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All publications related to disease Emery-Dreifuss muscular dystrophy, autosomal dominant. To link directly to a specific first author surname click on the required letter below.
BCFHKLMOPRSVW B Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Neurology 2007 () - PubMed: 17377071 Bonne G, Di Barletta MR, Varnous S, Bécane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K
Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy.
Nat Genet 1999 21(3) 285-288 PubMed: 10080180 Bonne G, Mercuri E, Muchir A, Urtizberea A, Bécane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene.
Ann Neurol 2000 48(2) 170-180 PubMed: 10939567 Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A
Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study.
Stroke 2003 34(4) 901-908 PubMed: 12649505 Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Am J Med Genet 2001 102(4) 359-367 PubMed: 11503164 Back to index C Colomer J, Iturriaga C, Bonne G, Schwartz K, Manilal S, Morris GE, Puche M, Fernández-Alvarez E
Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis.
Neuromuscul Disord 2002 12(1) 19-25 PubMed: 11731280 Back to index F Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML
Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene.
Neurology 2000 55(2) 275-280 PubMed: 10908904 Back to index H Hanisch F, Neudecker S, Wehnert M, Zierz S
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures]
Nervenarzt 2002 73(10) 1004-1011 PubMed: 12376891 Hong JS, Ki CS, Kim JW, Suh YL, Kim JS, Baek KK, Kim BJ, Ahn KJ, Kim DK
Cardiac dysrhythmias,cardiomyopathy and muscular dystrophy in patients with Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy type 1B.
J Korean Med Sci 2005 20(2) 283-290 PubMed: 15832002 Back to index K Kandert S, Wehnert M, Müller CR, Buendia B, Dabauvalle MC
Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene.
Eur J Cell Biol 2009 () - PubMed: 19589617 Kim HY, Ki CS, Kang SJ, Khang SK, Koh SH, Kim DW, Kim SH, Sung IH
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy.
Muscle Nerve 2008 38(4) 1336-1339 PubMed: 18816602 Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bönnemann CG, Korinthenberg R
p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria.
Ann Neurol 2005 57(1) 148-151 PubMed: 15622532 Back to index L Lassuthová P, Baránková L, Kraus J, Maríková T, Seeman P
Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene.
Pediatr Neurol 2009 41(2) 127-130 PubMed: 19589462 Liang WC, Yuo CY, Liu CY, Lee CS, Goto K, Hayashi YK, Jong YJ
Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.
J Formos Med Assoc 2007 106(2 Suppl) S27-S31 PubMed: 17493893 Back to index M Madej-Pilarczyk A, Kmieć T, Fidziańska A, Rękawek J, Niebrój-Dobosz I, Turska-Kmieć A, Nestorowicz K, Jóźwiak S, Hausmanowa-Petrusewicz I
Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation.
Eur J Paediatr Neurol 2008 () - PubMed: 18339564 Maioli MA, Marrosu G, Mateddu A, Solla E, Carboni N, Tacconi P, Lai C, Marrosu MG
A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype.
Muscle Nerve 2007 () - PubMed: 17701980 Mercuri E, Manzur AY, Jungbluth H, Bonne G, Muchir A, Sewry C, Schwartz K, Muntoni F
Early and severe presentation of autosomal dominant Emery-Dreifuss muscular dystrophy (EMD2).
Neurology 2000 54(8) 1704-1705 PubMed: 10762524 Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K
Extreme variability of phenotype in patients with an identical missense mutation in the lamin A/C gene: from congenital onset with severe phenotype to milder classic Emery-Dreifuss variant.
Arch Neurol 2004 61(5) 690-694 PubMed: 15148145 Muchir A, Medioni J, Laluc M, Massart C, Arimura T, van der Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G
Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations.
Muscle Nerve 2004 30(4) 444-450 PubMed: 15372542 Back to index O Onishi Y, Higuchi J, Ogawa T, Namekawa A, Hayashi H, Odakura H, Goto K, Hayashi YK
[The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene]
Rinsho Shinkeigaku 2002 42(2) 140-144 PubMed: 12424964 Back to index P Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, Mannarino S, Gambarin F, Favalli V, Grasso M, Agozzino M, Campana C, Gavazzi A, Febo O, Marini M, Landolina M, Mortara A, Piccolo G, Viganò M, Tavazzi L, Arbustini E
Long-term outcome and risk stratification in dilated cardiolaminopathies.
J Am Coll Cardiol 2008 52(15) 1250-1260 PubMed: 18926329 Back to index R Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
Am J Hum Genet 2000 66(4) 1407-1412 PubMed: 10739764 Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S
Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.
Am J Med Genet A 2008 146A(12) 1530-1542 PubMed: 18478590 Reichart B, Klafke R, Dreger C, Krüger E, Motsch I, Ewald A, Schäfer J, Reichmann H, Müller CR, Dabauvalle MC
Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation.
BMC Cell Biol 2004 5() 12-12 PubMed: 15053843 Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK
Laminopathies in Russian families.
Clin Genet 2008 74(2) 127-133 PubMed: 18564364 Back to index S Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Neuropathol Appl Neurobiol 2001 27(4) 281-290 PubMed: 11532159 Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P
Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study.
J Cardiovasc Magn Reson 2006 8(5) 723-730 PubMed: 16891232 Back to index V van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M
Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.
Neurology 2002 59(4) 620-623 PubMed: 12196663 van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP
High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics.
Am Heart J 2007 154(6) 1130-1139 PubMed: 18035086 Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanova-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
J Med Genet 2003 40(12) e132-e132 PubMed: 14684700 Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz S, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Neuromuscul Disord 2002 12(10) 958-963 PubMed: 12467752 Back to index W Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmüller H
Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy.
Neuromuscul Disord 2005 15(1) 40-44 PubMed: 15639119 Wessely R, Seidl S, Schömig A
Cardiac involvement in Emery-Dreifuss muscular dystrophy.
Clin Genet 2005 67(3) 220-223 PubMed: 15691357 Back to index This page was last modified: April 17 2009 14:28:35. |
