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Items: 1 to 20 of 31

1.

G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome.

Lesage S, Anheim M, Letournel F, Bousset L, Honoré A, Rozas N, Pieri L, Madiona K, Dürr A, Melki R, Verny C, Brice A; French Parkinson's Disease Genetics Study Group.

Ann Neurol. 2013 Apr;73(4):459-71. doi: 10.1002/ana.23894.

PMID:
23526723
2.

C9orf72 repeat expansions are a rare genetic cause of parkinsonism.

Lesage S, Le Ber I, Condroyer C, Broussolle E, Gabelle A, Thobois S, Pasquier F, Mondon K, Dion PA, Rochefort D, Rouleau GA, Dürr A, Brice A; French Parkinson’s Disease Genetics Study Group.

Brain. 2013 Feb;136(Pt 2):385-91. doi: 10.1093/brain/aws357.

3.

The Val158Met COMT polymorphism is a modifier of the age at onset in Parkinson's disease with a sexual dimorphism.

Klebe S, Golmard JL, Nalls MA, Saad M, Singleton AB, Bras JM, Hardy J, Simon-Sanchez J, Heutink P, Kuhlenbäumer G, Charfi R, Klein C, Hagenah J, Gasser T, Wurster I, Lesage S, Lorenz D, Deuschl G, Durif F, Pollak P, Damier P, Tison F, Durr A, Amouyel P, Lambert JC, Tzourio C, Maubaret C, Charbonnier-Beaupel F, Tahiri K, Vidailhet M, Martinez M, Brice A, Corvol JC; French Parkinson's Disease Genetics Study Group; International Parkinson's Disease Genomics Consortium (IPDGC).

J Neurol Neurosurg Psychiatry. 2013 Jun;84(6):666-73. doi: 10.1136/jnnp-2012-304475. Epub 2013 Feb 13.

4.

EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?

Lesage S, Condroyer C, Klebe S, Lohmann E, Durif F, Damier P, Tison F, Anheim M, Honoré A, Viallet F, Bonnet AM, Ouvrard-Hernandez AM, Vidailhet M, Durr A, Brice A; French Parkinson's Disease Genetics Study Group.

Neurobiol Aging. 2012 Sep;33(9):2233.e1-2233.e5. doi: 10.1016/j.neurobiolaging.2012.05.006. Epub 2012 Jun 1.

PMID:
22658323
5.

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Lesage S, Condroyer C, Klebe S, Honoré A, Tison F, Brefel-Courbon C, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Neurology. 2012 May 1;78(18):1449-50. doi: 10.1212/WNL.0b013e318253d5f2. Epub 2012 Apr 18. No abstract available.

PMID:
22517097
6.

Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population.

Saad M, Lesage S, Saint-Pierre A, Corvol JC, Zelenika D, Lambert JC, Vidailhet M, Mellick GD, Lohmann E, Durif F, Pollak P, Damier P, Tison F, Silburn PA, Tzourio C, Forlani S, Loriot MA, Giroud M, Helmer C, Portet F, Amouyel P, Lathrop M, Elbaz A, Durr A, Martinez M, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2011 Feb 1;20(3):615-27. doi: 10.1093/hmg/ddq497. Epub 2010 Nov 17.

7.

Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease.

Lesage S, Anheim M, Condroyer C, Pollak P, Durif F, Dupuits C, Viallet F, Lohmann E, Corvol JC, Honoré A, Rivaud S, Vidailhet M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2011 Jan 1;20(1):202-10. doi: 10.1093/hmg/ddq454. Epub 2010 Oct 14.

8.

Parkinson's disease-related LRRK2 G2019S mutation results from independent mutational events in humans.

Lesage S, Patin E, Condroyer C, Leutenegger AL, Lohmann E, Giladi N, Bar-Shira A, Belarbi S, Hecham N, Pollak P, Ouvrard-Hernandez AM, Bardien S, Carr J, Benhassine T, Tomiyama H, Pirkevi C, Hamadouche T, Cazeneuve C, Basak AN, Hattori N, Dürr A, Tazir M, Orr-Urtreger A, Quintana-Murci L, Brice A; French Parkinson's Disease Genetics Study Group.

Hum Mol Genet. 2010 May 15;19(10):1998-2004. doi: 10.1093/hmg/ddq081. Epub 2010 Mar 2.

9.

A multitracer dopaminergic PET study of young-onset parkinsonian patients with and without parkin gene mutations.

