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Items: 1 to 20 of 103

1.

Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.

Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG.

Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2.

2.

[Familial myopathy with "cytoplasmic body" (or "spheroid") type inclusions, disclosed by respiratory insufficiency].

Chapon F, Viader F, Fardeau M, Tomé F, Daluzeau N, Berthelin C, Thénint JP, Lechevalier B.

Rev Neurol (Paris). 1989;145(6-7):460-5. Review. French.

PMID:
2552561
3.

RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity Among 17 Patients from a Portuguese Tertiary Centre.

Samões R, Oliveira J, Taipa R, Coelho T, Cardoso M, Gonçalves A, Santos R, Melo Pires M, Santos M.

J Neuromuscul Dis. 2017;4(1):67-76. doi: 10.3233/JND-160199.

PMID:
28269792
4.

Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene.

Jungbluth H, Zhou H, Hartley L, Halliger-Keller B, Messina S, Longman C, Brockington M, Robb SA, Straub V, Voit T, Swash M, Ferreiro A, Bydder G, Sewry CA, Müller C, Muntoni F.

Neurology. 2005 Dec 27;65(12):1930-5.

PMID:
16380615
5.

[Autosomal dominant distal myopathy with rimmed vacuoles and cytoplasmic inclusions: report of a family].

Uesaka Y, Nakamichi K, Kojima S, Ida M, Takagi A.

Rinsho Shinkeigaku. 1997 Jan;37(1):1-6. Japanese.

PMID:
9146065
6.

A series of West European patients with severe cardiac and skeletal myopathy associated with a de novo R406W mutation in desmin.

Dagvadorj A, Olivé M, Urtizberea JA, Halle M, Shatunov A, Bönnemann C, Park KY, Goebel HH, Ferrer I, Vicart P, Dalakas MC, Goldfarb LG.

J Neurol. 2004 Feb;251(2):143-9.

PMID:
14991347
7.

Vocal cord and pharyngeal weakness with autosomal dominant distal myopathy: clinical description and gene localization to 5q31.

Feit H, Silbergleit A, Schneider LB, Gutierrez JA, Fitoussi RP, Réyès C, Rouleau GA, Brais B, Jackson CE, Beckmann JS, Seboun E.

Am J Hum Genet. 1998 Dec;63(6):1732-42.

8.

Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin c-terminal alpha-helical segment.

Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, Squier W, Nagle JW, Goldfarb LG, Vicart P.

Muscle Nerve. 2003 Jun;27(6):669-75.

PMID:
12766977
9.

Myopathy with tubulin-reactive inclusions in two cats.

Shelton GD, Sturges BK, Lyons LA, Williams DC, Aleman M, Jiang Y, Mizisin AP.

Acta Neuropathol. 2007 Nov;114(5):537-42. Epub 2007 Mar 29.

PMID:
17393175
10.

The clinical and myopathological features of oculopharyngodistal myopathy in a Chinese family.

Lu H, Luan X, Yuan Y, Dong M, Sun W, Yan C.

Neuropathology. 2008 Dec;28(6):599-603. doi: 10.1111/j.1440-1789.2008.00924.x. Epub 2008 May 23. Erratum in: Neuropathology. 2009 Apr;29(2):209.

PMID:
18503509
11.

Desmin-related myopathy: clinical, electrophysiological, radiological, neuropathological and genetic studies.

Olivé M, Goldfarb L, Moreno D, Laforet E, Dagvadorj A, Sambuughin N, Martínez-Matos JA, Martínez F, Alió J, Farrero E, Vicart P, Ferrer I.

J Neurol Sci. 2004 Apr 15;219(1-2):125-37.

PMID:
15050448
12.

Episodic muscle pain, stiffness, and weakness associated with tubular aggregates and myoedema.

Mahjneh I, Lamminen A, Tuominen H.

Eur J Neurol. 2007 May;14(5):569-71.

PMID:
17437618
13.

Polysaccharide storage myopathy--case report and literature review.

Miladi MI, Feki I, Choyakh F, Ben Hmida M, Zouari N, Mhiri C.

Clin Neuropathol. 2005 May-Jun;24(3):126-32. Review.

PMID:
15943164
14.

Myoglobin: an essential hemoprotein in striated muscle.

Ordway GA, Garry DJ.

J Exp Biol. 2004 Sep;207(Pt 20):3441-6. Review.

15.

Myopathy with tubulin-reactive crystalline inclusions.

Vu TH, Hays AP, Tanji K, Younger D, Gundersen GG, Eastwood A, Braun CW, DiMauro S, Bonilla E.

Neurology. 2001 Jul 10;57(1):149-52.

PMID:
11445649
16.

Non-pathogenic protein aggregates in skeletal muscle in MLF1 transgenic mice.

Li ZF, Wu X, Jiang Y, Liu J, Wu C, Inagaki M, Izawa I, Mizisin AP, Engvall E, Shelton GD.

J Neurol Sci. 2008 Jan 15;264(1-2):77-86. Epub 2007 Sep 12.

PMID:
17854834
17.

Clinical and morphological phenotype of the filamin myopathy: a study of 31 German patients.

Kley RA, Hellenbroich Y, van der Ven PF, Fürst DO, Huebner A, Bruchertseifer V, Peters SA, Heyer CM, Kirschner J, Schröder R, Fischer D, Müller K, Tolksdorf K, Eger K, Germing A, Brodherr T, Reum C, Walter MC, Lochmüller H, Ketelsen UP, Vorgerd M.

Brain. 2007 Dec;130(Pt 12):3250-64. Review.

PMID:
18055494
18.

Distal myopathy with rimmed vacuoles.

Nonaka I, Murakami N, Suzuki Y, Kawai M.

Neuromuscul Disord. 1998 Jun;8(5):333-7.

PMID:
9673988
19.

Hyaline body myopathy: adulthood manifestations.

Rafay MF, Halliday W, Bril V.

Can J Neurol Sci. 2005 May;32(2):253-6.

PMID:
16018165
20.

Dominantly inherited cytoplasmic body myopathy in a Japanese kindred.

Abe K, Kobayashi K, Chida K, Kimura N, Kogure K.

Tohoku J Exp Med. 1993 Aug;170(4):261-72.

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