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 …
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
… 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 (…
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
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 …
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
… 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 …
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 …
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]. …
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). (…
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/…
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 …
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 …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …