A, Vidailhet M, Sablonniere B, Calender A, Martinez M, Molinari N, Brice A, Claustres M, Tuffery-Giraud S, Collod-Beroud G.

Mov Disord. 2009 Apr 30;24(6):919-21. doi: 10.1002/mds.22407.

21.

Infantile hypokinetic-hypotonic syndrome due to two novel mutations of the tyrosine hydroxylase gene.

Doummar D, Clot F, Vidailhet M, Afenjar A, Durr A, Brice A, Mignot C, Guet A, de Villemeur TB, Rodriguez D.

Mov Disord. 2009 Apr 30;24(6):943-5. doi: 10.1002/mds.22455. No abstract available.

PMID:
19224593
22.

Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA).

Mochel F, Sedel F, Vanderver A, Engelke UF, Barritault J, Yang BZ, Kulkarni B, Adams DR, Clot F, Ding JH, Kaneski CR, Verheijen FW, Smits BW, Seguin F, Brice A, Vanier MT, Huizing M, Schiffmann R, Durr A, Wevers RA.

Brain. 2009 Mar;132(Pt 3):801-9. doi: 10.1093/brain/awn355. Epub 2009 Jan 19.

23.

Myoclonus-dystonia: an update.

Kinugawa K, Vidailhet M, Clot F, Apartis E, Grabli D, Roze E.

Mov Disord. 2009 Mar 15;24(4):479-89. doi: 10.1002/mds.22425. Review.

PMID:
19117361
24.

[123I]-FP-CIT and [99mTc]-HMPAO single photon emission computed tomography in a new sporadic case of rapid-onset dystonia-parkinsonism.

Zanotti-Fregonara P, Vidailhet M, Kas A, Ozelius LJ, Clot F, Hindié E, Ravasi L, Devaux JY, Roze E.

J Neurol Sci. 2008 Oct 15;273(1-2):148-51. doi: 10.1016/j.jns.2008.06.033. Epub 2008 Aug 3.

PMID:
18675996
25.

Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations.

Roze E, Apartis E, Clot F, Dorison N, Thobois S, Guyant-Marechal L, Tranchant C, Damier P, Doummar D, Bahi-Buisson N, André-Obadia N, Maltete D, Echaniz-Laguna A, Pereon Y, Beaugendre Y, Dupont S, De Greslan T, Jedynak CP, Ponsot G, Dussaule JC, Brice A, Dürr A, Vidailhet M.

Neurology. 2008 Mar 25;70(13):1010-6. doi: 10.1212/01.wnl.0000297516.98574.c0.

PMID:
18362280
26.

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Frédéric MY, Clot F, Cif L, Blanchard A, Dürr A, Vuillaume I, Lesca G, Kreisler A, Davin C, Besnard T, Rousset F, Thorel D, Saquet C, Mechin D, Ozelius L, Agid Y, Barroso B, Chabrol B, Chan V, Clanet M, Coubes C, Destee A, Nguyen K, Vial C, Vidailhet M, Xie J, Sablonniere B, Calender A, Brice A, Roubertie A, Coubes P, Claustres M, Tuffery-Giraud S, Collod-Beroud G.

Neurogenetics. 2008 May;9(2):143-50. doi: 10.1007/s10048-008-0123-7. Epub 2008 Mar 6.

27.

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
28.

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
29.

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.

30.

HLA-DQ relative risks for coeliac disease in European populations: a study of the European Genetics Cluster on Coeliac Disease.

Margaritte-Jeannin P, Babron MC, Bourgey M, Louka AS, Clot F, Percopo S, Coto I, Hugot JP, Ascher H, Sollid LM, Greco L, Clerget-Darpoux F.

Tissue Antigens. 2004 Jun;63(6):562-7.

PMID:
15140032
31.

Candidate gene region 2q33 in European families with coeliac disease.

Holopainen P, Naluai AT, Moodie S, Percopo S, Coto I, Clot F, Ascher H, Sollid L, Ciclitira P, Greco L, Clerget-Darpoux F, Partanen J; Members of the European Genetics Cluster on Coeliac Disease.

Tissue Antigens. 2004 Mar;63(3):212-22.

PMID:
14989710
32.

