SEARCH

SEARCH BY CITATION

References

  • Aartsma-Rus A, Singh KH, Fokkema IF, Ginjaar IB, van Ommen GJ, den Dunnen JT, van der Maarel SM. 2010. Therapeutic exon skipping for dysferlinopathies? Eur J Hum Genet 18:889894.
  • Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH, Jr. 2001. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 57:271278.
  • Argov Z, Sadeh M, Mazor K, Soffer D, Kahana E, Eisenberg I, Mitrani-Rosenbaum S, Richard I, Beckmann J, Keers S, Bashir R, Bushby K, Rosenmann H. 2000. Muscular dystrophy due to dysferlin deficiency in Libyan Jews. Clinical and genetic features. Brain 123:12291237.
  • Bansal D, Miyake K, Vogel SS, Groh S, Chen CC, Williamson R, McNeil PL, Campbell KP. 2003. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423:168172.
  • Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ede S, Zatz M, Beckmann JS, Bushby K. 1998. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:3742.
  • Beroud C, Collod-Beroud G, Boileau C, Soussi T, Junien C. 2000. UMD (Universal mutation database): a generic software to build and analyze locus-specific databases. Hum Mutat 15:8694.
  • Beroud C, Hamroun D, Collod-Beroud G, Boileau C, Soussi T, Claustres M. 2005. UMD (Universal Mutation Database): 2005 update. Hum Mutat 26:184191.
  • Bushby KM. 2000. Dysferlin and muscular dystrophy. Acta Neurol Belg 100:142145.
  • Cagliani R, Fortunato F, Giorda R, Rodolico C, Bonaglia MC, Sironi M, D'Angelo MG, Prelle A, Locatelli F, Toscano A, Bresolin N, Comi GP. 2003. Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian population. Neuromuscul Disord 13:788795.
  • Collod-Beroud G, Le Bourdelles S, Ades L, Ala-Kokko L, Booms P, Boxer M, Child A, Comeglio P, De Paepe A, Hyland JC, Holman K, Kaitila I, Loeys B, Matyas G, Nuytinck L, Peltonen L, Rantamaki T, Robinson P, Steinmann B, Junien C, Beroud C, Boileau C. 2003. Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database. Hum Mutat 22:199208.
  • De Luna N, Freixas A, Gallano P, Caselles L, Rojas-Garcia R, Paradas C, Nogales G, Dominguez-Perles R, Gonzalez-Quereda L, Vilchez JJ, Marquez C, Bautista J, Guerrero A, Salazar JA, Pou A, Illa I, Gallardo E. 2007. Dysferlin expression in monocytes: a source of mRNA for mutation analysis. Neuromuscul Disord 17:6976.
  • den Dunnen JT, Antonarakis SE. 2000. Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:712.
  • Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. 2009. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 37:e67.
  • Dreszer TR, Karolchik D, Zweig AS, Hinrichs AS, Raney BJ, Kuhn RM, Meyer LR, Wong M, Sloan CA, Rosenbloom KR, Roe G, Rhead B, Pohl A, Malladi VS, Li CH, Learned K, Kirkup V, Hsu F, Harte RA, Guruvadoo L, Goldman M, Giardine BM, Fujita PA, Diekhans M, Cline MS, Clawson H, Barber GP, Haussler D, James Kent W. 2011. The UCSC Genome Browser database: extensions and updates 2011. Nucleic Acids Res.
  • Finn RD, Mistry J, Tate J, Coggill P, Heger A, Pollington JE, Gavin OL, Gunasekaran P, Ceric G, Forslund K, Holm L, Sonnhammer EL, Eddy SR, Bateman A. 2010. The Pfam protein families database. Nucleic Acids Res 38(Database issue):D211D22.
  • Foxton RM, Laval SH, Bushby KM. 2004. Characterisation of the dysferlin skeletal muscle promoter. Eur J Hum Genet 12:127131.
  • Frederic MY, Hamroun D, Faivre L, Boileau C, Jondeau G, Claustres M, Beroud C, Collod-Beroud G. 2008. A new locus-specific database (LSDB) for mutations in the TGFBR2 gene: UMD-TGFBR2. Hum Mutat 29:3338.
  • Frederic MY, Lalande M, Boileau C, Hamroun D, Claustres M, Beroud C, Collod-Beroud G. 2009. UMD-predictor, a new prediction tool for nucleotide substitution pathogenicity–application to four genes: FBN1, FBN2, TGFBR1, and TGFBR2. Hum Mutat 30:952959.
  • Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP. 2008. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients. Hum Mutat 29:258266.
  • Ho M, Gallardo E, McKenna-Yasek D, De Luna N, Illa I, Brown Jr RH. 2002. A novel, blood-based diagnostic assay for limb girdle muscular dystrophy 2B and Miyoshi myopathy. Ann Neurol 51:129133.
