Reference table (All references)



References
Year
PubMed Id
Faber, C. G., Hoeijmakers, J. G. J., Ahn, H.-S., Cheng, X., Han, C., Choi, J.-S., Estacion, M., Lauria, G., Vanhoutte, E. K., Gerrits, M. M., Dib-Hajj, S., Drenth, J. P. H., Waxman, S. G., Merkies, I. S. J. Gain of function Na(v)1.7 mutations in idiopathic small fiber neuropathy. Ann. Neurol. 71: 26-39, 2012.
2012
Farazi Fard, M. A., Rebelo, A. P., Buglo, E., Nemati, H., Dastsooz, H., Gehweiler, I., Reich, S., Reichbauer, J., Quintans, B., Ordonez-Ugalde, A., Cortese, A., Courel, S., and 30 others. Truncating mutations in UBAP1 cause hereditary spastic paraplegia. Am. J. Hum. Genet. 104: 767-773, 2019. Note: Erratum: Am. J. Hum. Genet. 104: 1251 only, 2019.
2019
Fassone E, Taanman JW, Hargreaves IP, Sebire NJ, Cleary MA, Burch M, Rahman S. Mutations in the mitochondrial complex I assembly factor NDUFAF1 cause fatal infantile hypertrophic cardiomyopathy. J Med Genet. 2011 Oct;48(10):691-7.
2011
Fatkin, D.; MacRae, C.; Sasaki, T.; Wolff, M. R.; Porcu, M.; Frenneaux, M.; Atherton, J.; Vidaillet, H. J., Jr.; Spudich, S.; De Girolami, U.; Seidman, J. G.; Seidman, C. E. :Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New Eng. J. Med. 341: 1715-1724, 1999.
1999
Fattahi Z, Kahrizi K, Nafissi S, Fadaee M, Abedini SS, Kariminejad A, Akbari MR, Najmabadi H. Report of a patient with limb-girdle muscular dystrophy, ptosis and ophthalmoparesis caused by plectinopathy. Arch Iran Med. 2015 Jan;18(1):60-4. doi: 0151801/AIM.0014.
2015
Fecto, F., Yan, J., Vemula, S. P., Liu, E., Yang, Y., Chen, W., Zheng, J. G., Shi, Y., Siddique, N., Arrat, H., Donkervoort, S., Ajroud-Driss, S., Sufit, R. L., Heller, S. L., Deng, H.-X., Siddique, T. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 68: 1440-1446.
2011
Feichtinger RG, Mucha BE, Hengel H, Orfi Z, Makowski C, Dort J, D'Anjou G, Nguyen TTM, Buchert R, Juenger H, Freisinger P, Baumeister S, Schoser B, Ahting U, Keimer R, Nguyen CE, Fabre P, Gauthier J, Miguet M, Lopes F, AlHakeem A, AlHashem A, Tabarki B, Kandaswamy KK, Bauer P, Steinbacher P, Prokisch H, Sturm M, Strom TM, Ellezam B, Mayr JA, Schöls L, Michaud JL, Campeau PM, Haack TB, Dumont NA. Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet Med. 2019 May 16. doi: 10.1038/s41436-019-0532-z. [Epub ahead of print]
2019
Feit, H.; Silbergleit, A.; Schneider, L. B.; Gutierrez, J. A.; Fitoussi, R.-P.; Reyes, C.; Rouleau, G. A.; Brais, B.; Jackson, C. E.; Beckmann, J. S.; Seboun, E. : Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31. Am. J. Hum. Genet. 63: 1732-1742, 1998.
1998
Fernet, M.; Gribaa, M.; Salih, M. A. M.; Seidahmed, M. Z.; Hall, J.; Koenig, M. : Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum. Molec. Genet. 14: 307-318, 2005.
2005
Ferreiro A, Mezmezian M, Olivé M, Herlicoviez D, Fardeau M, Richard P, Romero NB. Telethonin-deficiency initially presenting as a congenital muscular dystrophy. Neuromuscul Disord. 2011 Jun;21(6):433-8. Epub 2011 May 6.
2011
Ferreiro, A.; Ceuterick-de Groote, C.; Marks, J. J.; Goemans, N.; Schreiber, G.; Hanefeld, F.; Fardeau, M.; Martin, J.-J.; Goebel, H. H.; Richard, P.; Guicheney, P.; Bonnemann, C. G. : Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N gene. Ann. Neurol. 55: 676-686, 2004.
