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Items: 1 to 50 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.

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.

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.

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.

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: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018.
2006 Nov 8 [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.

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.

21.

Inheritance patterns and phenotypic features of myofibrillar myopathy associated with a BAG3 mutation.

Odgerel Z, Sarkozy A, Lee HS, McKenna C, Rankin J, Straub V, Lochmüller H, Paola F, D'Amico A, Bertini E, Bushby K, Goldfarb LG.

Neuromuscul Disord. 2010 Jul;20(7):438-42. doi: 10.1016/j.nmd.2010.05.004. Epub 2010 Jun 3.

22.

DNA sequencing errors in molecular diagnostics of filamin myopathy.

Odgerel Z, van der Ven PF, Fürst DO, Goldfarb LG.

Clin Chem Lab Med. 2010 Oct;48(10):1409-14. doi: 10.1515/CCLM.2010.272. Epub 2010 Jun 27.

PMID:
20578970
23.

Epidemiology of Viliuisk encephalomyelitis in Eastern Siberia.

Lee HS, Zhdanova SN, Vladimirtsev VA, Platonov FA, Osakovskiy VL, Subbotina EL, Broytman O, Danilova AP, Nikitina RS, Chepurnov AA, Krivoshapkin VG, Gajdusek DC, Savilov YD, Garruto RM, Goldfarb LG.

Epidemiology. 2010 Jan;21(1):24-30. doi: 10.1097/EDE.0b013e3181c30fd2.

24.

Viliuisk encephalomyelitis in Eastern Siberia - analysis of 390 cases.

Goldfarb LG, Vladimirtsev VA, Platanov FA, Lee HS, McLean CA, Masters CL.

Folia Neuropathol. 2009;47(2):171-81.

25.

Tragedy in a heartbeat: malfunctioning desmin causes skeletal and cardiac muscle disease.

Goldfarb LG, Dalakas MC.

J Clin Invest. 2009 Jul;119(7):1806-13. doi: 10.1172/JCI38027. Epub 2009 Jul 1. Review. Erratum in: J Clin Invest. 2011 Jan 4;121(1):455.

26.

Severe infantile-onset cardiomyopathy associated with a homozygous deletion in desmin.

Piñol-Ripoll G, Shatunov A, Cabello A, Larrodé P, de la Puerta I, Pelegrín J, Ramos FJ, Olivé M, Goldfarb LG.

Neuromuscul Disord. 2009 Jun;19(6):418-22. doi: 10.1016/j.nmd.2009.04.004. Epub 2009 May 9.

27.

Mutational analysis of glycyl-tRNA synthetase (GARS) gene in Hirayama disease.

Blumen SC, Drory VE, Sadeh M, El-Ad B, Soimu U, Groozman GB, Bouchard JP, Goldfarb LG.

Amyotroph Lateral Scler. 2010;11(1-2):237-9. doi: 10.3109/17482960902849823.

28.

Intermediate filament diseases: desminopathy.

Goldfarb LG, Olivé M, Vicart P, Goebel HH.

Adv Exp Med Biol. 2008;642:131-64.

29.

In-frame deletion in the seventh immunoglobulin-like repeat of filamin C in a family with myofibrillar myopathy.

Shatunov A, Olivé M, Odgerel Z, Stadelmann-Nessler C, Irlbacher K, van Landeghem F, Bayarsaikhan M, Lee HS, Goudeau B, Chinnery PF, Straub V, Hilton-Jones D, Damian MS, Kaminska A, Vicart P, Bushby K, Dalakas MC, Sambuughin N, Ferrer I, Goebel HH, Goldfarb LG.

Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3.

30.

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.

Olivé M, Shatunov A, Gonzalez L, Carmona O, Moreno D, Quereda LG, Martinez-Matos JA, Goldfarb LG, Ferrer I.

Neuromuscul Disord. 2008 Dec;18(12):929-33. doi: 10.1016/j.nmd.2008.07.009. Epub 2008 Oct 22.

31.

Global distribution of fatal familial insomnia: founder or recurrent mutations.

Lee HS, Goldfarb LG.

Neurogenetics. 2008 Oct;9(4):301-2; author reply 303-4. doi: 10.1007/s10048-008-0135-3. Epub 2008 Jun 21. No abstract available.

32.

Family clustering of Viliuisk encephalomyelitis in traditional and new geographic regions.

Vladimirtsev VA, Nikitina RS, Renwick N, Ivanova AA, Danilova AP, Platonov FA, Krivoshapkin VG, McLean CA, Masters CL, Gajdusek DC, Goldfarb LG.

Emerg Infect Dis. 2007 Sep;13(9):1321-6. doi: 10.3201/eid1309.061585.

33.

T cell receptor profiling in muscle and blood lymphocytes in sporadic inclusion body myositis.

Salajegheh M, Rakocevic G, Raju R, Shatunov A, Goldfarb LG, Dalakas MC.

Neurology. 2007 Oct 23;69(17):1672-9.

PMID:
17954782
34.

Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons.

Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED.

J Neurosci. 2006 Oct 11;26(41):10397-406.

35.

