Reference table (All references)



References
Year
PubMed Id
Pénisson-Besnier I, et al. (1998). Autosomal dominant late adult onset distal leg myopathy. Neuromsuc Disord 8:459-466.
1998
Pénisson-Besnier I, Talvinen K, Dumez C, Vihola A, Dubas F, Fardeau M, Hackman P, Carpen O and Udd B. Myotilinopathy in a late onset myopathy family. Neuromusc Disord 2006; 16:427-31.
2006
Palenzuela, L.; Andreu, A. L.; Gamez, J.; Vila, M. R.; Kunimatsu, T.; Meseguer, A.; Cervera, C.; Fernandez Cadenas, I.; van der Ven, P. F. M.; Nygaard, T. G.; Bonilla, E.; Hirano, M. : A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2. Neurology 61: 404-406, 2003.
2003
Palmio J, Sandell S, Suominen T, Penttilä S, Raheem O, Hackman P, Huovinen S, Haapasalo H, Udd B. Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family. Neuromuscul Disord. 2011 Aug;21(8):551-5. doi: 10.1016/j.nmd.2011.05.008.
2011
Pan TC, Zhang RZ, Pericak-Vance MA, Tandan R, Fries T, Stajich JM, Viles K, Vance JM, Chu ML, Speer MC. Missense mutation in a von Willebrand factor type A domain of the alpha 3(VI) collagen gene (COL6A3) in a family with Bethlem myopathy. Hum Mol Genet. 1998 May;7(5):807-12.
1998
Pan, T.-C.; Zhang, R.-Z.; Sudano, D. G.; Marie, S. K.; Bonnemann, C. G.; Chu, M.-L.: New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype. Am. J. Hum. Genet. 73: 355-369, 2003.
2003
Panza, E., Escamilla-Honrubia, J. M., Marco-Marin, C., Gougeard, N., De Michele, G., Brescia Morra, V., Liguori, R., Salviati, L., Donati, M. A., Cusano, R., Pippucci, T., Ravazzolo, R., Nemeth, A. H., Smithson, S., Davies, S., Hurst, J. A., Bordo, D., Rubio, V., Seri, M. ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism. (Letter) Brain 139: e3, 2016. Note: Electronic Article.
2016
Park, H. J., Hong, Y. B., Choi, Y.-C., Lee, J., Kim, E. J., Lee, J.-S., Mo, W. M., Ki, S. M., Kim, H. I., Kim, H. J., Hyun, Y. S., Hong, H. D., and 11 others. ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy. Ann. Neurol. 79: 231-243, 2016.
2016
Parkinson, N., Ince, P. G., Smith, M. O., Highley, R., Skibinski, G., Andersen, P. M., Morrison, K. E., Pall, H. S., Hardiman, O., Collinge, J., Shaw, P. J., Disher, E. M. C., MRC Proteomics in ALS Study and the FReJA Consortium. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 67: 1074-1077, 2006.
2006
Passos-Bueno MR, Moreira ES, Vainzof M, Marie SK, Zatz M. Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD. Hum Mol Genet. 1996 Jun;5(6):815-20.
1996
Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask BJ, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, et al. The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nat Genet. 1992 Jun;1(3):159-65.
1992
Patel, H.; Cross, H.; Proukakis, C.; Hershberger, R.; Bork, P.; Ciccarelli, F. D.; Patton, M. A.; McKusick, V. A.; Crosby, A. H. : SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nature Genet. 31: 347-348, 2002.
2002
Pedroso J.L., Rocha C.R., Macedo-Souza L.I., et al. Mutation in PNKP presenting initially as axonal Charcot-Marie-Tooth disease. Neurol Genet 2015;1:e30.
2015
Peeters, K., Litvinenko, I., Asselbergh, B., Almeida-Souza, L., Chamova, T., Geuens, T., Ydens, E., Zimon, M., Irobi, J., De Vriendt, E., De Winter, V., Ooms, T., Timmerman, V., Tournev, I., Jordanova, A. Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritance. Am. J. Hum. Genet. 92: 955-964, 2013.
2013
Pehlivan D, Coban Akdemir Z, Karaca E, Bayram Y, Jhangiani S, Yildiz EP, Muzny D, Uluc K, Gibbs RA; Baylor-Hopkins Center for Mendelian Genomics, Elcioglu N, Lupski JR, Harel T. Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis. Hum Genet. 2015 Jun;134(6):671-3. doi: 10.1007/s00439-015-1548-3. Epub 2015 Apr 17.
2015
Pelin K, Hilpela P, Donner K, Sewry C, Akkari PA, Wilton SD, Wattanasirichaigoon D, Bang ML, Centner T, Hanefeld F, Odent S, Fardeau M, Urtizberea JA, Muntoni F, Dubowitz V, Beggs AH, Laing NG, Labeit S, de la Chapelle A, Wallgren-Pettersson C. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A. 1999 Mar 2;96(5):2305-10.
1999
Pellegrino JE, Rebbeck TR, Brown MJ, Bird TD, Chance PF. Mapping of hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) to distal chromosome 17q. Neurology. 1996 Apr;46(4):1128-32.
1996
Penttilä S, Jokela M, Hackman P, Maija Saukkonen A, Toivanen J, Udd B. Autosomal dominant late-onset spinal motor neuronopathy is linked to a new locus on chromosome 22q11.2-q13.2. Eur J Hum Genet. 2012 Nov;20(11):1193-6. doi: 10.1038/ejhg.2012.76. Epub 2012 Apr 25.
