Sambuughin N - Search Results

1

Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E. D'Amico A, et al. Among authors: sambuughin n. Neuromuscul Disord. 2005 Dec;15(12):847-50. doi: 10.1016/j.nmd.2005.09.007. Epub 2005 Nov 8. Neuromuscul Disord. 2005. PMID: 16288872

2

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. Pfeffer G, et al. Among authors: sambuughin n. Neuromuscul Disord. 2014 Mar;24(3):241-4. doi: 10.1016/j.nmd.2013.12.001. Epub 2013 Dec 11. Neuromuscul Disord. 2014. PMID: 24444549 Free PMC article.

3

Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations.

Dalakas MC, Dagvadorj A, Goudeau B, Park KY, Takeda K, Simon-Casteras M, Vasconcelos O, Sambuughin N, Shatunov A, Nagle JW, Sivakumar K, Vicart P, Goldfarb LG. Dalakas MC, et al. Among authors: sambuughin n. Neuromuscul Disord. 2003 Mar;13(3):252-8. doi: 10.1016/s0960-8966(02)00271-7. Neuromuscul Disord. 2003. PMID: 12609507

4

Identification and functional characterization of a novel ryanodine receptor mutation causing malignant hyperthermia in North American and South American families.

Sambuughin N, Nelson TE, Jankovic J, Xin C, Meissner G, Mullakandov M, Ji J, Rosenberg H, Sivakumar K, Goldfarb LG. Sambuughin N, et al. Neuromuscul Disord. 2001 Sep;11(6-7):530-7. doi: 10.1016/s0960-8966(01)00202-4. Neuromuscul Disord. 2001. PMID: 11525881

5

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: sambuughin n. Acta Neuropathol. 2003 Jul;106(1):1-7. doi: 10.1007/s00401-003-0695-0. Epub 2003 Apr 1. Acta Neuropathol. 2003. PMID: 12669240

6

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. Shatunov A, et al. Among authors: sambuughin n. Eur J Hum Genet. 2009 May;17(5):656-63. doi: 10.1038/ejhg.2008.226. Epub 2008 Dec 3. Eur J Hum Genet. 2009. PMID: 19050726 Free PMC article.

7

Novel exon 3B proteolipid protein gene mutation causing late-onset spastic paraplegia type 2 with variable penetrance in female family members.

Sivakumar K, Sambuughin N, Selenge B, Nagle JW, Baasanjav D, Hudson LD, Goldfarb LG. Sivakumar K, et al. Among authors: sambuughin n. Ann Neurol. 1999 May;45(5):680-3. Ann Neurol. 1999. PMID: 10319897

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. Toro C, et al. Among authors: sambuughin n. BMC Neurol. 2013 Mar 20;13:29. doi: 10.1186/1471-2377-13-29. BMC Neurol. 2013. PMID: 23514108 Free PMC article.

9

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. Sambuughin N, et al. BMC Neurol. 2015 Oct 30;15:223. doi: 10.1186/s12883-015-0481-3. BMC Neurol. 2015. PMID: 26517984 Free PMC article.

10

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. Pruszczyk P, et al. Among authors: sambuughin n. Int J Cardiol. 2007 Apr 25;117(2):244-53. doi: 10.1016/j.ijcard.2006.05.019. Epub 2006 Aug 4. Int J Cardiol. 2007. PMID: 16890305

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