  • Illa I, De Luna N, Dominguez-Perles R, Rojas-Garcia R, Paradas C, Palmer J, Marquez C, Gallano P, Gallardo E. 2007. Symptomatic dysferlin gene mutation carriers: characterization of two cases. Neurology 68:12841289.
  • Illa I, Serrano-Munuera C, Gallardo E, Lasa A, Rojas-Garcia R, Palmer J, Gallano P, Baiget M, Matsuda C, Brown RH. 2001. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49:130134.
  • Khadilkar SV, Singh RK, Agarwal P, Krahn M, Levy N. 2008. Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunocytochemical, western blotting and genetic features. Neurol India 56:388390.
  • Klinge L, Aboumousa A, Eagle M, Hudson J, Sarkozy A, Vita G, Charlton R, Roberts M, Straub V, Barresi R, Lochmuller H, Bushby K. 2010. New aspects on patients affected by dysferlin deficient muscular dystrophy. J Neurol Neurosurg Psychiatry 81:946953.
  • Klinge L, Dean AF, Kress W, Dixon P, Charlton R, Muller JS, Anderson LV, Straub V, Barresi R, Lochmuller H, Bushby K. 2008. Late onset in dysferlinopathy widens the clinical spectrum. Neuromuscul Disord 18:288290.
  • Krahn M, Beroud C, Labelle V, Nguyen K, Bernard R, Bassez G, Figarella-Branger D, Fernandez C, Bouvenot J, Richard I, Ollagnon-Roman E, Bevilacqua JA, Salvo E, Attarian S, Chapon F, Pellissier JF, Pouget J, Hammouda el H, Laforet P, Urtizberea JA, Eymard B, Leturcq F, Levy N. 2009a. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 30:E345E375.
  • Krahn M, Borges A, Navarro C, Schuit R, Stojkovic T, Torrente Y, Wein N, Pecheux C, Levy N. 2009b. Identification of different genomic deletions and one duplication in the dysferlin gene using multiplex ligation-dependent probe amplification and genomic quantitative PCR. Genet Test Mol Biomarkers 13:439442.
  • Krahn M, Wein N, Bartoli M, Lostal W, Courrier S, Bourg-Alibert N, Nguyen K, Vial C, Streichenberger N, Labelle V, DePetris D, Pecheux C, Leturcq F, Cau P, Richard I, Levy N. 2010. A naturally occurring human minidysferlin protein repairs sarcolemmal lesions in a mouse model of dysferlinopathy. Sci Transl Med 2:50ra69.
  • Laval SH, Bushby KM. 2004. Limb-girdle muscular dystrophies–from genetics to molecular pathology. Neuropathol Appl Neurobiol 30:91105.
  • Lennon NJ, Kho A, Bacskai BJ, Perlmutter SL, Hyman BT, Brown RH, Jr. 2003. Dysferlin interacts with annexins A1 and A2 and mediates sarcolemmal wound-healing. J Biol Chem 278:5046650473.
  • Leshinsky-Silver E, Argov Z, Rozenboim L, Cohen S, Tzofi Z, Cohen Y, Wirguin Y, Dabby R, Lev D, Sadeh M. 2007. Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene. Neuromuscul Disord 17:950954.
  • Letunic I, Doerks T, Bork P. 2009. SMART 6: recent updates and new developments. Nucleic Acids Res 37(Database issue):D229D232.
  • Levy N, Wein N, Barthelemy F, Mouly V, Garcia L, Krahn M, Bartoli M. 2010. Therapeutic exon ‘switching’ for dysferlinopathies? Eur J Hum Genet 18:969970; author reply 971.
  • Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH, Jr. 1998. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:3136.
  • Mahjneh I, Bushby K, Pizzi A, Bashir R, Marconi G. 1996. Limb-girdle muscular dystrophy: a follow-up study of 79 patients. Acta Neurol Scand 94:177189.
  • Nguyen K, Bassez G, Bernard R, Krahn M, Labelle V, Figarella-Branger D, Pouget J, Hammouda el H, Beroud C, Urtizberea A, Eymard B, Leturcq F, Levy N. 2005. Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies. Hum Mutat 26:165.
  • Nguyen K, Bassez G, Krahn M, Bernard R, Laforet P, Labelle V, Urtizberea JA, Figarella-Branger D, Romero N, Attarian S, Leturcq F, Pouget J, Levy N, Eymard B. 2007. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 64:11761182.
  • Okahashi S, Ogawa G, Suzuki M, Ogata K, Nishino I, Kawai M. 2008. Asymptomatic sporadic dysferlinopathy presenting with elevation of serum creatine kinase. Typical distribution of muscle involvement shown by MRI but not by CT. Intern Med 47:305307.
  • Paradas C, Gonzalez-Quereda L, De Luna N, Gallardo E, Garcia-Consuegra I, Gomez H, Cabello A, Illa I, Gallano P. 2009. A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord 19:2125.
  • Patel P, Harris R, Geddes SM, Strehle EM, Watson JD, Bashir R, Bushby K, Driscoll PC, Keep NH. 2008. Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b. J Mol Biol 379:981990.
