Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 20 of 49

1.

Cardiac Abnormalities in Type 1 Facioscapulohumeral Muscular Dystrophy.

Labombarda F, Maurice M, Simon JP, Legallois D, Guyant-Maréchal L, Bedat-Millet AL, Merle P, Saloux E, Chapon F, Milliez P.

J Clin Neuromuscul Dis. 2017 Jun;18(4):199-206. doi: 10.1097/CND.0000000000000144.

PMID:
28538250
2.

17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Ströbel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Génin E, Guyant-Maréchal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A.

Mol Psychiatry. 2016 Dec 13. doi: 10.1038/mp.2016.226. [Epub ahead of print]

PMID:
27956742
3.

Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.

Noury JB, Böhm J, Peche GA, Guyant-Marechal L, Bedat-Millet AL, Chiche L, Carlier RY, Malfatti E, Romero NB, Stojkovic T.

Neuromuscul Disord. 2017 Jan;27(1):78-82. doi: 10.1016/j.nmd.2016.10.006. Epub 2016 Oct 14.

PMID:
27876257
4.

The wide POLG-related spectrum: An integrated view.

Béreau M, Anheim M, Echaniz-Laguna A, Magot A, Verny C, Goideau-Sevrain M, Barth M, Amati-Bonneau P, Allouche S, Ayrignac X, Bédat-Millet AL, Guyant-Maréchal L, Kuntzer T, Ochsner F, Petiot P, Vial C, Omer S, Sole G, Taieb G, Carvalho N, Tio G, Kremer S, Acquaviva-Bourdain C, de Camaret BM, Tranchant C.

J Neurol Sci. 2016 Sep 15;368:70-6. doi: 10.1016/j.jns.2016.06.062. Epub 2016 Jun 29. No abstract available.

PMID:
27538604
5.

Clinical and electroencephalographic abnormalities during the full duration of a sporadic hemiplegic migraine attack.

Chastan N, Lebas A, Legoff F, Parain D, Guyant-Marechal L.

Neurophysiol Clin. 2016 Nov;46(4-5):307-311. doi: 10.1016/j.neucli.2016.03.004. Epub 2016 May 5.

PMID:
27155821
6.

Familial intracranial aneurysm, the relationship of the aortic diameter.

Verdure P, Gilard V, Guyant-Maréchal L, Belien J, Cebula H, Hannequin D, Dacher JN, Johannides R, Proust F.

Neurochirurgie. 2015 Dec;61(6):385-91. doi: 10.1016/j.neuchi.2015.08.001. Epub 2015 Nov 17.

PMID:
26597604
7.

Delayed-onset Friedreich's ataxia revisited.

Lecocq C, Charles P, Azulay JP, Meissner W, Rai M, N'Guyen K, Péréon Y, Fabre N, Robin E, Courtois S, Guyant-Maréchal L, Zagnoli F, Rudolf G, Renaud M, Sévin-Allouet M, Lesne F, Alaerts N, Goizet C, Calvas P, Eusebio A, Guissart C, Derkinderen P, Tison F, Brice A, Koenig M, Pandolfo M, Tranchant C, Dürr A, Anheim M.

Mov Disord. 2016 Jan;31(1):62-9. doi: 10.1002/mds.26382. Epub 2015 Sep 21.

PMID:
26388117
8.

New practical definitions for the diagnosis of autosomal recessive spastic ataxia of Charlevoix-Saguenay.

Pilliod J, Moutton S, Lavie J, Maurat E, Hubert C, Bellance N, Anheim M, Forlani S, Mochel F, N'Guyen K, Thauvin-Robinet C, Verny C, Milea D, Lesca G, Koenig M, Rodriguez D, Houcinat N, Van-Gils J, Durand CM, Guichet A, Barth M, Bonneau D, Convers P, Maillart E, Guyant-Marechal L, Hannequin D, Fromager G, Afenjar A, Chantot-Bastaraud S, Valence S, Charles P, Berquin P, Rooryck C, Bouron J, Brice A, Lacombe D, Rossignol R, Stevanin G, Benard G, Burglen L, Durr A, Goizet C, Coupry I.

