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Items: 14

1.

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ.

Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28.

2.

Triple A syndrome presenting as complicated hereditary spastic paraplegia.

Leveille E, Gonorazky HD, Rioux MF, Hazrati LN, Ruskey JA, Carnevale A, Spiegelman D, Dionne-Laporte A, Rouleau GA, Yoon G, Gan-Or Z.

Mol Genet Genomic Med. 2018 Nov;6(6):1134-1139. doi: 10.1002/mgg3.492. Epub 2018 Oct 31.

3.

Uniparental disomy unveils a novel recessive mutation in POMT2.

Brun BN, Willer T, Darbro BW, Gonorazky HD, Naumenko S, Dowling JJ, Campbell KP, Moore SA, Mathews KD.

Neuromuscul Disord. 2018 Jul;28(7):592-596. doi: 10.1016/j.nmd.2018.04.003. Epub 2018 Apr 10.

PMID:
29759639
4.

The genetics of congenital myopathies.

Gonorazky HD, Bönnemann CG, Dowling JJ.

Handb Clin Neurol. 2018;148:549-564. doi: 10.1016/B978-0-444-64076-5.00036-3. Review.

PMID:
29478600
5.

A novel intronic mutation in MTM1 detected by RNA analysis in a case of X-linked myotubular myopathy.

Al-Hashim A, Gonorazky HD, Amburgey K, Das S, Dowling JJ.

Neurol Genet. 2017 Aug 24;3(5):e182. doi: 10.1212/NXG.0000000000000182. eCollection 2017 Oct. No abstract available.

6.

Subacute demyelinating peripheral neuropathy as a novel presentation of late infantile metachromatic leukodystrophy.

Gonorazky HD, Amburgey K, Yoon G, Vajsar J, Widjaja E, Dowling JJ.

Muscle Nerve. 2017 Nov;56(5):E41-E44. doi: 10.1002/mus.25737. Epub 2017 Jul 18. No abstract available.

PMID:
28667691
7.

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Cummings BB, Marshall JL, Tukiainen T, Lek M, Donkervoort S, Foley AR, Bolduc V, Waddell LB, Sandaradura SA, O'Grady GL, Estrella E, Reddy HM, Zhao F, Weisburd B, Karczewski KJ, O'Donnell-Luria AH, Birnbaum D, Sarkozy A, Hu Y, Gonorazky H, Claeys K, Joshi H, Bournazos A, Oates EC, Ghaoui R, Davis MR, Laing NG, Topf A; Genotype-Tissue Expression Consortium, Kang PB, Beggs AH, North KN, Straub V, Dowling JJ, Muntoni F, Clarke NF, Cooper ST, Bönnemann CG, MacArthur DG.

Sci Transl Med. 2017 Apr 19;9(386). pii: eaal5209. doi: 10.1126/scitranslmed.aal5209.

8.

Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.

Gonorazky HD, Marshall CR, Al-Murshed M, Hazrati LN, Thor MG, Hanna MG, Männikkö R, Ray PN, Yoon G.

Neuromuscul Disord. 2017 Jun;27(6):574-580. doi: 10.1016/j.nmd.2017.02.001. Epub 2017 Feb 8.

PMID:
28262468
9.

Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.

Schartner V, Romero NB, Donkervoort S, Treves S, Munot P, Pierson TM, Dabaj I, Malfatti E, Zaharieva IT, Zorzato F, Abath Neto O, Brochier G, Lornage X, Eymard B, Taratuto AL, Böhm J, Gonorazky H, Ramos-Platt L, Feng L, Phadke R, Bharucha-Goebel DX, Sumner CJ, Bui MT, Lacene E, Beuvin M, Labasse C, Dondaine N, Schneider R, Thompson J, Boland A, Deleuze JF, Matthews E, Pakleza AN, Sewry CA, Biancalana V, Quijano-Roy S, Muntoni F, Fardeau M, Bönnemann CG, Laporte J.

Acta Neuropathol. 2017 Apr;133(4):517-533. doi: 10.1007/s00401-016-1656-8. Epub 2016 Dec 23.

PMID:
28012042
10.

Immune-mediated rippling muscle disease and myasthenia gravis.

Bettini M, Gonorazky H, Chaves M, Fulgenzi E, Figueredo A, Christiansen S, Cristiano E, Bertini ES, Rugiero M.

J Neuroimmunol. 2016 Oct 15;299:59-61. doi: 10.1016/j.jneuroim.2016.08.011. Epub 2016 Aug 12.

PMID:
27725122
11.

PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models.

Sabha N, Volpatti JR, Gonorazky H, Reifler A, Davidson AE, Li X, Eltayeb NM, Dall'Armi C, Di Paolo G, Brooks SV, Buj-Bello A, Feldman EL, Dowling JJ.

J Clin Invest. 2016 Sep 1;126(9):3613-25. doi: 10.1172/JCI86841. Epub 2016 Aug 22.

12.

RNAseq analysis for the diagnosis of muscular dystrophy.

Gonorazky H, Liang M, Cummings B, Lek M, Micallef J, Hawkins C, Basran R, Cohn R, Wilson MD, MacArthur D, Marshall CR, Ray PN, Dowling JJ.

Ann Clin Transl Neurol. 2015 Dec 8;3(1):55-60. doi: 10.1002/acn3.267. eCollection 2016 Jan.

13.

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders.

Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD.

Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.

14.

Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.

Böhm J, Biancalana V, Malfatti E, Dondaine N, Koch C, Vasli N, Kress W, Strittmatter M, Taratuto AL, Gonorazky H, Laforêt P, Maisonobe T, Olivé M, Gonzalez-Mera L, Fardeau M, Carrière N, Clavelou P, Eymard B, Bitoun M, Rendu J, Fauré J, Weis J, Mandel JL, Romero NB, Laporte J.

Brain. 2014 Dec;137(Pt 12):3160-70. doi: 10.1093/brain/awu272. Epub 2014 Sep 25.

PMID:
25260562

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