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Items: 17

1.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S.

Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.

PMID:
29656859
2.

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia.

Marelli C, Hamel C, Quiles M, Carlander B, Larrieu L, Delettre C, Sarzi E, Chretien D, Rustin P, Koenig M, Guissart C.

Neurol Genet. 2018 Mar 20;4(2):e225. doi: 10.1212/NXG.0000000000000225. eCollection 2018 Apr. No abstract available.

3.

AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?

Roubertie A, Hieu N, Roux CJ, Leboucq N, Manes G, Charif M, Echenne B, Goizet C, Guissart C, Meyer P, Marelli C, Rivier F, Burglen L, Horvath R, Hamel CP, Lenaers G.

Neurol Genet. 2018 Jan 24;4(1):e217. doi: 10.1212/NXG.0000000000000217. eCollection 2018 Feb.

4.

Clinical, Biomarker, and Molecular Delineations and Genotype-Phenotype Correlations of Ataxia With Oculomotor Apraxia Type 1.

Renaud M, Moreira MC, Ben Monga B, Rodriguez D, Debs R, Charles P, Chaouch M, Ferrat F, Laurencin C, Vercueil L, Mallaret M, M'Zahem A, Pacha LA, Tazir M, Tilikete C, Ollagnon E, Ochsner F, Kuntzer T, Jung HH, Beis JM, Netter JC, Djamshidian A, Bower M, Bottani A, Walsh R, Murphy S, Reiley T, Bieth É, Roelens F, Poll-The BT, Lourenço CM, Jardim LB, Straussberg R, Landrieu P, Roze E, Thobois S, Pouget J, Guissart C, Goizet C, Dürr A, Tranchant C, Koenig M, Anheim M.

JAMA Neurol. 2018 Apr 1;75(4):495-502. doi: 10.1001/jamaneurol.2017.4373.

PMID:
29356829
5.

Plasma oxysterols: biomarkers for diagnosis and treatment in spastic paraplegia type 5.

Marelli C, Lamari F, Rainteau D, Lafourcade A, Banneau G, Humbert L, Monin ML, Petit E, Debs R, Castelnovo G, Ollagnon E, Lavie J, Pilliod J, Coupry I, Babin PJ, Guissart C, Benyounes I, Ullmann U, Lesca G, Thauvin-Robinet C, Labauge P, Odent S, Ewenczyk C, Wolf C, Stevanin G, Hajage D, Durr A, Goizet C, Mochel F.

Brain. 2018 Jan 1;141(1):72-84. doi: 10.1093/brain/awx297.

PMID:
29228183
6.

Xeroderma pigmentosum complementation group F: A rare cause of cerebellar ataxia with chorea.

Carré G, Marelli C, Anheim M, Geny C, Renaud M, Rezvani HR, Koenig M, Guissart C, Tranchant C.

J Neurol Sci. 2017 May 15;376:198-201. doi: 10.1016/j.jns.2017.03.021. Epub 2017 Mar 16.

PMID:
28431612
7.

SCA13 causes dominantly inherited non-progressive myoclonus ataxia.

Montaut S, Apartis E, Chanson JB, Ewenczyk C, Renaud M, Guissart C, Muller J, Legrand AP, Durr A, Laugel V, Koenig M, Tranchant C, Anheim M.

Parkinsonism Relat Disord. 2017 May;38:80-84. doi: 10.1016/j.parkreldis.2017.02.012. Epub 2017 Feb 11.

PMID:
28216058
8.

Non-invasive prenatal diagnosis (NIPD) of cystic fibrosis: an optimized protocol using MEMO fluorescent PCR to detect the p.Phe508del mutation.

Guissart C, Dubucs C, Raynal C, Girardet A, Tran Mau Them F, Debant V, Rouzier C, Boureau-Wirth A, Haquet E, Puechberty J, Bieth E, Dupin Deguine D, Khau Van Kien P, Brechard MP, Pritchard V, Koenig M, Claustres M, Vincent MC.

