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Page 1
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: schrank b. Am J Hum Genet. 2021 May 6;108(5):840-856. doi: 10.1016/j.ajhg.2021.03.020. Epub 2021 Apr 15. Am J Hum Genet. 2021. PMID: 33861953 Free PMC article.
Muscle MRI findings in limb girdle muscular dystrophy type 2L.
Sarkozy A, Deschauer M, Carlier RY, Schrank B, Seeger J, Walter MC, Schoser B, Reilich P, Leturq F, Radunovic A, Behin A, Laforet P, Eymard B, Schreiber H, Hicks D, Vaidya SS, Gläser D, Carlier PG, Bushby K, Lochmüller H, Straub V. Sarkozy A, et al. Among authors: schrank b. Neuromuscul Disord. 2012 Oct 1;22 Suppl 2:S122-9. doi: 10.1016/j.nmd.2012.05.012. Neuromuscul Disord. 2012. PMID: 22980763
ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation.
Sarkozy A, Hicks D, Hudson J, Laval SH, Barresi R, Hilton-Jones D, Deschauer M, Harris E, Rufibach L, Hwang E, Bashir R, Walter MC, Krause S, van den Bergh P, Illa I, Pénisson-Besnier I, De Waele L, Turnbull D, Guglieri M, Schrank B, Schoser B, Seeger J, Schreiber H, Gläser D, Eagle M, Bailey G, Walters R, Longman C, Norwood F, Winer J, Muntoni F, Hanna M, Roberts M, Bindoff LA, Brierley C, Cooper RG, Cottrell DA, Davies NP, Gibson A, Gorman GS, Hammans S, Jackson AP, Khan A, Lane R, McConville J, McEntagart M, Al-Memar A, Nixon J, Panicker J, Parton M, Petty R, Price CJ, Rakowicz W, Ray P, Schapira AH, Swingler R, Turner C, Wagner KR, Maddison P, Shaw PJ, Straub V, Bushby K, Lochmüller H. Sarkozy A, et al. Among authors: schrank b. Hum Mutat. 2013 Aug;34(8):1111-8. doi: 10.1002/humu.22342. Epub 2013 Jun 12. Hum Mutat. 2013. PMID: 23606453
Targeted sequencing with expanded gene profile enables high diagnostic yield in non-5q-spinal muscular atrophies.
Karakaya M, Storbeck M, Strathmann EA, Delle Vedove A, Hölker I, Altmueller J, Naghiyeva L, Schmitz-Steinkrüger L, Vezyroglou K, Motameny S, Alawbathani S, Thiele H, Polat AI, Okur D, Boostani R, Karimiani EG, Wunderlich G, Ardicli D, Topaloglu H, Kirschner J, Schrank B, Maroofian R, Magnusson O, Yis U, Nürnberg P, Heller R, Wirth B. Karakaya M, et al. Among authors: schrank b. Hum Mutat. 2018 Sep;39(9):1284-1298. doi: 10.1002/humu.23560. Epub 2018 Jul 25. Hum Mutat. 2018. PMID: 29858556
De Novo and Inherited Variants in GBF1 are Associated with Axonal Neuropathy Caused by Golgi Fragmentation.
Mendoza-Ferreira N, Karakaya M, Cengiz N, Beijer D, Brigatti KW, Gonzaga-Jauregui C, Fuhrmann N, Hölker I, Thelen MP, Zetzsche S, Rombo R, Puffenberger EG, De Jonghe P, Deconinck T, Zuchner S, Strauss KA, Carson V, Schrank B, Wunderlich G, Baets J, Wirth B. Mendoza-Ferreira N, et al. Among authors: schrank b. Am J Hum Genet. 2020 Oct 1;107(4):763-777. doi: 10.1016/j.ajhg.2020.08.018. Epub 2020 Sep 15. Am J Hum Genet. 2020. PMID: 32937143 Free PMC article.
Novel variants broaden the phenotypic spectrum of PLEKHG5-associated neuropathies.
Chen Z, Maroofian R, Başak AN, Shingavi L, Karakaya M, Efthymiou S, Gustavsson EK, Meier L, Polavarapu K, Vengalil S, Preethish-Kumar V, Nandeesh BN, Gökçe Güneş N, Akan O, Candan F, Schrank B, Zuchner S, Murphy D, Kapoor M, Ryten M, Wirth B, Reilly MM, Nalini A, Houlden H, Sarraf P. Chen Z, et al. Among authors: schrank b. Eur J Neurol. 2021 Apr;28(4):1344-1355. doi: 10.1111/ene.14649. Epub 2020 Dec 17. Eur J Neurol. 2021. PMID: 33220101
A form of muscular dystrophy associated with pathogenic variants in JAG2.
Coppens S, Barnard AM, Puusepp S, Pajusalu S, Õunap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Toosi MB, Karimiani EG, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Łusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Augé A, Deleuze JF, Meng Y, Töpf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bönnemann CG, Straub V, Handford PA, Draper I, Walter GA, Kang PB. Coppens S, et al. Among authors: schrank b. Am J Hum Genet. 2021 Jun 3;108(6):1164. doi: 10.1016/j.ajhg.2021.04.018. Am J Hum Genet. 2021. PMID: 34087166 Free PMC article. No abstract available.
Clinical and neuropathological findings in patients with TACO1 mutations.
Seeger J, Schrank B, Pyle A, Stucka R, Lörcher U, Müller-Ziermann S, Abicht A, Czermin B, Holinski-Feder E, Lochmüller H, Horvath R. Seeger J, et al. Among authors: schrank b. Neuromuscul Disord. 2010 Nov;20(11):720-4. doi: 10.1016/j.nmd.2010.06.017. Epub 2010 Aug 19. Neuromuscul Disord. 2010. PMID: 20727754
160 results