  • Pramono ZA, Lai PS, Tan CL, Takeda S, Yee WC. 2006. Identification and characterization of a novel human dysferlin transcript: dysferlin_v1. Hum Genet 120:410419.
  • Pramono ZA, Tan CL, Seah IA, See JS, Kam SY, Lai PS, Yee WC. 2009. Identification and characterisation of human dysferlin transcript variants: implications for dysferlin mutational screening and isoforms. Hum Genet 125:413420.
  • Salani S, Lucchiari S, Fortunato F, Crimi M, Corti S, Locatelli F, Bossolasco P, Bresolin N, Comi GP. 2004. Developmental and tissue-specific regulation of a novel dysferlin isoform. Muscle Nerve 30:366374.
  • Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrao L, Guimaraes A, Bronze-da-Rocha E. 2010. Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51. J Hum Genet 55:546549.
  • Seror P, Krahn M, Laforet P, Leturcq F, Maisonobe T. 2008. Complete fatty degeneration of lumbar erector spinae muscles caused by a primary dysferlinopathy. Muscle Nerve 37:410414.
  • Spuler S, Carl M, Zabojszcza J, Straub V, Bushby K, Moore SA, Bahring S, Wenzel K, Vinkemeier U, Rocken C. 2008. Dysferlin-deficient muscular dystrophy features amyloidosis. Ann Neurol 63:323328.
  • Stenson PD, Ball EV, Howells K, Phillips AD, Mort M, Cooper DN. 2009. The Human Gene Mutation Database: providing a comprehensive central mutation database for molecular diagnostics and personalized genomics. Hum Genomics 4:6972.
  • Tagawa K, Ogawa M, Kawabe K, Yamanaka G, Matsumura T, Goto K, Nonaka I, Nishino I, Hayashi YK. 2003. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. J Neurol Sci 211:2328.
  • Takahashi T, Aoki M, Tateyama M, Kondo E, Mizuno T, Onodera Y, Takano R, Kawai H, Kamakura K, Mochizuki H, Shizuka-Ikeda M, Nakagawa M, Yoshida Y, Akanuma J, Hoshino K, Saito H, Nishizawa M, Kato S, Saito K, Miyachi T, Yamashita H, Kawai M, Matsumura T, Kuzuhara S, Ibi T, Sahashi K, Nakai H, Kohnosu T, Nonaka I, Arahata K, Brown RH, Jr, Itoyama Y. 2003. Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype. Neurology 60:17991804.
  • Therrien C, Dodig D, Karpati G, Sinnreich M. 2006. Mutation impact on dysferlin inferred from database analysis and computer-based structural predictions. J Neurol Sci 250:7178.
  • Ueyama H, Kumamoto T, Horinouchi H, Fujimoto S, Aono H, Tsuda T. 2002. Clinical heterogeneity in dysferlinopathy. Intern Med 41:532536.
  • Urtizberea JA, Bassez G, Leturcq F, Nguyen K, Krahn M, Levy N. 2008. Dysferlinopathies. Neurol India 56:289297.
  • Vernengo L, Oliveira J, Krahn M, Vieira E, Santos R, Carrasco L, Negrao L, Panuncio A, Leturcq F, Labelle V, Bronze-da-Rocha E, Mesa R, Pizzarossa C, Levy N, Rodriguez MM. 2011. Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America. Neuromuscul Disord.
  • Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-Garcia R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I. 2005. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 62:12561259.
  • Walter MC, Braun C, Vorgerd M, Poppe M, Thirion C, Schmidt C, Schreiber H, Knirsch UI, Brummer D, Muller-Felber W, Pongratz D, Muller-Hocker J, Huebner A, Lochmuller H. 2003. Variable reduction of caveolin-3 in patients with LGMD2B/MM. J Neurol 250:14311438.
  • Wang B, Yang Z, Brisson BK, Feng H, Zhang Z, Welch E, Peltz S, Barton ER, Brown RH, Jr, Sweeney HL. 2010. Membrane blebbing as an assessment of functional rescue of dysferlin-deficient human myotubes via nonsense suppression. J Appl Physiol.
  • Weiler T, Bashir R, Anderson LV, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby CR, Wrogemann K. 1999. Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 8:871877.
  • Wein N, Avril A, Bartoli M, Beley C, Chaouch S, Laforet P, Behin A, Butler-Browne G, Mouly V, Krahn M, Garcia L, Levy N. 2010. Efficient bypass of mutations in dysferlin deficient patient cells by antisense-induced exon skipping. Hum Mutat 31:136142.
  • Wenzel K, Geier C, Qadri F, Hubner N, Schulz H, Erdmann B, Gross V, Bauer D, Dechend R, Dietz R, Osterziel KJ, Spuler S, Ozcelik C. 2007. Dysfunction of dysferlin-deficient hearts. J Mol Med 85:12031214.