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We observed that only ketogenic diet-fed Pank2 −/− mice presented typical signs of neurological and motor impairment, as well as neuropathological findings, resembling the phenotype observed in patients with PKAN.
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Indeed, F508del-CFTR mice present typical transepithelial ion transport abnormalities (van Doorninck et al., 1995) as we (Lubamba et al., 2009, 2008) and others (Droebner and Sandner, 2013; Saussereau et al., 2013) have demonstrated by measuring nasal potential difference.
Young ICR mice presented the typical pulmonary interstitial inflammatory lesions, while old ICR mice showed many inflammatory cell infiltrations and severe hemorrhages.
All patients presented typical Raynaud's phenomenon.
The patient presented typical clinical symptoms of CJD.
A mouse model which presents typical symptoms of myotonic dystrophy when a normal DMPK 3'UTR mRNA is over-expressed [17] clearly raises issues as to the relative role of the expansion itself and of the non repeat DMPK 3'UTR in the pathogenicity of CUG expanded RNA in DM1 patients.
We observed that LMKO mice presented significantly decreased mRNA levels of the typical FOXO1 target genes such as insulin receptor substrate 2 (Irs2) and insulin-like growth factor-binding protein 1 (Igfbp1) after fasting compared with control mice, as determined by Q-PCR.
Surprisingly, the beta-ARKnt transgenic mice presented with cardiac hypertrophy.
Table 2 presents typical water adjustment factors.
In this section, we present typical applications of the PRROC R-package.
From the examples given in Table 2, it is difficult to reach definite conclusions for most cases: for ATP13A2, no pathological analysis of Kufor Rakeb brains has been performed yet; the Alzheimer's disease case with a CADASIL-associated mutation is still alive; and for GRN no pathological assessment of the NCL homozygous cases was done, although mice present with typical NCL lesions.
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