Skinner M - Search Results

1

A new amyloidogenic transthyretin variant (Val122Ala) found in a compound heterozygous patient.

Théberge R, Connors L, Skare J, Skinner M, Falk RH, Costello CE. Théberge R, et al. Among authors: skinner m. Amyloid. 1999 Mar;6(1):54-8. doi: 10.3109/13506129908993288. Amyloid. 1999. PMID: 10211412

2

Characterization of transthyretin variants in familial transthyretin amyloidosis by mass spectrometric peptide mapping and DNA sequence analysis.

Lim A, Prokaeva T, McComb ME, O'Connor PB, Théberge R, Connors LH, Skinner M, Costello CE. Lim A, et al. Among authors: skinner m. Anal Chem. 2002 Feb 15;74(4):741-51. doi: 10.1021/ac010780+. Anal Chem. 2002. PMID: 11866053

3

Identification of a novel transthyretin Thr59Lys/Arg104His. A case of compound heterozygosity in a Chinese patient diagnosed with familial transthyretin amyloidosis.

Lim A, Prokaeva T, Connor LH, Falk RH, Skinner M, Costello CE. Lim A, et al. Among authors: skinner m. Amyloid. 2002 Jun;9(2):134-40. Amyloid. 2002. PMID: 12440486

4

Identification of S-sulfonation and S-thiolation of a novel transthyretin Phe33Cys variant from a patient diagnosed with familial transthyretin amyloidosis.

Lim A, Prokaeva T, McComb ME, Connors LH, Skinner M, Costello CE. Lim A, et al. Among authors: skinner m. Protein Sci. 2003 Aug;12(8):1775-85. doi: 10.1110/ps.0349703. Protein Sci. 2003. PMID: 12876326 Free PMC article.

5

A rare transthyretin mutation (Asp18Glu) associated with cardiomyopathy.

Connors LH, Yamashita T, Yazaki M, Skinner M, Benson MD. Connors LH, et al. Among authors: skinner m. Amyloid. 2004 Mar;11(1):61-6. doi: 10.1080/13506120410001682569. Amyloid. 2004. PMID: 15185501

6

A new transthyretin variant (Glu61Gly) associated with cardiomyopathy.

Rosenzweig M, Skinner M, Prokaeva T, Théberge R, Costello C, Drachman BM, Connors LH. Rosenzweig M, et al. Among authors: skinner m. Amyloid. 2007 Mar;14(1):65-71. doi: 10.1080/13506120601116625. Amyloid. 2007. PMID: 17453626

7

A simple screening test for variant transthyretins associated with familial transthyretin amyloidosis using isoelectric focusing.

Connors LH, Ericsson T, Skare J, Jones LA, Lewis WD, Skinner M. Connors LH, et al. Among authors: skinner m. Biochim Biophys Acta. 1998 Sep 30;1407(3):185-92. doi: 10.1016/s0925-4439(98)00037-4. Biochim Biophys Acta. 1998. PMID: 9748569 Free article.

8

Characterization of transthyretin mutants from serum using immunoprecipitation, HPLC/electrospray ionization and matrix-assisted laser desorption/ionization mass spectrometry.

Théberge R, Connors L, Skinner M, Skare J, Costello CE. Théberge R, et al. Among authors: skinner m. Anal Chem. 1999 Jan 15;71(2):452-9. doi: 10.1021/ac980531u. Anal Chem. 1999. PMID: 9949732 Clinical Trial.

9

A new transthyretin variant (Ser23Asn) associated with familial amyloidosis in a Portuguese patient.

Connors LH, Théberge R, Skare J, Costello CE, Falk RH, Skinner M. Connors LH, et al. Among authors: skinner m. Amyloid. 1999 Jun;6(2):114-8. doi: 10.3109/13506129909007311. Amyloid. 1999. PMID: 10439117

10

Detection of transthyretin variants using immunoprecipitation and matrix-assisted laser desorption/ionization bioreactive probes: a clinical application of mass spectrometry.

Théberge R, Connors LH, Skinner M, Costello CE. Théberge R, et al. Among authors: skinner m. J Am Soc Mass Spectrom. 2000 Feb;11(2):172-5. doi: 10.1016/S1044-0305(99)00136-1. J Am Soc Mass Spectrom. 2000. PMID: 10689671 Free article.

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