Hackman P - Search Results

1

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

2

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.

3

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

4

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.

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

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

7

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

8

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

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

Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.

Hakonen AH, Heiskanen S, Juvonen V, Lappalainen I, Luoma PT, Rantamaki M, Goethem GV, Lofgren A, Hackman P, Paetau A, Kaakkola S, Majamaa K, Varilo T, Udd B, Kaariainen H, Bindoff LA, Suomalainen A. Hakonen AH, et al. Among authors: hackman p. Am J Hum Genet. 2005 Sep;77(3):430-41. doi: 10.1086/444548. Epub 2005 Jul 27. Am J Hum Genet. 2005. PMID: 16080118 Free PMC article.

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