2004
Ferreiro, A.; Monnier, N.; Romero, N. B.; Leroy, J.-P.; Bonnemann, C.; Haenggeli, C.-A.; Straub, V.; Voss, W. D.; Nivoche, Y.; Jungbluth, H.; Lemainque, A.; Voit, T.; Lunardi, J.; Fardeau, M.; Guicheney, P. : A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann. Neurol. 51: 750-759, 2002.
2002
Ferreiro, A.; Quijano-Roy, S.; Pichereau, C.; Moghadaszadeh, B.; Goemans, N.; Bonnemann, C.; Jungbluth, H.; Straub, V.; Villanova, M.; Leroy, J.-P.; Romero, N. B.; Martin, J.-J.; Muntoni, F.; Voit, T.; Estournet, B.; Richard, P.; Fardeau, M.; Guicheney, P. : Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am. J. Hum. Genet. 71: 739-749, 2002
2002
Fichtman B, Zagairy F, Biran N, Barsheshet Y, Chervinsky E, Ben Neriah Z, Shaag A, Assa M, Elpeleg O, Harel A, Spiegel R. Combined loss of LAP1B and LAP1C results in an early onset multisystemic , nuclear envelopathy. Nat Commun. 2019 Feb 5;10(1):605. doi: 10.1038/s41467-019-08493-7.
2019
Fink JK, Wu CT, Jones SM, Sharp GB, Lange BM, Lesicki A, Reinglass T, Varvil T, Otterud B, Leppert M. Autosomal dominant familial spastic paraplegia: tight linkage to chromosome 15q. Am J Hum Genet. 1995 Jan;56(1):188-92.
1995
Finocchiaro G, Taroni F, Rocchi M, Martin AL, Colombo I, Tarelli GT, DiDonato S. cDNA cloning, sequence analysis, and chromosomal localization of the gene for human carnitine palmitoyltransferase. Proc Natl Acad Sci U S A. 1991 Jan 15;88(2):661-5. Erratum in: Proc Natl Acad Sci U S A. 1991 Dec 1;88(23):10981.
1991
Finsterer J, Stöllberger C, Hasun M, Riedhammer K, Wagner M. Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T. Case Rep Cardiol. 2020;2020:5128069. Published 2020 May 13. doi:10.1155/2020/5128069
2020
Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, et al. Localization of the gene for X-linked spinal muscular atrophy. Neurology. 1986 Dec;36(12):1595-8.
1986
Fischer D, Herasse M, Bitoun M, Barrag²°n-Campos HM, Chiras J, Lafor²™t P, Fardeau M, Eymard B, Guicheney P, Romero NB. Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain. 2006 Jun;129(Pt 6):1463-9. Epub 2006 Apr 3.
2006
Fischer J, Lefevre C, Morava E, Mussini J M, Laforet P, Negre-Salvayre A, Lathrop M, Salvayre R. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy. Nat Genet 2007; 39: 28-30.
2007
Flanigan K, Gardner K, Alderson K, Galster B, Otterud B, Leppert MF, Kaplan C, Ptacek LJ. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): clinical description and genetic localization to chromosome 16q22.1. Am J Hum Genet. 1996 Aug;59(2):392-9.
1996
Fogel, B. L., Hanson, S. M., Becker, E. B. E. Do mutations in the murine ataxia gene TRPC3 cause cerebellar ataxia in humans? Mov. Disord. 30: 284-286, 2015.
2015
Foley AR, Zou Y, Dunford JE, Rooney J, Chandra G, Xiong H, Straub V, Voit T, Romero N, Donkervoort S, Hu Y, Markello T, Horn A, Qebibo L, Dastgir J, Meilleur KG, Finkel RS, Fan Y, Mamchaoui K, Duguez S, Nelson I, Laporte J, Santi M, Malfatti E, Maisonobe T, Touraine P, Hirano M, Hughes I, Bushby K, Oppermann U, Böhm J, Jaiswal JK, Stojkovic T, Bönnemann CG. GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome. Ann Neurol. 2020 Aug;88(2):332-347. doi: 10.1002/ana.25772. Epub 2020 Jun 18. PMID: 32403198; PMCID: PMC7496979.
2020
Fontaine B, Davoine CS, Durr A, Paternotte C, Feki I, Weissenbach J, Hazan J, Brice A. A new locus for autosomal dominant pure spastic paraplegia, on chromosome 2q24-q34. Am J Hum Genet. 2000 Feb;66(2):702-7.
2000
Fontaine B, Khurana TS, Hoffman EP, Bruns GA, Haines JL, Trofatter JA, Hanson MP, Rich J, McFarlane H, Yasek DM, et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 1990 Nov 16;250(4983):1000-2.