Ribeiro MJ, Thobois S, Lohmann E, du Montcel ST, Lesage S, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Broussolle E, Brice A, Remy P; French Parkinson's Disease Genetics Study Group.

J Nucl Med. 2009 Aug;50(8):1244-50. doi: 10.2967/jnumed.109.063529. Epub 2009 Jul 17.

10.

Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease.

Lesage S, Condroyer C, Lannuzel A, Lohmann E, Troiano A, Tison F, Damier P, Thobois S, Ouvrard-Hernandez AM, Rivaud-Péchoux S, Brefel-Courbon C, Destée A, Tranchant C, Romana M, Leclere L, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

J Med Genet. 2009 Jul;46(7):458-64. doi: 10.1136/jmg.2008.062612. Epub 2009 Apr 8.

PMID:
19357115
11.

Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.

Ibáñez P, Lesage S, Janin S, Lohmann E, Durif F, Destée A, Bonnet AM, Brefel-Courbon C, Heath S, Zelenika D, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Arch Neurol. 2009 Jan;66(1):102-8. doi: 10.1001/archneurol.2008.555.

PMID:
19139307
12.

A multidisciplinary study of patients with early-onset PD with and without parkin mutations.

Lohmann E, Thobois S, Lesage S, Broussolle E, du Montcel ST, Ribeiro MJ, Remy P, Pelissolo A, Dubois B, Mallet L, Pollak P, Agid Y, Brice A; French Parkinson's Disease Genetics Study Group.

Neurology. 2009 Jan 13;72(2):110-6. doi: 10.1212/01.wnl.0000327098.86861.d4. Epub 2008 Nov 5.

13.

Is the common LRRK2 G2019S mutation related to dyskinesias in North African Parkinson disease?

Lesage S, Belarbi S, Troiano A, Condroyer C, Hecham N, Pollak P, Lohman E, Benhassine T, Ysmail-Dahlouk F, Dürr A, Tazir M, Brice A; French Parkinson's Disease Genetics Study Group.

Neurology. 2008 Nov 4;71(19):1550-2. doi: 10.1212/01.wnl.0000338460.89796.06. No abstract available.

PMID:
18981379
14.

A clinical, neuropsychological and olfactory evaluation of a large family with LRRK2 mutations.

Lohmann E, Leclere L, De Anna F, Lesage S, Dubois B, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Parkinsonism Relat Disord. 2009 May;15(4):273-6. doi: 10.1016/j.parkreldis.2008.06.008. Epub 2008 Aug 21.

PMID:
18718805
15.

Are parkin patients particularly suited for deep-brain stimulation?

Lohmann E, Welter ML, Fraix V, Krack P, Lesage S, Laine S, Tanguy ML, Houeto JL, Mesnage V, Pollak P, Durr A, Agid Y, Brice A; French Parkinson's Disease Genetics study group.

Mov Disord. 2008 Apr 15;23(5):740-3. doi: 10.1002/mds.21903.

PMID:
18228569
16.

Rare heterozygous parkin variants in French early-onset Parkinson disease patients and controls.

Lesage S, Lohmann E, Tison F, Durif F, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

J Med Genet. 2008 Jan;45(1):43-6. Epub 2007 Aug 31.

PMID:
17766365
17.

Frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease.

Lesage S, Leclere L, Lohmann E, Borg M, Ruberg M, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Neurodegener Dis. 2007;4(2-3):195-8.

PMID:
17596714
18.

LRRK2 exon 41 mutations in sporadic Parkinson disease in Europeans.

Lesage S, Janin S, Lohmann E, Leutenegger AL, Leclere L, Viallet F, Pollak P, Durif F, Thobois S, Layet V, Vidailhet M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group, Bonnet AM, Borg M, Broussolle E, Damier P, Destée A, Martinez M, Penet C, Rasco O, Tison F, Tranchan C, Vérin M.

Arch Neurol. 2007 Mar;64(3):425-30.

PMID:
17353388
19.

LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs.

Lesage S, Dürr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P, Brice A; French Parkinson's Disease Genetics Study Group.

N Engl J Med. 2006 Jan 26;354(4):422-3. No abstract available.

20.

Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa.

Ibáñez P, Lesage S, Lohmann E, Thobois S, De Michele G, Borg M, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.

Brain. 2006 Mar;129(Pt 3):686-94. Epub 2006 Jan 9.

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