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Items: 1 to 20 of 121

1.

Prolonged attacks of weakness with hypokalemia in SCN4A-related paramyotonia congenita.

van Osch T, Stunnenberg BC, Sternberg D, Kerklaan BJ.

Muscle Nerve. 2018 Jul 20. doi: 10.1002/mus.26190. [Epub ahead of print] No abstract available.

PMID:
30028520
2.

Substitutions of the S4DIV R2 residue (R1451) in NaV1.4 lead to complex forms of paramyotonia congenita and periodic paralyses.

Poulin H, Gosselin-Badaroudine P, Vicart S, Habbout K, Sternberg D, Giuliano S, Fontaine B, Bendahhou S, Nicole S, Chahine M.

Sci Rep. 2018 Feb 1;8(1):2041. doi: 10.1038/s41598-018-20468-0.

3.

How chromosomal deletions can unmask recessive mutations? Deletions in 10q11.2 associated with CHAT or SLC18A3 mutations lead to congenital myasthenic syndrome.

Schwartz M, Sternberg D, Whalen S, Afenjar A, Isapof A, Chabrol B, Portnoï MF, Heide S, Keren B, Chantot-Bastaraud S, Siffroi JP.

Am J Med Genet A. 2018 Jan;176(1):151-155. doi: 10.1002/ajmg.a.38515. Epub 2017 Nov 12.

PMID:
29130637
4.

Efficacy and safety of midostaurin in patients with advanced systemic mastocytosis: 10-year median follow-up of a phase II trial.

DeAngelo DJ, George TI, Linder A, Langford C, Perkins C, Ma J, Westervelt P, Merker JD, Berube C, Coutre S, Liedtke M, Medeiros B, Sternberg D, Dutreix C, Ruffie PA, Corless C, Graubert TJ, Gotlib J.

Leukemia. 2018 Feb;32(2):470-478. doi: 10.1038/leu.2017.234. Epub 2017 Jul 24.

PMID:
28744009
5.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S.

J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15.

PMID:
28712002
6.

Serum Hepcidin Levels, Iron Dyshomeostasis and Cognitive Loss in Alzheimer's Disease.

Sternberg Z, Hu Z, Sternberg D, Waseh S, Quinn JF, Wild K, Jeffrey K, Zhao L, Garrick M.

Aging Dis. 2017 Apr 1;8(2):215-227. doi: 10.14336/AD.2016.0811. eCollection 2017 Apr.

7.

Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.

Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S.

Am J Hum Genet. 2016 Sep 1;99(3):753-761. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.

8.

Evidence for age-associated cognitive decline from Internet game scores.

Geyer J, Insel P, Farzin F, Sternberg D, Hardy JL, Scanlon M, Mungas D, Kramer J, Mackin RS, Weiner MW.

Alzheimers Dement (Amst). 2015 Jun 3;1(2):260-7. doi: 10.1016/j.dadm.2015.04.002. eCollection 2015 Jun.

9.

Physiological and Pathophysiological Insights of Nav1.4 and Nav1.5 Comparison.

Loussouarn G, Sternberg D, Nicole S, Marionneau C, Le Bouffant F, Toumaniantz G, Barc J, Malak OA, Fressart V, Péréon Y, Baró I, Charpentier F.

Front Pharmacol. 2016 Jan 14;6:314. doi: 10.3389/fphar.2015.00314. eCollection 2015. Review.

10.

A recessive Nav1.4 mutation underlies congenital myasthenic syndrome with periodic paralysis.

Habbout K, Poulin H, Rivier F, Giuliano S, Sternberg D, Fontaine B, Eymard B, Morales RJ, Echenne B, King L, Hanna MG, Männikkö R, Chahine M, Nicole S, Bendahhou S.

Neurology. 2016 Jan 12;86(2):161-9. doi: 10.1212/WNL.0000000000002264. Epub 2015 Dec 11.

11.

Relationship between Inflammation and Aspirin and Clopidogrel Antiplatelet Responses in Acute Ischemic Stroke.

