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Items: 1 to 20 of 234

1.

Identification of rare genetic variation of NLRP1 gene in familial multiple sclerosis.

Maver A, Lavtar P, Ristić S, Stopinšek S, Simčič S, Hočevar K, Sepčić J, Drulović J, Pekmezović T, Novaković I, Alenka H, Rudolf G, Šega S, Starčević-Čizmarević N, Palandačić A, Zamolo G, Kapović M, Likar T, Peterlin B.

Sci Rep. 2017 Jun 16;7(1):3715. doi: 10.1038/s41598-017-03536-9.

2.

Severe early-onset impulsive compulsive behavior and psychosis in PLA2G6-related juvenile Parkinson's disease.

Wirth T, Weibel S, Montaut S, Bigaut K, Rudolf G, Chelly J, Tranchant C, Anheim M.

Parkinsonism Relat Disord. 2017 May 19. pii: S1353-8020(17)30180-3. doi: 10.1016/j.parkreldis.2017.05.014. [Epub ahead of print] No abstract available.

PMID:
28549837
3.

Deciphering the causes of sporadic late-onset cerebellar ataxias: a prospective study with implications for diagnostic work.

Gebus O, Montaut S, Monga B, Wirth T, Cheraud C, Alves Do Rego C, Zinchenko I, Carré G, Hamdaoui M, Hautecloque G, Nguyen-Them L, Lannes B, Chanson JB, Lagha-Boukbiza O, Fleury MC, Devys D, Nicolas G, Rudolf G, Bereau M, Mallaret M, Renaud M, Acquaviva C, Koenig M, Koob M, Kremer S, Namer IJ, Cazeneuve C, Echaniz-Laguna A, Tranchant C, Anheim M.

J Neurol. 2017 Jun;264(6):1118-1126. doi: 10.1007/s00415-017-8500-5. Epub 2017 May 6.

PMID:
28478596
4.

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.

Renaud M, Marcel C, Rudolf G, Schaeffer M, Lagha-Boukbiza O, Chanson JB, Chelly J, Anheim M, Tranchant C.

BMC Neurol. 2016 Nov 23;16(1):238.

5.

Homozygosity of the Dominant Myotilin c.179C>T (p.Ser60Phe) Mutation Causes a More Severe and Proximal Muscular Dystrophy.

Rudolf G, Suominen T, Penttilä S, Hackman P, Evilä A, Lannes B, Echaniz-Laguna A, Bierry G, Tranchant C, Udd B.

J Neuromuscul Dis. 2016 May 27;3(2):275-281.

PMID:
27854214
6.

Clinical utility of array comparative genomic hybridisation in prenatal setting.

Lovrecic L, Remec ZI, Volk M, Rudolf G, Writzl K, Peterlin B.

BMC Med Genet. 2016 Nov 15;17(1):81.

7.

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia.

Broix L, Jagline H, L Ivanova E, Schmucker S, Drouot N, Clayton-Smith J, Pagnamenta AT, Metcalfe KA, Isidor B, Louvier UW, Poduri A, Taylor JC, Tilly P, Poirier K, Saillour Y, Lebrun N, Stemmelen T, Rudolf G, Muraca G, Saintpierre B, Elmorjani A; Deciphering Developmental Disorders study, Moïse M, Weirauch NB, Guerrini R, Boland A, Olaso R, Masson C, Tripathy R, Keays D, Beldjord C, Nguyen L, Godin J, Kini U, Nischké P, Deleuze JF, Bahi-Buisson N, Sumara I, Hinckelmann MV, Chelly J.

Nat Genet. 2016 Nov;48(11):1349-1358. doi: 10.1038/ng.3676. Epub 2016 Oct 3.

8.

Idiopathic focal epilepsies: the "lost tribe".

Pal DK, Ferrie C, Addis L, Akiyama T, Capovilla G, Caraballo R, de Saint-Martin A, Fejerman N, Guerrini R, Hamandi K, Helbig I, Ioannides AA, Kobayashi K, Lal D, Lesca G, Muhle H, Neubauer BA, Pisano T, Rudolf G, Seegmuller C, Shibata T, Smith A, Striano P, Strug LJ, Szepetowski P, Valeta T, Yoshinaga H, Koutroumanidis M.

Epileptic Disord. 2016 Sep 1;18(3):252-88. doi: 10.1684/epd.2016.0839. Review.

PMID:
27435520
9.

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Henden L, Freytag S, Afawi Z, Baldassari S, Berkovic SF, Bisulli F, Canafoglia L, Casari G, Crompton DE, Depienne C, Gecz J, Guerrini R, Helbig I, Hirsch E, Keren B, Klein KM, Labauge P, LeGuern E, Licchetta L, Mei D, Nava C, Pippucci T, Rudolf G, Scheffer IE, Striano P, Tinuper P, Zara F, Corbett M, Bahlo M.

Hum Genet. 2016 Oct;135(10):1117-25. doi: 10.1007/s00439-016-1700-8. Epub 2016 Jul 1.

PMID:
27368338
10.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.

