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7 Records found.
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1.
Feichtinger, R.G.* et al.: Biallelic variants in the transcription factor PAX7 are a new genetic cause of myopathy. Genet. Med., accepted (2019)
2.
Stangl, M.K.* et al.: Sarcopenia - Endocrinological and neurological aspects. Exp. Clin. Endocrinol. Diabet. 127, 8-22 (2019)
3.
Shashi, V.* et al.: Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration. EMBO J., accepted (2018)
4.
Schludi, M.H.* et al.: Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss. Acta Neuropathol. 134, 241–254 (2017)
5.
Vill, K.* et al.: Early-onset myopathies: Clinical findings, prevalence of subgroups and diagnostic approach in a single neuromuscular referral center in Germany. J. Neuromuscul. Dis. 4, 315-325 (2017)
6.
Wiessner, M.* et al.: Mutations in INPP5K, encoding a phosphoinositide 5-phosphatase, cause congenital muscular dystrophy with cataracts and mild cognitive impairment. Am. J. Hum. Genet. 100, 523-536 (2017)
7.
Senderek, J.* et al.: Hexosamine biosynthetic pathway mutations cause neuromuscular transmission defect. Am. J. Hum. Genet. 88, 162-172 (2011)