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Items: 1 to 20 of 91

1.

Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy.

Alonso-Jimenez A, Kroon RHMJM, Alejaldre-Monforte A, Nuñez-Peralta C, Horlings CGC, van Engelen BGM, Olivé M, González L, Verges-Gil E, Paradas C, Márquez C, Garibaldi M, Gallano P, Rodriguez MJ, Gonzalez-Quereda L, Dominguez Gonzalez C, Vissing J, Fornander F, Eisum AV, García-Sobrino T, Pardo J, García-Figueiras R, Muelas N, Vilchez JJ, Kapetanovic S, Tasca G, Monforte M, Ricci E, Gomez MT, Bevilacqua JA, Diaz-Jara J, Zamorano II, Carlier RY, Laforet P, Pelayo-Negro A, Ramos-Fransi A, Martínez A, Marini-Bettolo C, Straub V, Gutiérrez G, Stojkovic T, Martín MA, Morís G, Fernández-Torrón R, Lopez De Munaín A, Cortes-Vicente E, Querol L, Rojas-García R, Illa I, Diaz-Manera J.

J Neurol Neurosurg Psychiatry. 2019 May;90(5):576-585. doi: 10.1136/jnnp-2018-319578. Epub 2018 Dec 8.

PMID:
30530568
2.

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.

Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium.

J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7.

3.

Intranuclear Aggregates Precede Clinical Onset in Oculopharyngeal Muscular Dystrophy.

van der Sluijs BM, Raz V, Lammens M, van den Heuvel LP, Voermans NC, van Engelen BG.

J Neuromuscul Dis. 2016 Mar 3;3(1):101-109.

PMID:
27854203
4.

Characterization of PABPN1 expansion mutations in a large cohort of Mexican patients with oculopharyngeal muscular dystrophy (OPMD).

Cruz-Aguilar M, Guerrero-de Ferran C, Tovilla-Canales JL, Nava-Castañeda A, Zenteno JC.

J Investig Med. 2017 Mar;65(3):705-708. doi: 10.1136/jim-2016-000184. Epub 2016 Dec 15.

PMID:
27980005
5.

Muscular involvement assessed by MRI correlates to motor function measurement values in oculopharyngeal muscular dystrophy.

Fischmann A, Gloor M, Fasler S, Haas T, Rodoni Wetzel R, Bieri O, Wetzel S, Heinimann K, Scheffler K, Fischer D.

J Neurol. 2011 Jul;258(7):1333-40. doi: 10.1007/s00415-011-5937-9. Epub 2011 Feb 22.

PMID:
21340522
6.

Nuclear entrapment and extracellular depletion of PCOLCE is associated with muscle degeneration in oculopharyngeal muscular dystrophy.

Raz V, Sterrenburg E, Routledge S, Venema A, van der Sluijs BM, Trollet C, Dickson G, van Engelen BG, van der Maarel SM, Antoniou MN.

BMC Neurol. 2013 Jul 1;13:70. doi: 10.1186/1471-2377-13-70.

7.

Functional impact of an oculopharyngeal muscular dystrophy mutation in PABPN1.

García-Castañeda M, Vega AV, Rodríguez R, Montiel-Jaen MG, Cisneros B, Zarain-Herzberg A, Avila G.

J Physiol. 2017 Jul 1;595(13):4167-4187. doi: 10.1113/JP273948. Epub 2017 Apr 25.

8.

Dropped-head in recessive oculopharyngeal muscular dystrophy.

Garibaldi M, Pennisi EM, Bruttini M, Bizzarri V, Bucci E, Morino S, Talerico C, Stoppacciaro A, Renieri A, Antonini G.

Neuromuscul Disord. 2015 Nov;25(11):869-72. doi: 10.1016/j.nmd.2015.08.011. Epub 2015 Sep 7.

PMID:
26494409
9.

Involvement of pelvic girdle and proximal leg muscles in early oculopharyngeal muscular dystrophy.

van der Sluijs BM, Lassche S, Knuiman GJ, Kusters B, Heerschap A, Hopman M, Schreuder TH, van Engelen BGM, Voermans NC.

Neuromuscul Disord. 2017 Dec;27(12):1099-1105. doi: 10.1016/j.nmd.2017.09.010. Epub 2017 Sep 28.

PMID:
29102430
10.

A decline in PABPN1 induces progressive muscle weakness in oculopharyngeal muscle dystrophy and in muscle aging.