HLA types in celiac disease patients not carrying the DQA1*05-DQB1*02 (DQ2) heterodimer: results from the European Genetics Cluster on Celiac Disease.

Karell K, Louka AS, Moodie SJ, Ascher H, Clot F, Greco L, Ciclitira PJ, Sollid LM, Partanen J; European Genetics Cluster on Celiac Disease.

Hum Immunol. 2003 Apr;64(4):469-77.

PMID:
12651074
33.

Existence of a genetic risk factor on chromosome 5q in Italian coeliac disease families.

Greco L, Babron MC, Corazza GR, Percopo S, Sica R, Clot F, Fulchignoni-Lataud MC, Zavattari P, Momigliano-Richiardi P, Casari G, Gasparini P, Tosi R, Mantovani V, De Virgiliis S, Iacono G, D'Alfonso A, Selinger-Leneman H, Lemainque A, Serre JL, Clerget-Darpoux F.

Ann Hum Genet. 2001 Jan;65(Pt 1):35-41.

PMID:
11415521
34.

Genetics of celiac disease.

Clot F, Babron MC.

Mol Genet Metab. 2000 Sep-Oct;71(1-2):76-80. Review.

PMID:
11001799
35.

Study of two ectopeptidases in the susceptibility to celiac disease: two newly identified polymorphisms of dipeptidylpeptidase IV.

Clot F, Babron MC, Percopo S, Giordano M, Bouguerra F, Clerget-Darpoux F, Greco L, Serre JL, Fulchignoni-Lataud MC.

J Pediatr Gastroenterol Nutr. 2000 Apr;30(4):464-6. No abstract available.

PMID:
10776965
36.

Linkage disequilibrium between intra-locus variants in the aminopeptidase n gene and test of their association with coeliac disease.

Giordano M, Bolognesi E, D'Alfonso S, Lessi M, Zavattari P, Oderda G, Clot F, Percopo S, Casari G, Greco L, Tosi R, Momigliano-Richiardi P.

Ann Hum Genet. 1999 May;63(Pt 3):207-15.

PMID:
10738533
37.

Linkage and association study of the CTLA-4 region in coeliac disease for Italian and Tunisian populations.

Clot F, Fulchignoni-Lataud MC, Renoux C, Percopo S, Bouguerra F, Babron MC, Djilali-Saiah I, Caillat-Zucman S, Clerget-Darpoux F, Greco L, Serre JL.

Tissue Antigens. 1999 Nov;54(5):527-30.

PMID:
10599894
38.

HLA-DR53 molecules are associated with susceptibility to celiac disease and selectively bind gliadin-derived peptides.

Clot F, Gianfrani C, Babron MC, Bouguerra F, Southwood S, Kagnoff MF, Troncone R, Percopo S, Eliaou JF, Clerget-Darpoux F, Sette A, Greco L.

Immunogenetics. 1999 Aug;49(9):800-7.

PMID:
10398807
39.

Genome search in celiac disease.

Greco L, Corazza G, Babron MC, Clot F, Fulchignoni-Lataud MC, Percopo S, Zavattari P, Bouguerra F, Dib C, Tosi R, Troncone R, Ventura A, Mantavoni W, Magazzù G, Gatti R, Lazzari R, Giunta A, Perri F, Iacono G, Cardi E, de Virgiliis S, Cataldo F, De Angelis G, Musumeci S, Clerget-Darpoux F, et al.

Am J Hum Genet. 1998 Mar;62(3):669-75.

40.

Lack of correlation between genotype and phenotype in celiac disease.

Greco L, Percopo S, Clot F, Bouguerra F, Babron MC, Eliaou JF, Franzese C, Troncone R, Clerget-Darpoux F.

J Pediatr Gastroenterol Nutr. 1998 Mar;26(3):286-90.

PMID:
9523863
41.

A polymorphic poly-A sequence in the 5' region of the aldosynthase (CYP11B2) gene may be useful in genetic diagnosis of 11 beta-hydroxylase genes defects.

Clot F, Jager M, Simon-Bouy B, Serre JL, Aupetit-Faisant B, Mornet E.

Hum Genet. 1994 Sep;94(3):316-7. No abstract available.

PMID:
8076952

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