Ann Neurol. 2015 Dec;78(6):871-86. doi: 10.1002/ana.24509. Epub 2015 Nov 14.

PMID:
26288984
9.

Screening of dementia genes by whole-exome sequencing in early-onset Alzheimer disease: input and lessons.

Nicolas G, Wallon D, Charbonnier C, Quenez O, Rousseau S, Richard AC, Rovelet-Lecrux A, Coutant S, Le Guennec K, Bacq D, Garnier JG, Olaso R, Boland A, Meyer V, Deleuze JF, Munter HM, Bourque G, Auld D, Montpetit A, Lathrop M, Guyant-Maréchal L, Martinaud O, Pariente J, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Sauvée M, Moreaud O, Gabelle A, Sellal F, Ceccaldi M, Chamard L, Blanc F, Frebourg T, Campion D, Hannequin D.

Eur J Hum Genet. 2016 May;24(5):710-6. doi: 10.1038/ejhg.2015.173. Epub 2015 Aug 5.

10.

Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease.

Verdura E, Hervé D, Scharrer E, Amador Mdel M, Guyant-Maréchal L, Philippi A, Corlobé A, Bergametti F, Gazal S, Prieto-Morin C, Beaufort N, Le Bail B, Viakhireva I, Dichgans M, Chabriat H, Haffner C, Tournier-Lasserve E.

Brain. 2015 Aug;138(Pt 8):2347-58. doi: 10.1093/brain/awv155. Epub 2015 Jun 10.

PMID:
26063658
11.

Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.

Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson JB, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche JP, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud DA, Ouallet JC, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Maréchal L, Derache N, Defer GL, Moreau T, Giroud M, Guennoc AM, Clavelou P, Taithe F, Mathis S, Neau JP, Magy L, Devoize JL, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Boespflug Tanguy O, Labauge P.

Brain. 2015 Feb;138(Pt 2):284-92. doi: 10.1093/brain/awu353. Epub 2014 Dec 19.

PMID:
25527826
12.

Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Charbonnier C, Guyant-Maréchal L, Le Ber I, Pariente J, Labauge P, Ayrignac X, Defebvre L, Maltête D, Martinaud O, Lefaucheur R, Guillin O, Wallon D, Chaumette B, Rondepierre P, Derache N, Fromager G, Schaeffer S, Krystkowiak P, Verny C, Jurici S, Sauvée M, Vérin M, Lebouvier T, Rouaud O, Thauvin-Robinet C, Rousseau S, Rovelet-Lecrux A, Frebourg T, Campion D, Hannequin D; French IBGC Study Group..

Brain. 2013 Nov;136(Pt 11):3395-407. doi: 10.1093/brain/awt255. Epub 2013 Sep 24.

PMID:
24065723
13.

Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification.

Nicolas G, Pottier C, Maltête D, Coutant S, Rovelet-Lecrux A, Legallic S, Rousseau S, Vaschalde Y, Guyant-Maréchal L, Augustin J, Martinaud O, Defebvre L, Krystkowiak P, Pariente J, Clanet M, Labauge P, Ayrignac X, Lefaucheur R, Le Ber I, Frébourg T, Hannequin D, Campion D.

Neurology. 2013 Jan 8;80(2):181-7. doi: 10.1212/WNL.0b013e31827ccf34. Epub 2012 Dec 19.

PMID:
23255827
14.

PRRT2 mutations cause hemiplegic migraine.

Riant F, Roze E, Barbance C, Méneret A, Guyant-Maréchal L, Lucas C, Sabouraud P, Trébuchon A, Depienne C, Tournier-Lasserve E.

Neurology. 2012 Nov 20;79(21):2122-4. doi: 10.1212/WNL.0b013e3182752cb8. Epub 2012 Oct 17.

PMID:
23077016
15.

