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Items: 1 to 20 of 564

1.

Paraspinal amyotrophy in DNM-2-related centronuclear myopathy.

Kakiuchi K, Unoda K, Nakajima H, Nishino I, Arawaka S.

J Neurol Sci. 2019 Oct 16;407:116537. doi: 10.1016/j.jns.2019.116537. [Epub ahead of print] No abstract available.

PMID:
31655408
2.

Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.

Muñoz XM, Buono S, Koebel P, Laporte J, Cowling BS.

Hum Mol Genet. 2019 Oct 19. pii: ddz249. doi: 10.1093/hmg/ddz249. [Epub ahead of print]

PMID:
31628461
3.

Novel SPEG variant cause centronuclear myopathy in China.

Tang J, Ma W, Chen Y, Jiang R, Zeng Q, Tan J, Jiang H, Li Q, Zhang VW, Wang J, Tang H, Luo L.

J Clin Lab Anal. 2019 Oct 18:e23054. doi: 10.1002/jcla.23054. [Epub ahead of print]

PMID:
31625632
4.

X-linked myotubular myopathy and pulmonary blebs: Not just a muscle disorder.

Graham RJ, Ward E.

Muscle Nerve. 2019 Sep 8. doi: 10.1002/mus.26697. [Epub ahead of print] No abstract available.

PMID:
31495930
5.

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis.

Graham RJ, Muntoni F, Hughes I, Yum SW, Kuntz NL, Yang ML, Byrne BJ, Prasad S, Alvarez R, Genetti CA, Haselkorn T, James ES, LaRusso LB, Noursalehi M, Rico S, Beggs AH.

Arch Dis Child. 2019 Sep 4. pii: archdischild-2019-317910. doi: 10.1136/archdischild-2019-317910. [Epub ahead of print]

PMID:
31484632
6.

A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission.

Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M.

Neuromuscul Disord. 2019 Aug;29(8):614-617. doi: 10.1016/j.nmd.2019.07.001. Epub 2019 Jul 5.

PMID:
31378432
7.

X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype?

Carstens PO, Schwaibold EMC, Schregel K, Obermaier CD, Wrede A, Zechel S, Pauli S, Schmidt J.

Neurol Genet. 2019 Apr 26;5(3):e327. doi: 10.1212/NXG.0000000000000327. eCollection 2019 Jun. No abstract available.

8.

An autopsy case of peliosis hepatis with X-linked myotubular myopathy.

Funayama K, Shimizu H, Tanaka H, Kawachi I, Nishino I, Matsui K, Takahashi N, Koyama A, Katsuragi-Go R, Higuchi R, Aoyama T, Watanabe H, Kakita A, Takatsuka H.

Leg Med (Tokyo). 2019 May;38:77-82. doi: 10.1016/j.legalmed.2019.04.005. Epub 2019 Apr 18.

PMID:
31030121
9.

Allele-Specific CRISPR/Cas9 Correction of a Heterozygous DNM2 Mutation Rescues Centronuclear Myopathy Cell Phenotypes.

Rabai A, Reisser L, Reina-San-Martin B, Mamchaoui K, Cowling BS, Nicot AS, Laporte J.

Mol Ther Nucleic Acids. 2019 Jun 7;16:246-256. doi: 10.1016/j.omtn.2019.02.019. Epub 2019 Feb 27.

10.

X-linked myotubular myopathy: A prospective international natural history study.

Annoussamy M, Lilien C, Gidaro T, Gargaun E, Chê V, Schara U, Gangfuß A, D'Amico A, Dowling JJ, Darras BT, Daron A, Hernandez A, de Lattre C, Arnal JM, Mayer M, Cuisset JM, Vuillerot C, Fontaine S, Bellance R, Biancalana V, Buj-Bello A, Hogrel JY, Landy H, Servais L.

Neurology. 2019 Apr 16;92(16):e1852-e1867. doi: 10.1212/WNL.0000000000007319. Epub 2019 Mar 22.

PMID:
30902907
11.

Amphiphysin 2 modulation rescues myotubular myopathy and prevents focal adhesion defects in mice.

Lionello VM, Nicot AS, Sartori M, Kretz C, Kessler P, Buono S, Djerroud S, Messaddeq N, Koebel P, Prokic I, Hérault Y, Romero NB, Laporte J, Cowling BS.

Sci Transl Med. 2019 Mar 20;11(484). pii: eaav1866. doi: 10.1126/scitranslmed.aav1866.

PMID:
30894500
12.

Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.

Nishikawa A, Iida A, Hayashi S, Okubo M, Oya Y, Yamanaka G, Takahashi I, Nonaka I, Noguchi S, Nishino I.

Mol Genet Genomic Med. 2019 May;7(5):e621. doi: 10.1002/mgg3.621. Epub 2019 Mar 18.

13.

Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle.

Vita G, Vita GL, Musumeci O, Rodolico C, Messina S.

Neurol Sci. 2019 Apr;40(4):671-681. doi: 10.1007/s10072-019-03764-z. Epub 2019 Feb 25. Review.

PMID:
30805745
14.

Nuclear defects in skeletal muscle from a Dynamin 2-linked centronuclear myopathy mouse model.

Fongy A, Falcone S, Lainé J, Prudhon B, Martins-Bach A, Bitoun M.

Sci Rep. 2019 Feb 7;9(1):1580. doi: 10.1038/s41598-018-38184-0.

15.

Centronuclear myopathy with cardiomyopathy due to recessive titinopathy.

Martinez-Thompson JM, Winder TL, Liewluck T.

Muscle Nerve. 2019 Apr;59(4):E26-E27. doi: 10.1002/mus.26429. Epub 2019 Feb 12. No abstract available.

PMID:
30681174
16.

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.

Franck A, Lainé J, Moulay G, Lemerle E, Trichet M, Gentil C, Benkhelifa-Ziyyat S, Lacène E, Bui MT, Brochier G, Guicheney P, Romero N, Bitoun M, Vassilopoulos S.

Mol Biol Cell. 2019 Mar 1;30(5):579-590. doi: 10.1091/mbc.E18-11-0718. Epub 2019 Jan 2.

17.

A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.

Kosma K, Mitrakos A, Sofokleous C, Papadimas G, Fryssira H, Kitsiou-Tzeli S, Tzetis M.

Neuropediatrics. 2019 Feb;50(1):61-63. doi: 10.1055/s-0038-1676513. Epub 2018 Dec 12.

PMID:
30541163
18.

Neuromuscular transmission defects in myopathies: Rare but worth searching for.

Elahi B, Laughlin RS, Litchy WJ, Milone M, Liewluck T.

Muscle Nerve. 2019 Apr;59(4):475-478. doi: 10.1002/mus.26393. Epub 2019 Jan 6.

PMID:
30536954
19.

Tamoxifen prolongs survival and alleviates symptoms in mice with fatal X-linked myotubular myopathy.

Gayi E, Neff LA, Massana Muñoz X, Ismail HM, Sierra M, Mercier T, Décosterd LA, Laporte J, Cowling BS, Dorchies OM, Scapozza L.

Nat Commun. 2018 Nov 19;9(1):4848. doi: 10.1038/s41467-018-07058-4.

20.

Tamoxifen therapy in a murine model of myotubular myopathy.

Maani N, Sabha N, Rezai K, Ramani A, Groom L, Eltayeb N, Mavandadnejad F, Pang A, Russo G, Brudno M, Haucke V, Dirksen RT, Dowling JJ.

Nat Commun. 2018 Nov 19;9(1):4849. doi: 10.1038/s41467-018-07057-5.

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