Reference table (All references)



References
Year
PubMed Id
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2018
Hackman, P., Sarparanta, J., Lehtinen, S., Vihola, A., Evila, A., Jonson, P. H., Luque, H., Kere, J., Screen, M., Chinnery, P. F., Ahlberg, G., Edstrom, L., Udd, B. Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1. Ann. Neurol. 73: 500-509, 2013.
2013
Hackman, P.; Vihola, A.; Haravuori, H.; Marchand, S.; Sarparanta, J.; de Seze, J.; Labeit, S.; Witt, C.; Peltonen, L.; Richard, I.; Udd, B. : Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am. J. Hum. Genet. 71: 492-500, 2002.
2002
Haghighi, K.; Kolokathis, F.; Gramolini, A. O.; Waggoner, J. R.; Pater, L.; Lynch, R. A.; Fan, G. C.; Tsiapras, D.; Parekh, R. R.; Dorn, G. W., 2nd; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G.A mutation in the human phospholamban gene, deleting arginine 14, results in lethal, hereditary cardiomyopathy. Proc. Nat. Acad. Sci. 103: 1388-1393, 2006.
2006
Haghighi, K.; Kolokathis, F.; Pater, L.; Lynch, R. A.; Asahi, M.; Gramolini, A. O.; Fan, G.-C.; Tsiapras, D.; Hahn, H. S.; Adamopoulos, S.; Liggett, S. B.; Dorn, G. W., II; MacLennan, D. H.; Kremastinos, D. T.; Kranias, E. G. :Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human. J. Clin. Invest. 111: 869-876, 2003.
2003
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. Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin. Am J Hum Genet. 2005 Sep;77(3):430-41. Epub 2005
2005
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2022
Hamanaka K, ?ikrová D, Mitsuhashi S, Masuda H, Sekiguchi Y, Sugiyama A, Shibuya K, Lemmers RJLF, Goossens R, Ogawa M, Nagao K, Obuse C, Noguchi S, Hayashi YK, Kuwabara S, Balog J, Nishino I, van der Maarel SM. Homozygous nonsense variant in LRIF1 associated with facioscapulohumeral muscular dystrophy. Neurology. 2020 Jun 9;94(23):e2441-e2447. doi: 10.1212/WNL.0000000000009617. Epub 2020 May 28. PMID: 32467133; PMCID: PMC7455367.
2020
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2013
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2002
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2007
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2008
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2011
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2004
Haravuori H, Siitonen HA, Mahjneh I, Hackman P, Lahti L, Somer H, Peltonen L, Kestila M, Udd B. Linkage to two separate loci in a family with a novel distal myopathy phenotype (MPD3). Neuromuscul Disord. 2004 Mar;14(3):183-7.
2004
Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, Voit T, Labeit S, Somer H, Peltonen L, Beckmann JS, Udd B. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology. 2001 Apr 10;56(7):869-77.
2001
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1992
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2010
Harms MB, Sommerville RB, Allred P, Bell S, Ma D, Cooper P, Lopate G, Pestronk A, Weihl CC, Baloh RH. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy. Ann Neurol. 2012 Mar;71(3):407-16. doi: 10.1002/ana.22683. Epub 2012 Feb 14.
2012
Harms, M. B., Allred, P., Gardner, R., Jr., Fernandes Filho, J. A., Florence, J., Pestronk, A., Al-Lozi, M., Baloh, R. H. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 75: 539-546, 2010.
2012
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2012
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2009
Haubenberger, D.; Bittner, R. E.; Rauch-Shorny, S.; Zimprich, F.; Mannhalter, C.; Wagner, L.; Mineva, I.; Vass, K.; Auff, E.; Zimprich, A. Inclusion body myopathy and Paget disease is linked to a novel mutation in the VCP gene. Neurology 65: 1304-1305, 2005.
2005
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2000
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1993
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2009
Hayashi, T., Arimura, T., Itoh-Satoh, M., Ueda, K., Hohda, S., Inagaki, N., Takahashi, M., Hori, H., Yasunami, M., Nishi, H., Koga, Y., Nakamura, H., and 10 others. Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy. J. Am. Coll. Cardiol. 44: 2192-2201, 2004.
2004
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2004
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1998
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1994
Hazan J, Lamy C, Melki J, Munnich A, de Recondo J, Weissenbach J. Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. Nat Genet. 1993 Oct;5(2):163-7.
1993
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2023
Hedberg C, Melberg A, Kuhl A, Jenne D, Oldfors A. Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy 7 is caused by a DES mutation. Eur J Hum Genet. 2012 Sep;20(9):984-5. doi: 10.1038/ejhg.2012.39. Epub 2012 Mar 7.
2012
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2019
Hedberg-Oldfors, C., Darin, N., Olsson Engman, M., Orfanos, Z., Thomsen, C., van der Ven, P. F. M., Oldfors, A. A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency. Europ. J. Hum. Genet. 24: 1771-1777, 2016.
2016
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2020
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2014
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1999
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2011
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1993
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2012
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2019
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1995
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2003
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1991
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1994
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1992
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1998
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1994
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2000
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2010
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2010
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2018
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2001
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2016
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1994
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2013
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2020
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2013
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2017
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2002
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2008
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1986
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1987
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1988
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2006
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2015
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2011
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1999
Hong JM, Jeon H, Choi YC, Cho H, Hong YB, Park HJ. A Compound Heterozygous Pathogenic Variant in B4GALNT1 Is Associated With Axonal Charcot-Marie-Tooth Disease. J Clin Neurol. 2021 Oct;17(4):534-540. doi: 10.3988/jcn.2021.17.4.534. PMID: 34595861; PMCID: PMC8490901.
2021
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