Sternberg Z, Chichelli T, Sternberg D, Sawyer R, Ching M, Janicke D, Ambrus JL, Yu J, Munschauer F.

J Stroke Cerebrovasc Dis. 2016 Feb;25(2):327-34. doi: 10.1016/j.jstrokecerebrovasdis.2015.10.001. Epub 2015 Nov 12.

PMID:
26586373
12.

Impaired surface membrane insertion of homo- and heterodimeric human muscle chloride channels carrying amino-terminal myotonia-causing mutations.

Ronstedt K, Sternberg D, Detro-Dassen S, Gramkow T, Begemann B, Becher T, Kilian P, Grieschat M, Machtens JP, Schmalzing G, Fischer M, Fahlke C.

Sci Rep. 2015 Oct 27;5:15382. doi: 10.1038/srep15382.

13.

Truncating Mutations of MAGEL2, a Gene within the Prader-Willi Locus, Are Responsible for Severe Arthrogryposis.

Mejlachowicz D, Nolent F, Maluenda J, Ranjatoelina-Randrianaivo H, Giuliano F, Gut I, Sternberg D, Laquerrière A, Melki J.

Am J Hum Genet. 2015 Oct 1;97(4):616-20. doi: 10.1016/j.ajhg.2015.08.010. Epub 2015 Sep 10.

14.

Atypical nuclear abnormalities in a patient with Brody disease.

Mussini JM, Magot A, Hantaï D, Sternberg D, Chevessier F, Péréon Y.

Neuromuscul Disord. 2015 Oct;25(10):773-9. doi: 10.1016/j.nmd.2015.07.005. Epub 2015 Jul 13.

PMID:
26248958
15.

High-mobility group box 1 in multiple sclerosis.

Sternberg Z, Sternberg D, Chichelli T, Drake A, Patel N, Kolb C, Chadha K, Yu J, Hojnacki D.

Immunol Res. 2016 Apr;64(2):385-91. doi: 10.1007/s12026-015-8673-x.

PMID:
26100980
16.

Can species traits predict the susceptibility of riverine fish to water resource development? An Australian case study.

Rolls RJ, Sternberg D.

Environ Manage. 2015 Jun;55(6):1315-26. doi: 10.1007/s00267-015-0462-8. Epub 2015 Apr 4.

PMID:
25840696
17.

Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.

Furby A, Vicart S, Camdessanché JP, Fournier E, Chabrier S, Lagrue E, Paricio C, Blondy P, Touraine R, Sternberg D, Fontaine B.

Neuromuscul Disord. 2014 Nov;24(11):953-9. doi: 10.1016/j.nmd.2014.06.439. Epub 2014 Jul 2.

PMID:
25088311
18.

Disease modifying drugs modulate endogenous secretory receptor for advanced glycation end-products, a new biomarker of clinical relapse in multiple sclerosis.

Sternberg Z, Sternberg D, Drake A, Chichelli T, Yu J, Hojnacki D.

J Neuroimmunol. 2014 Sep 15;274(1-2):197-201. doi: 10.1016/j.jneuroim.2014.07.005. Epub 2014 Jul 15.

PMID:
25064498
19.

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy.

Nicole S, Chaouch A, Torbergsen T, Bauché S, de Bruyckere E, Fontenille MJ, Horn MA, van Ghelue M, Løseth S, Issop Y, Cox D, Müller JS, Evangelista T, Stålberg E, Ioos C, Barois A, Brochier G, Sternberg D, Fournier E, Hantaï D, Abicht A, Dusl M, Laval SH, Griffin H, Eymard B, Lochmüller H.

Brain. 2014 Sep;137(Pt 9):2429-43. doi: 10.1093/brain/awu160. Epub 2014 Jun 20.

PMID:
24951643
20.

Focal and abnormally persistent paralysis associated with congenital paramyotonia.

Magot A, David A, Sternberg D, Péréon Y.

BMJ Case Rep. 2014 Jun 17;2014. pii: bcr2014204430. doi: 10.1136/bcr-2014-204430.

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