Rudolf G, Lesca G, Mehrjouy MM, Labalme A, Salmi M, Bache I, Bruneau N, Pendziwiat M, Fluss J, de Bellescize J, Scholly J, Møller RS, Craiu D, Tommerup N, Valenti-Hirsch MP, Schluth-Bolard C, Sloan-Béna F, Helbig KL, Weckhuysen S, Edery P, Coulbaut S, Abbas M, Scheffer IE, Tang S, Myers CT, Stamberger H, Carvill GL, Shinde DN, Mefford HC, Neagu E, Huether R, Lu HM, Dica A, Cohen JS, Iliescu C, Pomeran C, Rubenstein J, Helbig I, Sanlaville D, Hirsch E, Szepetowski P.

Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29.

PMID:
27352968
11.

XPR1 mutations are a rare cause of primary familial brain calcification.

Anheim M, López-Sánchez U, Giovannini D, Richard AC, Touhami J, N'Guyen L, Rudolf G, Thibault-Stoll A, Frebourg T, Hannequin D, Campion D, Battini JL, Sitbon M, Nicolas G.

J Neurol. 2016 Aug;263(8):1559-64. doi: 10.1007/s00415-016-8166-4. Epub 2016 May 26.

PMID:
27230854
12.

Azidobupramine, an Antidepressant-Derived Bifunctional Neurotransmitter Transporter Ligand Allowing Covalent Labeling and Attachment of Fluorophores.

Kirmeier T, Gopalakrishnan R, Gormanns V, Werner AM, Cuboni S, Rudolf GC, Höfner G, Wanner KT, Sieber SA, Schmidt U, Holsboer F, Rein T, Hausch F.

PLoS One. 2016 Feb 10;11(2):e0148608. doi: 10.1371/journal.pone.0148608. eCollection 2016.

13.

Brachytelephalangic chondrodysplasia punctata caused by new small hemizygous deletion in a boy presenting with hearing loss.

Vrečar I, Rudolf G, Peterlin B, Lovrecic L.

Mol Cytogenet. 2015 Oct 31;8:83. doi: 10.1186/s13039-015-0187-7. eCollection 2015.

14.

Clinical Exome Sequencing as a Novel Tool for Diagnosing Loeys-Dietz Syndrome Type 3.

Blinc A, Maver A, Rudolf G, Tasič J, Pretnar Oblak J, Berden P, Peterlin B.

Eur J Vasc Endovasc Surg. 2015 Dec;50(6):816-21. doi: 10.1016/j.ejvs.2015.08.003. Epub 2015 Sep 26. Review.

15.

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
16.

Recent Trends in Copper-Catalyzed C-H Amination Routes to Biologically Important Nitrogen Scaffolds.

Subramanian P, Rudolf GC, Kaliappan KP.

Chem Asian J. 2016 Jan;11(2):168-92. doi: 10.1002/asia.201500361. Epub 2015 Oct 13. Review.

PMID:
26353917
17.

Blood Cell Palmitoleate-Palmitate Ratio Is an Independent Prognostic Factor for Amyotrophic Lateral Sclerosis.

Henriques A, Blasco H, Fleury MC, Corcia P, Echaniz-Laguna A, Robelin L, Rudolf G, Lequeu T, Bergaentzle M, Gachet C, Pradat PF, Marchioni E, Andres CR, Tranchant C, Gonzalez De Aguilar JL, Loeffler JP.

PLoS One. 2015 Jul 6;10(7):e0131512. doi: 10.1371/journal.pone.0131512. eCollection 2015.

18.

Cinacalcet, Fibroblast Growth Factor-23, and Cardiovascular Disease in Hemodialysis: The Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) Trial.

Moe SM, Chertow GM, Parfrey PS, Kubo Y, Block GA, Correa-Rotter R, Drüeke TB, Herzog CA, London GM, Mahaffey KW, Wheeler DC, Stolina M, Dehmel B, Goodman WG, Floege J; Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) Trial Investigators*.

Circulation. 2015 Jul 7;132(1):27-39. doi: 10.1161/CIRCULATIONAHA.114.013876. Epub 2015 Jun 9.

19.

Anti-MOG antibodies are present in a subgroup of patients with a neuromyelitis optica phenotype.

Pröbstel AK, Rudolf G, Dornmair K, Collongues N, Chanson JB, Sanderson NS, Lindberg RL, Kappos L, de Seze J, Derfuss T.

J Neuroinflammation. 2015 Mar 8;12:46. doi: 10.1186/s12974-015-0256-1.

20.

The Effects of Cinacalcet in Older and Younger Patients on Hemodialysis: The Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) Trial.

Parfrey PS, Drüeke TB, Block GA, Correa-Rotter R, Floege J, Herzog CA, London GM, Mahaffey KW, Moe SM, Wheeler DC, Kubo Y, Dehmel B, Goodman WG, Chertow GM; Evaluation of Cinacalcet HCl Therapy to Lower Cardiovascular Events (EVOLVE) Trial Investigators.

Clin J Am Soc Nephrol. 2015 May 7;10(5):791-9. doi: 10.2215/CJN.07730814. Epub 2015 Feb 20.

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