Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

…, J Cañizares, H Koutnikova, SI Bidichandani, C Gellera… - Science, 1996 - science.org
C, 1 min at 55C, and 1 min at 72C. To amplify the highly GCrich exon 1, we raised the annealing
temperature to 68C … cycles of the following steps: 94C for 20 s, 68C for 8 min, followed …

Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis

…, F Salachas, V Meininger, W Rossoll, A Ratti, C Gellera… - Nature, 2012 - nature.com
… PCR (30 cycles with annealing temperature starting at 65 C and decreasing 0.5 C per cycle,
followed by 15 cycles with an annealing temperature of 65 C), using primers with M13 tails (…

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

…, C Gellera, C Tiloca, A Ratti, A Calvo, C Moglia… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome-sequenced …

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

M Zeviani, S Servidei, C Gellera, E Bertini, S DiMauro… - Nature, 1989 - nature.com
… Time and temperature conditions for one cycle were as follows: heat-denaturation was at 95
C for 2 min; primer-annealing was at 52 C for 2 min; polymerase-extension was at 72 C for 2 …

[PDF][PDF] Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS

…, A García-Redondo, Z Wu, JD Glass, C Gellera… - Neuron, 2014 - cell.com
Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …

[HTML][HTML] Human coronaviruses: insights into environmental resistance and its influence on the development of new antiseptic strategies

C Geller, M Varbanov, RE Duval - Viruses, 2012 - mdpi.com
C, there was no loss of infectivity [105]. Another study confirms the viral stability at 4 C, and
also at 20 C and 37 C … 90, 60 and 30 min exposure at 56 C, 67 C and 75 C, respectively [106]. …

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

…, F Bonn, B Castellotti, S Baratta, C Mariotti, C Gellera… - Nature …, 2010 - nature.com
… Except where indicated, we scored growth after 3 d incubation at 28 C. YPD and YPG, YEP
plates containing 2… Similar results were obtained after incubation at 37 C (data not shown). (…

The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis

J Yang, P Cavadini, C Gellera… - Human molecular …, 1999 - academic.oup.com
… (c) Induction of caspase 3 activity by staurosporine in FRDA fibroblasts versus controls.
Specific activities for caspase 3 were 1.50 ± 0.24 (2x SEM) and 0.96 ± 0.19 pmol of p-nitroaniline/…

Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu (UUR)

M Zeviani, C Gellera, C Antozzi, M Rimoldi, L Morandi… - The Lancet, 1991 - Elsevier
Different point mutations of the mitochondrial genome, which all affect the ability of mitochondria
to translate their own genes and lead to partial defects of mtDNA-dependent respiratory …

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

…, W Robberecht, A Chio, C Gellera, C Drepper… - Nature …, 2016 - nature.com
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …