Reference table (All references)



References
Year
PubMed Id
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
Hammer, M. B., Eleuch-Fayache, G., Schottlaender, L. V., Nehdi, H., Gibbs, J. R., Arepalli, S. K., Chong, S. B., Hernandez, D. G., Sailer, A., Liu, G., Mistry, P. K., Cai, H., Shrader, G., Sassi, C., Bouhlal, Y., Houlden, H., Hentati, F., Amouri, R., Singleton, A. B. Mutations in GBA2 cause autosomal-recessive cerebellar ataxia with spasticity. Am. J. Hum. Genet. 92: 245-251, 2013.
2013
Hand, C. K.; Khoris, J.; Salachas, F.; Gros-Louis, F.; Simoes Lopes, A. A.; Mayeux-Portas, V.; Brewer, C. G.; Brown, R. H., Jr.; Meininger, V.; Camu, W.; Rouleau, G. A. : A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am. J. Hum. Genet. 70: 251-256, 2002. Note: Erratum: Am. J. Hum. Genet. 71: 1007 only, 2002.
2002
Hanein S, Durr A, Ribai P, Forlani S, Leutenegger AL, Nelson I, Babron MC, Elleuch N, Depienne C, Charon C, Brice A and Stevanin G. A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3. Hum Genet 2007.
2007
Hanein S, Martin E, Boukhris A, Byrne P, Goizet C, Hamri A, Benomar A, Lossos A, Denora P, Fernandez J, Elleuch N, Forlani S, Durr A, Feki I, Hutchinson M, Santorelli FM, Mhiri C, Brice A, Stevanin G. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am J Hum Genet. 2008 Apr;82(4):992-1002.
2008
Hara, Y., Balci-Hayta, B., Yoshida-Moriguchi, T., Kanagawa, M., Beltran-Valero de Bernabe, D., Gundesli, H., Willer, T., Satz, J. S., Crawford, R. W., Burden, S. J., Kunz, S., Oldstone, M. B. A., Accardi, A., , Talim, B., Muntoni, F., Topaloglu, H., Dincer, P., Campbell, K. P. A dystroglycan mutation associated with limb-girdle muscular dystrophy. New Eng. J. Med. 364: 939-946, 2011.
2011
Haravuori H, Makela-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet. 1998 Mar;62(3):620-6. Neuromuscul Disord. 2004 Mar;14(3):183-7
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
Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ. Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature. 1992 Feb 6;355(6360):545-6.
1992
Harms MB, Allred P, Gardner R, Jr et al. Dominant spinal muscular atrophy with lower extremity predominance: linkage to 14q32. Neurology 2010;75:539-46.
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
Harms, M. B., Ori-McKenney, K. M., Scoto, M., Tuck, E. P., Bell, S., Ma, D., Masi, S., Allred, P., Al-Lozi, M., Reilly, M. M., Miller, L. J., Jani-Acsadi, A., Pestronk, A., Shy, M. E., Muntoni, F., Vallee, R. B., Baloh, R. H. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy. Neurology 78: 1714-1720, 2012.
2012
Hassel, D., Dahme, T., Erdmann, J., Meder, B., Huge, A., Stoll, M., Just, S., Hess, A., Ehlermann, P. Weichenhan, D., Grimmler, M., Liptau, H., Hetzer, R., Regitz-Zagrosek, V., Fischer, C., Nurnberg, P., Schunkert, H., Katus, H. A., Rottbauer, W. Nexilin mutations destabilize cardiac Z-disks and lead to dilated cardiomyopathy. Nature Med. 15: 1281-1288, 2009.
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
Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, Tim RW, Taivainen A, Bartoloni L, Gilchrist JM, Stajich JM, Gaskell PC, Gilbert JR, Vance JM, Pericak-Vance MA, Carpen O, Westbrook CA, Speer MC. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet. 2000 Sep 1;9(14):2141-7.
2000
Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N. De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet. 1993 Nov;5(3):266-8.
1993
Hayashi YK, Matsuda C, Ogawa M, Goto K, Tominaga K, Mitsuhashi S, Park YE, Nonaka I, Hino-Fukuyo N, Haginoya K, Sugano H, Nishino I. Human PTRF mutations cause secondary deficiency of caveolins resulting in muscular dystrophy with generalized lipodystrophy. J Clin Invest. 2009 Sep;119(9):2623-33.
2009
Hayashi, T.; Arimura, T.; Ueda, K.; Shibata, H.; Hohda, S.; Takahashi, M.; Hori, H.; Koga, Y.; Oka, N.; Imaizumi, T.; Yasunami, M.; Kimura, A.: Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy. Biochem. Biophys. Res. Commun. 313: 178-184, 2004.
2004
Hayashi, Y. K.; Chou, F.-L.; Engvall, E.; Ogawa, M.; Matsuda, C.; Hirabayashi, S.; Yokochi, K.; Ziober, B. L.; Kramer, R. H.; Kaufman, S. J.; Ozawa, E.; Goto, Y.; Nonaka, I.; Tsukahara, T.; Wang, J.; Hoffman, E. P.; Arahata, K. : Mutations in the integrin alpha-7 gene cause congenital myopathy. Nature Genet. 19: 94-97, 1998.
1998
Hazan J, Fontaine B, Bruyn RP, Lamy C, van Deutekom JC, Rime CS, Durr A, Melki J, Lyon-Caen O, Agid Y, et al. Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet. 1994 Sep;3(9):1569-73.
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
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
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
Hedberg, C., Niceta, M., Fattori, F., Lindvall, B., Ciolfi, A., D'Amico, A., Tasca, G., Petrini, S., Tulinius, M., Tartaglia, M., Oldfors, A., Bertini, E. Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations. J. Neurol. 261: 870-876, 2014.
2014
Hedera P, Rainier S, Alvarado D, Zhao X, Williamson J, Otterud B, Leppert M, Fink JK. Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q. Am J Hum Genet. 1999 Feb;64(2):563-9.
1999
Heine, R.; Pika, U.; Lehmann-Horn, F. : A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum. Molec. Genet. 2: 1349-1353, 1993.
1993
Hekman, K. E., Yu, G.-Y., Brown, C. D., Zhu, H., Du, X., Gervin, K., Undlien, D. E., Peterson, A., Stevanin, G., Clark, H. B., Pulst, S. M., Bird, T. D., White, K. P., Gomez, C. M. A conserved eEF2 coding variant in SCA26 leads to loss of translational fidelity and increased susceptibility to proteostatic insult. Hum. Molec. Genet. 21: 5472-5483, 2012.
2012
Helbling-Leclerc A, Zhang X, Topaloglu H, Cruaud C, Tesson F, Weissenbach J, Tome FM, Schwartz K, Fardeau M, Tryggvason K, et al. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy. Nat Genet. 1995 Oct;11(2):216-8.
1995
Hellenbroich, Y.; Bubel, S.; Pawlack, H.; Opitz, S.; Vieregge, P.; Schwinger, E.; Zuhlke, C. : Refinement of the spinocerebellar ataxia type 4 locus in a large German family and exclusion of CAG repeat expansions in this region. J. Neurol. 250: 668-671, 2003.
2003
Hentati A, Bejaoui K, Pericak-Vance MA, Hentati F, Speer MC, Hung WY, Figlewicz DA, Haines J, Rimmler J, Ben Hamida C, et al. Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35. Nat Genet. 1994 Jul;7(3):425-8.
1994
Hentati A, Lamy C, Melki J, Zuber M, Munnich A, de Recondo J. Clinical and genetic heterogeneity of Charcot-Marie-Tooth disease. Genomics. 1992 Jan;12(1):155-7.
1992
Hentati, A.; Ouahchi, K.; Pericak-Vance, M. A.; Nijhawan, D.; Ahmad, A.; Yang, Y.; Rimmler, J.; Hung, W.-Y.; Schlotter, B.; Ahmed, A.; Ben Hamida, M.; Hentati, F.; Siddique, T. : Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2: 55-60, 1998.
1998
Hentati, A.; Pericak-Vance, M. A.; Hung, W.-Y.; Belal, S.; Laing, N.; Boustany, R.-M.; Hentati, F.; Ben Hamida, M.; Siddique, T. : Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity. Hum. Molec. Genet. 3: 1263-1267, 1994.
1994
Herman-Bert A, Stevanin G, Netter JC, Rascol O, Brassat D, Calvas P, Camuzat A, Yuan Q, Schalling M, Durr A, Brice A. Mapping of spinocerebellar ataxia 13 to chromosome 19q13.3-q13.4 in a family with autosomal dominant cerebellar ataxia and mental retardation. Am J Hum Genet. 2000 Jul;67(1):229-35. Epub 2000 May 11.
2000
Herrmann, D. N., Horvath, R., Sowden, J. E., Gonzalez, M., Sanchez-Mejias, A., Guan, Z., Whittaker, R. G., Almodovar, J. L., Lane, M., Bansagi, B., Pyle, A., Boczonadi, V., Lochmuller, H., Griffin, H., Chinnery, P. F., Lloyd, T. E., Littleton, J. T., Zuchner, S. Synaptotagmin 2 mutations cause an autosomal-dominant form of Lambert-Eaton myasthenic syndrome and nonprogressive motor neuropathy. Am. J. Hum. Genet. 95: 332-339, 2014. Note: Erratum: Am. J. Hum. Genet. 95: 472 only, 2014.
2014
Hers HG. alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease). Biochem J. 1963 Jan;86:11-6.
1963
Hershberger RE, Norton N, Morales A, Li D, Siegfried JD, Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ Cardiovasc Genet. 2010 Apr;3(2):155-61. Epub 2010 Mar 9.
2010
Hicks D, , Sarkozy A, Muelas N, Kohle K, Huebner A, Hudson G, Barresi R, Eagle M, Polvikoski T, Bailey G, Miller J, Radunovic A, Hughes P, Roberts R, Krause S, Walter M, Laval S, Straub V, Lochmuller H and Bushby K. A Founder Mutation in Anoctamin 5 is a Major Cause of Limb Girdle Muscular Dystrophy. (Brain, 2010, in press)
2010
Higuchi, I.; Shiraishi, T.; Hashiguchi, T,; Suehara, M.; Niiyama, T.; Nakagawa, M.; Arimura, K.; Maruyama, I.; Osame, M. : Frameshift mutation in the collagen VI gene causes Ullrich's disease. Ann. Neurol. 50: 261-265, 2001.
2001
Higuchi, Y., Hashiguchi, A., Yuan, J., Yoshimura, A., Mitsui, J., Ishiura, H., Tanaka, M., Ishihara, S., Tanabe, H., Nozuma, S., Okamoto, Y., Matsuura, E., and 21 others. Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann. Neurol. 79: 659-672, 2016.
2016
Hillaire D, Leclerc A, Faure S, Topaloglu H, Chiannilkulchai N, Guicheney P, Grinas L, Legos P, Philpot J, Evangelista T, et al. Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping. Hum Mol Genet. 1994 Sep;3(9):1657-61.
1994
Hodgkinson, C. A.; Bohlega, S.; Abu-Amero, S. N.; Cupler, E.; Kambouris, M.; Meyer, B. F.; Bharucha, V. A. : A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14. Neurology 59: 1905-1909, 2002.
2002
Hodgson-Zingman, D. M.; Karst, M. L.; Zingman, L. V.; Heublein, D. M.; Darbar, D.; Herron, K. J.; Ballew, J. D.; de Andrade, M.; Burnett, J. C., Jr.; Olson, T. M. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. New Eng. J. Med. 359: 158-165, 2008.
2008
Hodgson, S.; Boswinkel, E.; Cole, C.; Walker, A.; Dubowitz, V.; Granata, C.; Merlini, L.; Bobrow, M. : A linkage study of Emery-Dreifuss muscular dystrophy. Hum. Genet. 74: 409-416, 1986.
1986
Hoffman EP, Brown RH, Kunkel LM. Dystrophin: the protein product of the Duchenne muscular dystrophy locus. Cell. 1987 Dec 24;51(6):919-28.
1987
Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L, et al. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988 May 26;318(21):1363-8.
1988
Hoffmann, K.; Müller, J. S.; Stricker, S.; Megarbane, A.; Rajab, A.; Lindner, T. H.; Cohen, M.; Chouery, E.; Adaimy, L.; Ghanem, I.; Delague, V.; Boltshauser, E.; Talim, B.; Horvath, R.; Robinson, P. N.; Lochmüller, H.; Hubner, C.; Mundlos, S. : Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet. 79: 303-312, 2006.
2006
Holmes SE, O'Hearn EE, McInnis MG, Gorelick-Feldman DA, Kleiderlein JJ, Callahan C, Kwak NG, Ingersoll-Ashworth RG, Sherr M, Sumner AJ, Sharp AH, Ananth U, Seltzer WK, Boss MA, Vieria-Saecker AM, Epplen JT, Riess O, Ross CA, Margolis RL. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat Genet. 1999 Dec;23(4):391-2.
1999
Hong Y.B., Kang J., Kim J.H., et al. DGAT2 mutation in a family with autosomal-dominant early-onset axonal Charcot-Marie-Tooth disease. Hum Mutat 2016;37:473–80.
2016
Hong YB, Joo J, Hyun YS, Kwak G, Choi YR, Yeo HK, Jwa DH, Kim EJ, Mo WM, Nam SH, Kim SM, Yoo JH, Koo H, Park HT, Chung KW, Choi BO. A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy. PLoS Genet. 2016 Feb 1;12(2):e1005829. doi: 10.1371/journal.pgen.1005829.
2016
Houlden H, Johnson J, Gardner-Thorpe C, Lashley T, Hernandez D, Worth P, Singleton AB, Hilton DA, Holton J, Revesz T, Davis MB, Giunti P, Wood NW. Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11. Nat Genet. 2007 Dec;39(12):1434-6. Epub 2007 Nov 25.
2007
Hu, D., Barajas-Martinez, H., Burashnikov, E., Springer, M., Wu, Y., Varro, A., Pfeiffer, R., Koopmann, T. T., Cordeiro, J. M., Guerchicoff, A., Pollevick, G. D., Antzelevitch, C. A mutation in the beta-3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ. Cardiovasc. Genet. 2: 270-278, 2009.
2009
Hudson G, Amati-Bonneau P, Blakely EL, Stewart JD, He L, Schaefer AM, Griffiths PG, Ahlqvist K, Suomalainen A, Reynier P, McFarland R, Turnbull DM, Chinnery PF, Taylor RW. Mutation of OPA1 causes dominant optic atrophy with external ophthalmoplegia, ataxia, deafness and multiple mitochondrial DNA deletions: a novel disorder of mtDNA maintenance. Brain. 2008 Feb;131(Pt 2):329-37. Epub 2007 Dec 7.
2008
Hughes, C. A.; Byrne, P. C.; Webb, S.; McMonagle, P.; Patterson, V.; Hutchinson, M.; Parfrey, N. A. : SPG15, a new locus for autosomal recessive complicated HSP on chromosome 14q. Neurology 56: 1230-1233, 2001.
2001
Huizing, M.; Iacobazzi, V.; IJlst, L.; Savelkoul, P.; Ruitenbeek, W.; van den Heuvel, L.; Indiveri, C.; Smeitink, J.; Trijbels, F; Wanders, R.; Palmieri, F. : Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient. Am. J. Hum. Genet. 61: 1239-1245, 1997.
1997
Hung RM, Yoon G, Hawkins CE, Halliday W, Biggar D, Vajsar J. Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord. 2010 Apr;20(4):238-40. Epub 2010 Mar 19.
2010
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2015
Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease. Neurology. 2006 Dec 12;67(11):2016-21.
2006
Huzé C, Bauché S, Richard P, Chevessier F, Goillot E, Gaudon K, Ben Ammar A, Chaboud A, Grosjean I, Lecuyer HA, Bernard V, Rouche A, Alexandri N, Kuntzer T, Fardeau M, Fournier E, Brancaccio A, Rüegg MA, Koenig J, Eymard B, Schaeffer L, Hantaï D. Identification of an agrin mutation that causes congenital myasthenia and affects synapse function. Am J Hum Genet. 2009 Aug;85(2):155-67. Epub 2009 Jul 23.
2009