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Items: 1 to 20 of 143

1.

[THE ANALYSIS OF LIFE SPAN AND MORTALITY OF PATIENTS WITH SPINOCEREBELLAR ATAXIA TYPE I].

Tikhonov DG, Goldfarb LG, Neustroeva TS, Yakovleva NV, Timofeev LF, Luckan IP, Platonov FA.

Probl Sotsialnoi Gig Zdravookhranenniiai Istor Med. 2015 Nov-Dec;(6):31-4. Russian.

PMID:
27116835
2.

Genetic fitness and selection intensity in a population affected with high-incidence spinocerebellar ataxia type 1.

Platonov FA, Tyryshkin K, Tikhonov DG, Neustroyeva TS, Sivtseva TM, Yakovleva NV, Nikolaev VP, Sidorova OG, Kononova SK, Goldfarb LG, Renwick NM.

Neurogenetics. 2016 Jul;17(3):179-85. doi: 10.1007/s10048-016-0481-5. Epub 2016 Apr 22.

PMID:
27106293
3.

New insights into the protein aggregation pathology in myotilinopathy by combined proteomic and immunolocalization analyses.

Maerkens A, Olivé M, Schreiner A, Feldkirchner S, Schessl J, Uszkoreit J, Barkovits K, Güttsches AK, Theis V, Eisenacher M, Tegenthoff M, Goldfarb LG, Schröder R, Schoser B, van der Ven PF, Fürst DO, Vorgerd M, Marcus K, Kley RA.

Acta Neuropathol Commun. 2016 Feb 3;4:8. doi: 10.1186/s40478-016-0280-0.

4.

Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2.

Sambuughin N, Goldfarb LG, Sivtseva TM, Davydova TK, Vladimirtsev VA, Osakovskiy VL, Danilova AP, Nikitina RS, Ylakhova AN, Diachkovskaya MP, Sundborger AC, Renwick NM, Platonov FA, Hinshaw JE, Toro C.

BMC Neurol. 2015 Oct 30;15:223. doi: 10.1186/s12883-015-0481-3.

5.

A new disease allele for the p.C30071R mutation in titin causing hereditary myopathy with early respiratory failure.

Pfeffer G, Sambuughin N, Olivé M, Tyndel F, Toro C, Goldfarb LG, Chinnery PF.

Neuromuscul Disord. 2014 Mar;24(3):241-4. doi: 10.1016/j.nmd.2013.12.001. Epub 2013 Dec 11.

6.

Myofibrillar myopathies: new developments.

Olivé M, Kley RA, Goldfarb LG.

Curr Opin Neurol. 2013 Oct;26(5):527-35. doi: 10.1097/WCO.0b013e328364d6b1. Review.

PMID:
23995273
7.

Differential proteomic analysis of abnormal intramyoplasmic aggregates in desminopathy.

Maerkens A, Kley RA, Olivé M, Theis V, van der Ven PF, Reimann J, Milting H, Schreiner A, Uszkoreit J, Eisenacher M, Barkovits K, Güttsches AK, Tonillo J, Kuhlmann K, Meyer HE, Schröder R, Tegenthoff M, Fürst DO, Müller T, Goldfarb LG, Vorgerd M, Marcus K.

J Proteomics. 2013 Sep 2;90:14-27. doi: 10.1016/j.jprot.2013.04.026. Epub 2013 Apr 30.

PMID:
23639843
8.

Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins.

Toro C, Olivé M, Dalakas MC, Sivakumar K, Bilbao JM, Tyndel F, Vidal N, Farrero E, Sambuughin N, Goldfarb LG.

BMC Neurol. 2013 Mar 20;13:29. doi: 10.1186/1471-2377-13-29.

9.

Impairment of protein degradation in myofibrillar myopathy caused by FLNC/filamin C mutations.

Kley RA, van der Ven PF, Olivé M, Höhfeld J, Goldfarb LG, Fürst DO, Vorgerd M.

Autophagy. 2013 Mar;9(3):422-3. doi: 10.4161/auto.22921. Epub 2012 Dec 13.

10.

Filamin C-related myopathies: pathology and mechanisms.

Fürst DO, Goldfarb LG, Kley RA, Vorgerd M, Olivé M, van der Ven PF.

