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Items: 1 to 20 of 22

1.

Multiplex Screen of Serum Biomarkers in Facioscapulohumeral Muscular Dystrophy.

Statland J, Donlin-Smith CM, Tapscott SJ, van der Maarel S, Tawil R.

J Neuromuscul Dis. 2014;1(2):181-190.

2.

Muscle pathology grade for facioscapulohumeral muscular dystrophy biopsies.

Statland JM, Shah B, Henderson D, Van Der Maarel S, Tapscott SJ, Tawil R.

Muscle Nerve. 2015 Oct;52(4):521-6. doi: 10.1002/mus.24621. Epub 2015 Jun 18.

3.

High prevalence of incomplete right bundle branch block in facioscapulohumeral muscular dystrophy without cardiac symptoms.

van Dijk GP, van der Kooi E, Behin A, Smeets J, Timmermans J, van der Maarel S, Padberg G, Voermans N, van Engelen B.

Funct Neurol. 2014 Jul-Sep;29(3):159-65.

4.

Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.

Gallardo E, de Luna N, Diaz-Manera J, Rojas-García R, Gonzalez-Quereda L, Flix B, de Morrée A, van der Maarel S, Illa I.

PLoS One. 2011;6(12):e29061. doi: 10.1371/journal.pone.0029061. Epub 2011 Dec 16.

5.

Distinguishing the 4qA and 4qB variants is essential for the diagnosis of facioscapulohumeral muscular dystrophy in the Chinese population.

Wang ZQ, Wang N, van der Maarel S, Murong SX, Wu ZY.

Eur J Hum Genet. 2011 Jan;19(1):64-9. doi: 10.1038/ejhg.2010.143. Epub 2010 Aug 25.

6.

Minimum information about a protein affinity reagent (MIAPAR).

Bourbeillon J, Orchard S, Benhar I, Borrebaeck C, de Daruvar A, Dübel S, Frank R, Gibson F, Gloriam D, Haslam N, Hiltker T, Humphrey-Smith I, Hust M, Juncker D, Koegl M, Konthur Z, Korn B, Krobitsch S, Muyldermans S, Nygren PA, Palcy S, Polic B, Rodriguez H, Sawyer A, Schlapshy M, Snyder M, Stoevesandt O, Taussig MJ, Templin M, Uhlen M, van der Maarel S, Wingren C, Hermjakob H, Sherman D.

Nat Biotechnol. 2010 Jul;28(7):650-3. doi: 10.1038/nbt0710-650. No abstract available.

PMID:
20622827
7.

171st ENMC international workshop: Standards of care and management of facioscapulohumeral muscular dystrophy.

Tawil R, van der Maarel S, Padberg GW, van Engelen BG.

Neuromuscul Disord. 2010 Jul;20(7):471-5. doi: 10.1016/j.nmd.2010.04.007. No abstract available.

PMID:
20554202
8.

Comprehensive expression analysis of FSHD candidate genes at the mRNA and protein level.

Klooster R, Straasheijm K, Shah B, Sowden J, Frants R, Thornton C, Tawil R, van der Maarel S.

Eur J Hum Genet. 2009 Dec;17(12):1615-24. doi: 10.1038/ejhg.2009.62. Epub 2009 Oct 7.

9.

A community standard format for the representation of protein affinity reagents.

Gloriam DE, Orchard S, Bertinetti D, Björling E, Bongcam-Rudloff E, Borrebaeck CA, Bourbeillon J, Bradbury AR, de Daruvar A, Dübel S, Frank R, Gibson TJ, Gold L, Haslam N, Herberg FW, Hiltke T, Hoheisel JD, Kerrien S, Koegl M, Konthur Z, Korn B, Landegren U, Montecchi-Palazzi L, Palcy S, Rodriguez H, Schweinsberg S, Sievert V, Stoevesandt O, Taussig MJ, Ueffing M, Uhlén M, van der Maarel S, Wingren C, Woollard P, Sherman DJ, Hermjakob H.

Mol Cell Proteomics. 2010 Jan;9(1):1-10. doi: 10.1074/mcp.M900185-MCP200. Epub 2009 Aug 11.

10.

ProteomeBinders: planning a European resource of affinity reagents for analysis of the human proteome.

