Ferrer I - Search Results

1

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. Olivé M, et al. Among authors: ferrer i. Neuromuscul Disord. 2008 Dec;18(12):929-33. doi: 10.1016/j.nmd.2008.07.009. Epub 2008 Oct 22. Neuromuscul Disord. 2008. PMID: 18948002 Free PMC article.

2

Expression of the intermediate filament protein synemin in myofibrillar myopathies and other muscle diseases.

Olivé M, Goldfarb L, Dagvadorj A, Sambuughin N, Paulin D, Li Z, Goudeau B, Vicart P, Ferrer I. Olivé M, et al. Among authors: ferrer i. Acta Neuropathol. 2003 Jul;106(1):1-7. doi: 10.1007/s00401-003-0695-0. Epub 2003 Apr 1. Acta Neuropathol. 2003. PMID: 12669240

3

Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.

Kaminska A, Strelkov SV, Goudeau B, Olivé M, Dagvadorj A, Fidzianska A, Simon-Casteras M, Shatunov A, Dalakas MC, Ferrer I, Kwiecinski H, Vicart P, Goldfarb LG. Kaminska A, et al. Among authors: ferrer i. Hum Genet. 2004 Feb;114(3):306-13. doi: 10.1007/s00439-003-1057-7. Epub 2003 Nov 27. Hum Genet. 2004. PMID: 14648196

4

Overexpression of semicarbazide-sensitive amine oxidase in human myopathies.

Olivé M, Unzeta M, Moreno D, Ferrer I. Olivé M, et al. Among authors: ferrer i. Muscle Nerve. 2004 Feb;29(2):261-6. doi: 10.1002/mus.10550. Muscle Nerve. 2004. PMID: 14755492

5

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG. Dagvadorj A, et al. Among authors: ferrer i. J Neurol. 2004 Feb;251(2):143-9. doi: 10.1007/s00415-004-0289-3. J Neurol. 2004. PMID: 14991347

6

Olivé M, Goldfarb L, Moreno D, Laforet E, Dagvadorj A, Sambuughin N, Martínez-Matos JA, Martínez F, Alió J, Farrero E, Vicart P, Ferrer I. Olivé M, et al. Among authors: ferrer i. J Neurol Sci. 2004 Apr 15;219(1-2):125-37. doi: 10.1016/j.jns.2004.01.007. J Neurol Sci. 2004. PMID: 15050448

7

A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

Alias L, Gallano P, Moreno D, Pujol R, Martínez-Matos JA, Baiget M, Ferrer I, Olivé M. Alias L, et al. Among authors: ferrer i. Neuromuscul Disord. 2004 May;14(5):321-4. doi: 10.1016/j.nmd.2004.01.006. Neuromuscul Disord. 2004. PMID: 15099591

8

Proteasomal expression, induction of immunoproteasome subunits, and local MHC class I presentation in myofibrillar myopathy and inclusion body myositis.

Ferrer I, Martín B, Castaño JG, Lucas JJ, Moreno D, Olivé M. Ferrer I, et al. J Neuropathol Exp Neurol. 2004 May;63(5):484-98. doi: 10.1093/jnen/63.5.484. J Neuropathol Exp Neurol. 2004. PMID: 15198127

9

Myotilinopathy: refining the clinical and myopathological phenotype.

Olivé M, Goldfarb LG, Shatunov A, Fischer D, Ferrer I. Olivé M, et al. Among authors: ferrer i. Brain. 2005 Oct;128(Pt 10):2315-26. doi: 10.1093/brain/awh576. Epub 2005 Jun 9. Brain. 2005. PMID: 15947064 Free article.

10

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. Fischer D, et al. Among authors: ferrer i. Neuromuscul Disord. 2006 Jun;16(6):361-7. doi: 10.1016/j.nmd.2006.03.007. Epub 2006 May 8. Neuromuscul Disord. 2006. PMID: 16684602

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