Anvar SY, Raz Y, Verway N, van der Sluijs B, Venema A, Goeman JJ, Vissing J, van der Maarel SM, 't Hoen PA, van Engelen BG, Raz V.

Aging (Albany NY). 2013 Jun;5(6):412-26.

11.

PABPN1 (GCN)11 as a Dominant Allele in Oculopharyngeal Muscular Dystrophy -Consequences in Clinical Diagnosis and Genetic Counselling.

Richard P, Trollet C, Gidaro T, Demay L, Brochier G, Malfatti E, Tom FM, Fardeau M, Lafor P, Romero N, Martin-N ML, Sol G, Ferrer-Monasterio X, Saint-Guily JL, Eymard B.

J Neuromuscul Dis. 2015 Jun 4;2(2):175-180.

12.

Oculopharyngeal muscular dystrophy as a paradigm for muscle aging.

Raz Y, Raz V.

Front Aging Neurosci. 2014 Nov 10;6:317. doi: 10.3389/fnagi.2014.00317. eCollection 2014. Review.

13.

Atrophy, fibrosis, and increased PAX7-positive cells in pharyngeal muscles of oculopharyngeal muscular dystrophy patients.

Gidaro T, Negroni E, Perié S, Mirabella M, Lainé J, Lacau St Guily J, Butler-Browne G, Mouly V, Trollet C.

J Neuropathol Exp Neurol. 2013 Mar;72(3):234-43. doi: 10.1097/NEN.0b013e3182854c07.

PMID:
23399899
14.

[Preferential distal muscle involvement in case of oculopharyngeal muscular dystrophy with (GCG) 13 expansion].

Nakashima D, Nakajima H, Ishida S, Sugino M, Kimura F, Hanafusa T.

Rinsho Shinkeigaku. 2003 Sep;43(9):560-3. Japanese.

PMID:
14727564
15.

PABPN1 gene therapy for oculopharyngeal muscular dystrophy.

Malerba A, Klein P, Bachtarzi H, Jarmin SA, Cordova G, Ferry A, Strings V, Espinoza MP, Mamchaoui K, Blumen SC, St Guily JL, Mouly V, Graham M, Butler-Browne G, Suhy DA, Trollet C, Dickson G.

Nat Commun. 2017 Mar 31;8:14848. doi: 10.1038/ncomms14848.

16.

Two different PABPN1 expanded alleles in a Mexican population with oculopharyngeal muscular dystrophy arising from independent founder effects.

Rivera D, Mejia-Lopez H, Pompa-Mera EN, Villanueva-Mendoza C, Nava-Castañeda A, Garnica-Hayashi L, Cuevas-Covarrubias S, Zenteno JC.

Br J Ophthalmol. 2008 Jul;92(7):998-1002. doi: 10.1136/bjo.2007.131482.

PMID:
18577654
17.

Study of a Taiwanese family with oculopharyngeal muscular dystrophy.

Kuo HC, Chen CM, Lee-Chen GJ, Hu FJ, Chu CC, Liou CW, Huang CC.

J Neurol Sci. 2009 Mar 15;278(1-2):21-4. doi: 10.1016/j.jns.2008.11.001. Epub 2008 Dec 20.

PMID:
19101703
18.

A de novo PABPN1 germline mutation in a patient with oculopharyngeal muscular dystrophy.

Gürtler N, Plasilova M, Podvinec M, Boesch N, Müller H, Heinimann K.

Laryngoscope. 2006 Jan;116(1):111-4.

PMID:
16481821
19.

Oculopharyngeal Muscular Dystrophy and Inherited Retinal Dystrophy in Bukhara Jews Due to Linked Mutations in the PABPN1 and NRL Genes.

Braverman I, Blumen SC, Newman H, Rizel L, Khayat M, Hanna R, St Guily JL, Tiosano B, Ben-Yosef T.

Genet Test Mol Biomarkers. 2017 Jul;21(7):450-453. doi: 10.1089/gtmb.2016.0429. Epub 2017 Jun 7.

PMID:
28590779
20.

Novel mouse models of oculopharyngeal muscular dystrophy (OPMD) reveal early onset mitochondrial defects and suggest loss of PABPN1 may contribute to pathology.

Vest KE, Phillips BL, Banerjee A, Apponi LH, Dammer EB, Xu W, Zheng D, Yu J, Tian B, Pavlath GK, Corbett AH.

Hum Mol Genet. 2017 Sep 1;26(17):3235-3252. doi: 10.1093/hmg/ddx206.

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