Restrictive cardiomyopathy with atrioventricular conduction block resulting from a desmin mutation.

Pruszczyk P, Kostera-Pruszczyk A, Shatunov A, Goudeau B, Dramiñska A, Takeda K, Sambuughin N, Vicart P, Strelkov SV, Goldfarb LG, Kamiñska A.

Int J Cardiol. 2007 Apr 25;117(2):244-53. Epub 2006 Aug 4.

PMID:
16890305
36.

Variable pathogenic potentials of mutations located in the desmin alpha-helical domain.

Goudeau B, Rodrigues-Lima F, Fischer D, Casteras-Simon M, Sambuughin N, de Visser M, Laforet P, Ferrer X, Chapon F, Sjöberg G, Kostareva A, Sejersen T, Dalakas MC, Goldfarb LG, Vicart P.

Hum Mutat. 2006 Sep;27(9):906-13.

PMID:
16865695
37.

Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits.

Colucci M, Moleres FJ, Xie ZL, Ray-Chaudhury A, Gutti S, Butefisch CM, Cervenakova L, Wang W, Goldfarb LG, Kong Q, Ghetti B, Chen SG, Gambetti P.

J Neuropathol Exp Neurol. 2006 Jul;65(7):642-51.

PMID:
16825951
38.

Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation.

Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C.

Neuromuscul Disord. 2006 Aug;16(8):498-503. Epub 2006 Jun 27.

PMID:
16806931
39.

Genomewide scans in North American families reveal genetic linkage of essential tremor to a region on chromosome 6p23.

Shatunov A, Sambuughin N, Jankovic J, Elble R, Lee HS, Singleton AB, Dagvadorj A, Ji J, Zhang Y, Kimonis VE, Hardy J, Hallett M, Goldfarb LG.

Brain. 2006 Sep;129(Pt 9):2318-31. Epub 2006 May 15.

PMID:
16702189
40.

Different early pathogenesis in myotilinopathy compared to primary desminopathy.

Fischer D, Clemen CS, Olivé M, Ferrer I, Goudeau B, Roth U, Badorf P, Wattjes MP, Lutterbey G, Kral T, van der Ven PF, Fürst DO, Vicart P, Goldfarb LG, Moza M, Carpen O, Reichelt J, Schröder R.

Neuromuscul Disord. 2006 Jun;16(6):361-7. Epub 2006 May 8.

PMID:
16684602
41.

Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins.

Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Récan D, Shatunov A, Sewry CA, Brown SC.

Brain. 2006 May;129(Pt 5):1260-8. Epub 2006 Apr 3.

PMID:
16585054
42.

Images in cardiovascular medicine. Giant right atrium in the setting of desmin-related restrictive cardiomyopathy.

Hager S, Mahrholdt H, Goldfarb LG, Goebel HH, Sechtem U.

Circulation. 2006 Jan 31;113(4):e53-5. No abstract available.

43.

Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.

Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG.

Brain. 2005 Oct;128(Pt 10):2304-14. Epub 2005 Jul 13.

PMID:
16014653
44.

Hsp27-2D-gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies.

Clemen CS, Fischer D, Roth U, Simon S, Vicart P, Kato K, Kaminska AM, Vorgerd M, Goldfarb LG, Eymard B, Romero NB, Goudeau B, Eggermann T, Zerres K, Noegel AA, Schröder R.

FEBS Lett. 2005 Jul 4;579(17):3777-82.

45.

Myotilinopathy: refining the clinical and myopathological phenotype.

Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I.

Brain. 2005 Oct;128(Pt 10):2315-26. Epub 2005 Jun 9.

PMID:
15947064
46.

The enlarging spectrum of desminopathies: new morphological findings, eastward geographic spread, novel exon 3 desmin mutation.

Vrabie A, Goldfarb LG, Shatunov A, Nägele A, Fritz P, Kaczmarek I, Goebel HH.

Acta Neuropathol. 2005 Apr;109(4):411-7. Epub 2005 Mar 10.

PMID:
15759133
47.

Screening of the entire ryanodine receptor type 1 coding region for sequence variants associated with malignant hyperthermia susceptibility in the north american population.

Sambuughin N, Holley H, Muldoon S, Brandom BW, de Bantel AM, Tobin JR, Nelson TE, Goldfarb LG.

Anesthesiology. 2005 Mar;102(3):515-21.

PMID:
15731587
48.

Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.

Shatunov A, Fridman EA, Pagan FI, Leib J, Singleton A, Hallett M, Goldfarb LG.

Clin Genet. 2004 Dec;66(6):496-501.

PMID:
15521976
49.

Genetic studies in relation to kuru: an overview.

Goldfarb LG, Cervenakova L, Gajdusek DC.

Curr Mol Med. 2004 Jun;4(4):375-84. Review.

PMID:
15354868
50.

Evaluating association and transmission of eight inflammatory genes with Viliuisk encephalomyelitis susceptibility.

Oleksyk TK, Goldfarb LG, Sivtseva T, Danilova AP, Osakovsky VL, Shrestha S, O'Brien SJ, Smith MW.

Eur J Immunogenet. 2004 Jun;31(3):121-8.

PMID:
15182325

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