Hackman P - Search Results

1

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B. Jonson PH, et al. Among authors: hackman p. Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30. Eur J Neurol. 2018. PMID: 29437287 Free article.

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

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.

5

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

6

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

7

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

8

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C. Van Goethem G, et al. Among authors: hackman p. Neurology. 2004 Oct 12;63(7):1251-7. doi: 10.1212/01.wnl.0000140494.58732.83. Neurology. 2004. PMID: 15477547

9

Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J.

Udd B, Vihola A, Sarparanta J, Richard I, Hackman P. Udd B, et al. Among authors: hackman p. Neurology. 2005 Feb 22;64(4):636-42. doi: 10.1212/01.WNL.0000151853.50144.82. Neurology. 2005. PMID: 15728284

10

Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.

Hackman P, Juvonen V, Sarparanta J, Penttinen M, Aärimaa T, Uusitalo M, Auranen M, Pihko H, Alén R, Junes M, Lönnqvist T, Kalimo H, Udd B. Hackman P, et al. Muscle Nerve. 2005 Feb;31(2):199-204. doi: 10.1002/mus.20267. Muscle Nerve. 2005. PMID: 15736300

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

120 results

Search Page

Filters