Hackman P - Search Results

1

Targeted next-generation sequencing assay for detection of mutations in primary myopathies.

Evilä A, Arumilli M, Udd B, Hackman P. Evilä A, et al. Among authors: hackman p. Neuromuscul Disord. 2016 Jan;26(1):7-15. doi: 10.1016/j.nmd.2015.10.003. Epub 2015 Nov 25. Neuromuscul Disord. 2016. PMID: 26627873

2

Congenital myasthenic syndrome associated with episodic apnea and sudden infant death.

Byring RF, Pihko H, Tsujino A, Shen XM, Gustafsson B, Hackman P, Ohno K, Engel AG, Udd B. Byring RF, et al. Among authors: hackman p. Neuromuscul Disord. 2002 Aug;12(6):548-53. doi: 10.1016/s0960-8966(01)00336-4. Neuromuscul Disord. 2002. PMID: 12117478

3

Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin.

Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, Witt C, Peltonen L, Richard I, Udd B. Hackman P, et al. Am J Hum Genet. 2002 Sep;71(3):492-500. doi: 10.1086/342380. Epub 2002 Jul 26. Am J Hum Genet. 2002. PMID: 12145747 Free PMC article.

4

[Respiratory arrests caused by congenital myasthenia gravis syndrome].

Byring RF, Ohno K, Pihko H, Gustafsson B, Hackman P, Engel A, Udd B. Byring RF, et al. Among authors: hackman p. Duodecim. 2002;118(22):2323-6. Duodecim. 2002. PMID: 12523110 Finnish. No abstract available.

5

Touch-down method for high-performance sequencing of polymerase chain reaction products.

Marchand S, Hajdari P, Hackman P, Udd B, Richard I. Marchand S, et al. Among authors: hackman p. Anal Biochem. 2003 Apr 15;315(2):270-2. doi: 10.1016/s0003-2697(02)00613-9. Anal Biochem. 2003. PMID: 12689837 No abstract available.

6

[A new type of myotonic dystrophy].

Auvinen S, Vihola A, Krahe R, Kupila J, Hackman P, Hietaharju A, Udd B. Auvinen S, et al. Among authors: hackman p. Duodecim. 2003;119(8):707-13. Duodecim. 2003. PMID: 12806729 Review. Finnish. No abstract available.

7

Tibial muscular dystrophy in a Belgian family.

Van den Bergh PY, Bouquiaux O, Verellen C, Marchand S, Richard I, Hackman P, Udd B. Van den Bergh PY, et al. Among authors: hackman p. Ann Neurol. 2003 Aug;54(2):248-51. doi: 10.1002/ana.10647. Ann Neurol. 2003. PMID: 12891679

8

New methods for molecular diagnosis and demonstration of the (CCTG)n mutation in myotonic dystrophy type 2 (DM2).

Sallinen R, Vihola A, Bachinski LL, Huoponen K, Haapasalo H, Hackman P, Zhang S, Sirito M, Kalimo H, Meola G, Horelli-Kuitunen N, Wessman M, Krahe R, Udd B. Sallinen R, et al. Among authors: hackman p. Neuromuscul Disord. 2004 Apr;14(4):274-83. doi: 10.1016/j.nmd.2004.01.002. Neuromuscul Disord. 2004. PMID: 15019706

9

Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3).

Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestilä M, Udd B. Haravuori H, et al. Among authors: hackman p. Neuromuscul Disord. 2004 Mar;14(3):183-7. doi: 10.1016/j.nmd.2003.12.003. Neuromuscul Disord. 2004. PMID: 15036327

10

Muscle magnetic resonance imaging shows distinct diagnostic patterns in Welander and tibial muscular dystrophy.

Mahjneh I, Lamminen AE, Udd B, Paetau AE, Hackman P, Korhola OA, Somer HV. Mahjneh I, et al. Among authors: hackman p. Acta Neurol Scand. 2004 Aug;110(2):87-93. doi: 10.1111/j.1600-0404.2004.00283.x. Acta Neurol Scand. 2004. PMID: 15242415

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