2012
Pericak-Vance, M. A.; Speer, M. C.; Lennon, F.; West, S. G.; Menold, M. M.; Stajich, J. M.; Wolpert, C. M.; Slotterbeck, B. D.; Saito, M.; Tim, R. W.; Rozear, M. P.; Middleton, L. T.; Tsuji, S.; Vance, J. M. : Confirmation of a second locus for CMT2 and evidence for additional genetic heterogeneity. Neurogenetics 1: 89-93, 1997.
1997
Petrov, A.; Pirozhkova, I.; Carnac, G.; Laoudj, D.; Lipinski, M.; Vassetzky, Y. S. : Chromatin loop domain organization within the 4q35 locus in facioscapulohumeral dystrophy patients versus normal human myoblasts. Proc. Nat. Acad. Sci. 103: 6982-6987, 2006.
2006
Piccolo F, Jeanpierre M, Leturcq F, Dode C, Azibi K, Toutain A, Merlini L, Jarre L, Navarro C, Krishnamoorthy R, Tome FM, Urtizberea JA, Beckmann JS, Campbell KP, Kaplan JC. A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. Hum Mol Genet. 1996 Dec;5(12):2019-22.
1996
Piccolo F, Roberds SL, Jeanpierre M, Leturcq F, Azibi K, Beldjord C, Carrie A, Recan D, Chaouch M, Reghis A, et al. Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity. Nat Genet. 1995 Jun;10(2):243-5. Erratum in: Nat Genet 1995 Sep 11(1):104.
1995
Pierson, T. M., Adams, D., Bonn, F., Martinelli, P., Cherukuri, P. F., Teer, J. K., Hansen, N. F., Cruz, P., Mullikin, J. C., Blakesley, R. W., Golas, G., Kwan, J., and 9 others. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 7: e1002325, 2011. Note: Electronic Article.
2011
Pigg M, Jagell S, Sillen A, Weissenbach J, Gustavson KH, Wadelius C. The Sjogren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. Nat Genet. 1994 Dec;8(4):361-4. Erratum in: Nat Genet 1995 Apr;9(4):451.
1994
Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell. 2001 May 18;105(4):511-9.
2001
Poetter K, Jiang H, Hassanzadeh S, Master SR, Chang A, Dalakas MC, Rayment I, Sellers JR, Fananapazir L, Epstein ND. Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle. Nat Genet. 1996 May;13(1):63-9.
1996
Preisler N, Lukacs Z, Vinge L, Madsen KL, Husu E, Hansen RS, Duno M, Andersen H, Laub M, Vissing J. Late-onset Pompe disease is prevalent in unclassified limb-girdle muscular dystrophies. Mol Genet Metab. 2013 Nov;110(3):287-9. doi: 10.1016/j.ymgme.2013.08.005. Epub 2013 Aug 15.
2015
Priest JM, Fischbeck KH, Nouri N, Keats BJ. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics. 1995 Sep 20;29(2):409-12.
1995
Priori, S. G.; Napolitano, C.; Tiso, N.; Memmi, M.; Vignati, G.; Bloise, R.; Sorrentino, V.; Danieli, G. A.: Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103: 196-200, 2001.
2001
Priori, S. G.; Pandit, S. V.; Rivolta, I.; Berenfeld, O.; Ronchetti, E.; Dhamoon, A.; Napolitano, C.; Anumonwo, J.; Raffaele di Barletta, M.; Gudapakkam, S.; Bosi, G.; Stramba-Badiale, M.; Jalife, J. : A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ. Res. 96: 800-807, 2005.
2005
Pt√°cek LJ, George AL Jr, Barchi RL, Griggs RC, Riggs JE, Robertson M, Leppert MF. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 1992 May;8(5):891-7.
1992
Ptacek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, Robertson M, Leppert MF. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 1991 Nov 29;67(5):1021-7.
1991
Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL Jr, Barchi RL, Robertson M, Leppert MF. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993 Mar;33(3):300-7.
1993
Ptacek LJ, Tawil R, Griggs RC, Meola G, McManis P, Barohn RJ, Mendell JR, Harris C, Spitzer R, Santiago F, et al. Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 1994 Aug;44(8):1500-3.
1994
Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb;42(2):431-3.
1992
Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet. 1991 Oct;49(4):851-4.
1991
Puckelwartz MJ, Kessler EJ, Kim G, Dewitt MM, Zhang Y, Earley JU, Depreux FF, Holaska J, Mewborn SK, Pytel P, McNally EM. Nesprin-1 mutations in human and murine cardiomyopathy. J Mol Cell Cardiol. 2010 Apr;48(4):600-8. Epub 2009 Nov 24.
2010
Puls I, Jonnakuty C, LaMonte BH, Holzbaur EL, Tokito M, Mann E, Floeter MK, Bidus K, Drayna D, Oh SJ, Brown RH Jr, Ludlow CL, Fischbeck KH. Mutant dynactin in motor neuron disease. Nat Genet. 2003 Apr;33(4):455-6. Epub 2003 Mar 10.
2003
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet. 1996 Nov;14(3):269-76.
1996
Punetha J, Kesari A, Hoffman EP, Gos M, Kami?ska A, Kostera-Pruszczyk A, Hausmanowa-Petrusewicz I, Hu Y, Zou Y, Bönnemann CG, J?drzejowska M. Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects. Muscle Nerve. 2016 Jun 27. doi: 10.1002/mus.25232.
2016