Acta Neuropathol. 2013 Jan;125(1):33-46. doi: 10.1007/s00401-012-1054-9. Epub 2012 Oct 30.

PMID:
23109048
11.

Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain.

Maddison P, Damian MS, Sewry C, McGorrian C, Winer JB, Odgerel Z, Shatunov A, Lee HS, Goldfarb LG.

Eur Neurol. 2012;68(5):279-86. doi: 10.1159/000341617. Epub 2012 Oct 5.

12.

Pathophysiology of protein aggregation and extended phenotyping in filaminopathy.

Kley RA, Serdaroglu-Oflazer P, Leber Y, Odgerel Z, van der Ven PF, Olivé M, Ferrer I, Onipe A, Mihaylov M, Bilbao JM, Lee HS, Höhfeld J, Djinović-Carugo K, Kong K, Tegenthoff M, Peters SA, Stenzel W, Vorgerd M, Goldfarb LG, Fürst DO.

Brain. 2012 Sep;135(Pt 9):2642-60. doi: 10.1093/brain/aws200.

13.

Novel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.

Tasca G, Odgerel Z, Monforte M, Aurino S, Clarke NF, Waddell LB, Udd B, Ricci E, Goldfarb LG.

Muscle Nerve. 2012 Aug;46(2):275-82. doi: 10.1002/mus.23349.

14.

Kuru: genes, cannibals and neuropathology.

Liberski PP, Sikorska B, Lindenbaum S, Goldfarb LG, McLean C, Hainfellner JA, Brown P.

J Neuropathol Exp Neurol. 2012 Feb;71(2):92-103. doi: 10.1097/NEN.0b013e3182444efd. Review.

15.

Genetic variants in potassium channels are associated with type 2 diabetes in a Mongolian population.

Odgerel Z, Lee HS, Erdenebileg N, Gandbold S, Luvsanjamba M, Sambuughin N, Sonomtseren S, Sharavdorj P, Jodov E, Altaisaikhan K, Goldfarb LG.

J Diabetes. 2012 Sep;4(3):238-42. doi: 10.1111/j.1753-0407.2011.00177.x.

16.

GARS-Associated Axonal Neuropathy.

Goldfarb LG, Sivakumar K.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Fong CT, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
2006 Nov 08 [updated 2011 Aug 25].

17.

Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy.

Olivé M, Odgerel Z, Martínez A, Poza JJ, Bragado FG, Zabalza RJ, Jericó I, Gonzalez-Mera L, Shatunov A, Lee HS, Armstrong J, Maraví E, Arroyo MR, Pascual-Calvet J, Navarro C, Paradas C, Huerta M, Marquez F, Rivas EG, Pou A, Ferrer I, Goldfarb LG.

Neuromuscul Disord. 2011 Aug;21(8):533-42. doi: 10.1016/j.nmd.2011.05.002. Epub 2011 Jun 14.

PMID:
21676617
18.

Dominant-negative effects of a novel mutation in the filamin myopathy.

van der Ven PF, Odgerel Z, Fürst DO, Goldfarb LG, Kono S, Miyajima H.

Neurology. 2010 Dec 7;75(23):2137-8. doi: 10.1212/WNL.0b013e3182031bb3. No abstract available.

PMID:
21135393
19.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

Sambuughin N, Yau KS, Olivé M, Duff RM, Bayarsaikhan M, Lu S, Gonzalez-Mera L, Sivadorai P, Nowak KJ, Ravenscroft G, Mastaglia FL, North KN, Ilkovski B, Kremer H, Lammens M, van Engelen BG, Fabian V, Lamont P, Davis MR, Laing NG, Goldfarb LG.

Am J Hum Genet. 2010 Dec 10;87(6):842-7. doi: 10.1016/j.ajhg.2010.10.020. Epub 2010 Nov 25. Erratum in: Am J Hum Genet. 2011 Jan 7;88(1):122.

20.

Nemaline myopathy type 6: clinical and myopathological features.

Olivé M, Goldfarb LG, Lee HS, Odgerel Z, Blokhin A, Gonzalez-Mera L, Moreno D, Laing NG, Sambuughin N.

Muscle Nerve. 2010 Dec;42(6):901-7. doi: 10.1002/mus.21788.

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