1990
Fontaine B, Vale-Santos J, Jurkat-Rott K, Reboul J, Plassart E, Rime CS, Elbaz A, Heine R, Guimaraes J, Weissenbach J, et al. Mapping of the hypokalaemic periodic paralysis (HypoPP) locus to chromosome 1q31-32 in three European families. Nat Genet. 1994 Mar;6(3):267-72.
1994
Foroud, T., Pankratz, N., Batchman, A. P., Pauciulo, M. W., Vidal, R., Miravalle, L., Goebel, H. H., Cushman, L. J., Azzarelli, B., Horak, H., Farlow, M., Nichols, W. C. A mutation in myotilin causes spheroid body myopathy. Neurology 65: 1936-1940, 2005.
2005
Fragaki K., Chaussenot A., Boutron A., et al. Severe defect in mitochondrial complex I assembly with mtDNA deletions in ACAD9-deficient mild myopathy. Muscle Nerve 2016; doi:10.1002/mus.25262
2016
Freed AS, Weiss MD, Malouf EA, Hisama FM. CNTNAP1 mutations in an adult with Charcot Marie Tooth disease. Muscle Nerve. 2019;60(5):E28-E30. doi:10.1002/mus.26658
2019
Freischmidt, A., Wieland, T., Richter, B., Ruf, W., Schaeffer, V., Muller, K., Marroquin, N., Nordin, F., Hubers, A., Weydt, P., Pinto, S., Press, R., and 28 others. Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia. Nature Neurosci. 18: 631-636, 2015.
2015
Freneaux, E.; Sheffield, V. C.; Molin, L.; Shires, A.; Rhead, W. J. : Glutaric acidemia type II: heterogeneity in beta-oxidation flux, polypeptide synthesis, and complementary DNA mutations in the alpha-subunit of electron transfer flavoprotein in eight patients. J. Clin. Invest. 90: 1679-1686, 1992.
1992
Freyer, C., Stranneheim, H., Naess, K., Mourier, A., Felser, A., Maffezzini, C., Lesko, N., Bruhn, H., Engvall, M., Wibom, R., Barbaro, M., Hinze, Y., Magnusson, M., Andeer, R., Zetterstrom, R. H., von Dobeln, U., Wredenberg, A., Wedell, A. Rescue of primary ubiquinone deficiency due to a novel COQ7 defect using 2,4-dihydroxybensoic acid. J. Med. Genet. 52: 779-783, 2015.
2015
Friedrich U, Brunner H, Smeets D, Lambermon E, Ropers HH. Three-point linkage analysis employing C3 and 19cen markers assigns the myotonic dystrophy gene to 19q. Hum Genet. 1987 Mar;75(3):291-3.
1987
Frosk, P., Weiler, T., Nylen, E., Sudha, T., Greenberg, C. R., Morgan, K., Fujiwara, T. M., Wrogemann, K. Limb-girdle muscular dystrophy type 2H associated with mutation in TRIM32, a putative E3-ubiquitin-ligase gene. Am. J. Hum. Genet. 70: 663-672, 2002.
2002
Fu, J., Ma, M., Song, J., Pang, M., Yang, L., Li, G., Zhang, J. Novel mutations in DPM3 cause dystroglycanopathy with central nervous system involvement. (Letter) Clin. Genet. 96: 590-591, 2019. [PubMed: 31469168, related citations]
2019
Fu, Y.-H.; Pizzuti, A.; Fenwick, R. G., Jr.; King, J.; Rajnarayan, S.; Dunne, P. W.; Dubel, J.; Nasser, G. A.; Ashizawa, T.; de Jong, P.; Wieringa, B.; Korneluk, R.; Perryman, M. B.; Epstein, H. F.; Caskey, C. T. : An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255: 1256-1258, 1992.
1992
Fujigasaki, H.; Verma, I. C.; Camuzat, A.; Margolis, R. L.; Zander, C.; Lebre, A.-S.; Jamot, L.; Saxena, R.; Anand, I.; Holmes, S. E.; Ross, C. A.; Durr, A.; Brice, A. : SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neurol. 49: 117-121, 2001.
2001
Fujii J, Otsu K, Zorzato F, de Leon S, Khanna VK, Weiler JE, O'Brien PJ, MacLennan DH. Identification of a mutation in porcine ryanodine receptor associated with malignant hyperthermia. Science. 1991 Jul 26;253(5018):448-51.
1991
Fulizio, L.; Nascimbeni, A. C.; Fanin, M.; Piluso, G.; Politano, L.; Nigro, V.; Angelini, C. : Molecular and muscle pathology in a series of caveolinopathy patients. Hum. Mutat. 25: 82-89, 2005.
2005