PubRank

Peter Schneiderat

Author PubWeight™ 11.93‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Transplantation of genetically corrected human iPSC-derived progenitors in mice with limb-girdle muscular dystrophy. Sci Transl Med 2012 1.78
2 The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene. Brain 2007 1.73
3 Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol 2010 1.01
4 Biobanking in rare disorders. Adv Exp Med Biol 2010 0.94
5 Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes. BMC Med Genet 2013 0.91
6 miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors. Orphanet J Rare Dis 2013 0.91
7 Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia. J Neurol 2009 0.90
8 Facioscapulohumeral muscular dystrophy presenting with unusual phenotypes and atypical morphological features of vacuolar myopathy. J Neurol 2010 0.89
9 Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies. PLoS One 2013 0.80
10 A novel mutation in the myotilin gene (MYOT) causes a severe form of limb girdle muscular dystrophy 1A (LGMD1A). J Neurol 2011 0.80
11 Functional analysis of apoptosis induction in acute myeloid leukaemia-relevance of karyotype and clinical treatment response. Br J Haematol 2004 0.79
12 Immortalized myogenic cells from congenital muscular dystrophy type1A patients recapitulate aberrant caspase activation in pathogenesis: a new tool for MDC1A research. Skelet Muscle 2013 0.78