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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M, Bauer P, Bornemann A, de Goede C, Dufke A, Finkel RS, Goebel HH, Häussler M, Kingston H, Kirschner J, Medne L, Muschke P, Rivier F, Rudnik-Schöneborn S, Spengler S, Inzana F, Stanzial F, Benedicenti F, Synofzik M, Lia Taratuto A, Pirra L, Tay SK, Topaloglu H, Uyanik G, Wand D, Williams D, Zerres K, Weis J, Senderek J. Krieger M, et al. Among authors: goebel hh. Brain. 2013 Dec;136(Pt 12):3634-44. doi: 10.1093/brain/awt283. Epub 2013 Oct 30. Brain. 2013. PMID: 24176978 Free article.
Immunohistochemistry of amyloid-related neuropathies.
Horn U, Goebel HH, Störkel S, Bohl J, Thomas E, Schlote W, Budzilovich G. Horn U, et al. Among authors: goebel hh. Clin Neuropathol. 1991 Sep-Oct;10(5):237-43. Clin Neuropathol. 1991. PMID: 1959254
A mutation in myotilin causes spheroid body myopathy.
Foroud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. Foroud T, et al. Among authors: goebel hh. Neurology. 2005 Dec 27;65(12):1936-40. doi: 10.1212/01.wnl.0000188872.28149.9a. Neurology. 2005. PMID: 16380616
Giant axonal neuropathy and leukodystrophy.
Stollhoff K, Albani M, Goebel HH. Stollhoff K, et al. Among authors: goebel hh. Pediatr Neurol. 1991 Jan-Feb;7(1):69-71. doi: 10.1016/0887-8994(91)90111-w. Pediatr Neurol. 1991. PMID: 2029298
Infantile intranuclear rod myopathy.
Goebel HH, Piirsoo A, Warlo I, Schofer O, Kehr S, Gaude M. Goebel HH, et al. J Child Neurol. 1997 Jan;12(1):22-30. doi: 10.1177/088307389701200104. J Child Neurol. 1997. PMID: 9010792 Review.
484 results