J Cyst Fibros. 2017 Mar;16(2):198-206. doi: 10.1016/j.jcf.2016.12.011. Epub 2016 Dec 28.

PMID:
28040480
9.

Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.

Marelli C, Guissart C, Hubsch C, Renaud M, Villemin JP, Larrieu L, Charles P, Ayrignac X, Sacconi S, Collignon P, Cuntz-Shadfar D, Perrin L, Benarrosh A, Degardin A, Lagha-Boukbiza O, Mutez E, Carlander B, Morales RJ, Gonzalez V, Carra-Dalliere C, Azakri S, Mignard C, Ollagnon E, Pageot N, Chretien D, Geny C, Azulay JP, Tranchant C, Claustres M, Labauge P, Anheim M, Goizet C, Calvas P, Koenig M.

Hum Mutat. 2016 Dec;37(12):1340-1353. doi: 10.1002/humu.23063. Epub 2016 Sep 2.

PMID:
27528516
10.

Expanding the spectrum of PEX10-related peroxisomal biogenesis disorders: slowly progressive recessive ataxia.

Renaud M, Guissart C, Mallaret M, Ferdinandusse S, Cheillan D, Drouot N, Muller J, Claustres M, Tranchant C, Anheim M, Koenig M.

J Neurol. 2016 Aug;263(8):1552-8. doi: 10.1007/s00415-016-8167-3. Epub 2016 May 26.

PMID:
27230853
11.

Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2).

Guissart C, Drouot N, Oncel I, Leheup B, Gershoni-Barush R, Muller J, Ferdinandusse S, Larrieu L, Anheim M, Arslan EA, Claustres M, Tranchant C, Topaloglu H, Koenig M.

Eur J Hum Genet. 2016 Aug;24(8):1154-9. doi: 10.1038/ejhg.2015.259. Epub 2015 Dec 16.

12.

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
13.

Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control.

Guissart C, Debant V, Desgeorges M, Bareil C, Raynal C, Toga C, Pritchard V, Koenig M, Claustres M, Vincent MC.

Clin Chem Lab Med. 2015 Feb;53(2):205-15. doi: 10.1515/cclm-2014-0501.

PMID:
25274949
14.

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C, Li X, Leheup B, Drouot N, Montaut-Verient B, Raffo E, Jonveaux P, Roux AF, Claustres M, Fliegel L, Koenig M.

Hum Mol Genet. 2015 Jan 15;24(2):463-70. doi: 10.1093/hmg/ddu461. Epub 2014 Sep 8.

PMID:
25205112
15.

Turning unreactive copper acetylides into remarkably powerful and mild alkyne transfer reagents by oxidative umpolung.

Evano G, Jouvin K, Theunissen C, Guissart C, Laouiti A, Tresse C, Heimburger J, Bouhoute Y, Veillard R, Lecomte M, Nitelet A, Schweizer S, Blanchard N, Alayrac C, Gaumont AC.

Chem Commun (Camb). 2014 Sep 11;50(70):10008-18. doi: 10.1039/c4cc03198a. Review.

PMID:
24911768
16.

Craniosynostosis, anal anomalies, and porokeratosis (CDAGS syndrome): case report and literature review.

Chouery E, Guissart C, Mégarbané H, Aral B, Nassif C, Thauvin-Robinet C, Faivre L, Mégarbané A.

Eur J Med Genet. 2013 Dec;56(12):674-7. doi: 10.1016/j.ejmg.2013.09.012. Epub 2013 Oct 4. Review.

PMID:
24095818
17.

Report of a novel mutation in CRB1 in a Lebanese family presenting retinal dystrophy.

Jalkh N, Guissart C, Chouery E, Yammine T, El Ali N, Farah HA, Mégarbané A.

Ophthalmic Genet. 2014 Mar;35(1):57-62. doi: 10.3109/13816810.2013.763995. Epub 2013 Jan 30.

PMID:
23362850

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