FXTAS: new insights and the need for revised diagnostic criteria.

Apartis E, Blancher A, Meissner WG, Guyant-Maréchal L, Maltête D, De Broucker T, Legrand AP, Bouzenada H, Thanh HT, Sallansonnet-Froment M, Wang A, Tison F, Roué-Jagot C, Sedel F, Charles P, Whalen S, Héron D, Thobois S, Poisson A, Lesca G, Ouvrard-Hernandez AM, Fraix V, Palfi S, Habert MO, Gaymard B, Dussaule JC, Pollak P, Vidailhet M, Durr A, Barbot JC, Gourlet V, Brice A, Anheim M.

Neurology. 2012 Oct 30;79(18):1898-907. doi: 10.1212/WNL.0b013e318271f7ff. Epub 2012 Oct 17.

PMID:
23077007
16.

Chorea in an 83-year-old woman: don't forget Huntington's disease.

Lefaucheur R, Guyant-Maréchal L, Wallon D, Nicolas G, Borden A, Maltête D, Tollard E.

J Am Geriatr Soc. 2012 May;60(5):983-4. doi: 10.1111/j.1532-5415.2012.03912.x. No abstract available.

PMID:
22587859
17.

Factors influencing disease progression in autosomal dominant cerebellar ataxia and spastic paraplegia.

Tezenas du Montcel S, Charles P, Goizet C, Marelli C, Ribai P, Vincitorio C, Anheim M, Guyant-Maréchal L, Le Bayon A, Vandenberghe N, Tchikviladzé M, Devos D, Le Ber I, N'Guyen K, Cazeneuve C, Tallaksen C, Brice A, Durr A.

Arch Neurol. 2012 Apr;69(4):500-8. doi: 10.1001/archneurol.2011.2713.

PMID:
22491195
18.

The French series of autosomal dominant early onset Alzheimer's disease cases: mutation spectrum and cerebrospinal fluid biomarkers.

Wallon D, Rousseau S, Rovelet-Lecrux A, Quillard-Muraine M, Guyant-Maréchal L, Martinaud O, Pariente J, Puel M, Rollin-Sillaire A, Pasquier F, Le Ber I, Sarazin M, Croisile B, Boutoleau-Bretonnière C, Thomas-Antérion C, Paquet C, Moreaud O, Gabelle A, Sellal F, Sauvée M, Laquerrière A, Duyckaerts C, Delisle MB, Streichenberger N, Lannes B, Frebourg T, Hannequin D, Campion D; collaborators of GMAJ project..

J Alzheimers Dis. 2012;30(4):847-56. doi: 10.3233/JAD-2012-120172.

PMID:
22475797
19.

High frequency of potentially pathogenic SORL1 mutations in autosomal dominant early-onset Alzheimer disease.

Pottier C, Hannequin D, Coutant S, Rovelet-Lecrux A, Wallon D, Rousseau S, Legallic S, Paquet C, Bombois S, Pariente J, Thomas-Anterion C, Michon A, Croisile B, Etcharry-Bouyx F, Berr C, Dartigues JF, Amouyel P, Dauchel H, Boutoleau-Bretonnière C, Thauvin C, Frebourg T, Lambert JC, Campion D; PHRC GMAJ Collaborators..

Mol Psychiatry. 2012 Sep;17(9):875-9. doi: 10.1038/mp.2012.15. Epub 2012 Apr 3.

PMID:
22472873
20.

Increased cerebrospinal fluid levels of double-stranded RNA-dependant protein kinase in Alzheimer's disease.

Mouton-Liger F, Paquet C, Dumurgier J, Lapalus P, Gray F, Laplanche JL, Hugon J; Groupe d'Investigation du Liquide Céphalorachidien Study Network..

Biol Psychiatry. 2012 May 1;71(9):829-35. doi: 10.1016/j.biopsych.2011.11.031. Epub 2012 Jan 26.

PMID:
22281122

Supplemental Content

Loading ...
Support Center