Taussig MJ, Stoevesandt O, Borrebaeck CA, Bradbury AR, Cahill D, Cambillau C, de Daruvar A, Dübel S, Eichler J, Frank R, Gibson TJ, Gloriam D, Gold L, Herberg FW, Hermjakob H, Hoheisel JD, Joos TO, Kallioniemi O, Koegl M, Konthur Z, Korn B, Kremmer E, Krobitsch S, Landegren U, van der Maarel S, McCafferty J, Muyldermans S, Nygren PA, Palcy S, Plückthun A, Polic B, Przybylski M, Saviranta P, Sawyer A, Sherman DJ, Skerra A, Templin M, Ueffing M, Uhlén M.

Nat Methods. 2007 Jan;4(1):13-7. Erratum in: Nat Methods. 2007 Feb;4(2):187. Koegll, Manfred [corrected to Koegl, Manfred].

PMID:
17195019
11.

Diagnostic challenges in facioscapulohumeral muscular dystrophy.

Sacconi S, Salviati L, Bourget I, Figarella D, Péréon Y, Lemmers R, van der Maarel S, Desnuelle C.

Neurology. 2006 Oct 24;67(8):1464-6.

PMID:
17060574
12.

[First facioscapulohumeral muscular dystrophy prenatal diagnosis in a Bulgarian family].

Buzhkov BTs, Vŭzharova R, Dimitrova V, Dimova I, Tŭrnev I, van der Wielen M, van der Maarel S, Bakker B.

Akush Ginekol (Sofiia). 2005;44(2):30-3. Bulgarian.

PMID:
15853025
13.

Testing the position-effect variegation hypothesis for facioscapulohumeral muscular dystrophy by analysis of histone modification and gene expression in subtelomeric 4q.

Jiang G, Yang F, van Overveld PG, Vedanarayanan V, van der Maarel S, Ehrlich M.

Hum Mol Genet. 2003 Nov 15;12(22):2909-21. Epub 2003 Sep 23.

PMID:
14506132
14.

Clinical Studies in Non-chromosome 4-Linked Facioscapulohumeral Muscular Dystrophy.

Tim RW, Gilbert JR, Stajich JM, Rampersaud E, Viles KD, Tawil R, Padberg GW, Frants R, van der Maarel S, Bossen EH, Friedman AH, Pericak-Vance MA, Speer MC.

J Clin Neuromuscul Dis. 2001 Sep;3(1):1-7.

PMID:
19078645
15.

Active genes in junk DNA? Characterization of DUX genes embedded within 3.3 kb repeated elements.

Beckers M, Gabriëls J, van der Maarel S, De Vriese A, Frants RR, Collen D, Belayew A.

Gene. 2001 Feb 7;264(1):51-7.

PMID:
11245978
16.

Molecular cloning of Xp11 breakpoints in two unrelated mentally retarded females with X;autosome translocations.

Nothwang HG, Schröer A, van der Maarel S, Kübart S, Schneider S, Riesselmann L, Menzel C, Hinzmann B, Vogt D, Rosenthal A, Fryns J, Tommerup N, Haaf T, Ropers HH, Wirth J.

Cytogenet Cell Genet. 2000;90(1-2):126-33.

PMID:
11060462
17.

DXS6673E encodes a predominantly nuclear protein, and its mouse ortholog DXHXS6673E is alternatively spliced in a developmental- and tissue-specific manner.

Scheer MP, van der Maarel S, Kübart S, Schulz A, Wirth J, Schweiger S, Ropers H, Nothwang HG.

Genomics. 2000 Jan 1;63(1):123-32.

PMID:
10662551
18.

Somatic pairing between subtelomeric chromosome regions: implications for human genetic disease?

Stout K, van der Maarel S, Frants RR, Padberg GW, Ropers HH, Haaf T.

Chromosome Res. 1999;7(5):323-9.

PMID:
10515207
19.

Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.

Wirth J, Nothwang HG, van der Maarel S, Menzel C, Borck G, Lopez-Pajares I, Brøndum-Nielsen K, Tommerup N, Bugge M, Ropers HH, Haaf T.

J Med Genet. 1999 Apr;36(4):271-8.

20.

FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates.

Grewal PK, Todd LC, van der Maarel S, Frants RR, Hewitt JE.

Gene. 1998 Aug 17;216(1):13-9.

PMID:
9714712

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