User profiles for N. Vasli
 | Nasim VasliUniversity of Toronto Verified email at camh.ca Cited by 1335 |
Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
…, N Vasli, ST Iannaccone, PB Shieh, N Shur… - Neurology, 2013 - AAN Enterprises
… All patient muscles showed normal sarcomeric labeling with the titin N-terminal and AI
junction antibodies, indicating that titin was integrated into the sarcomeres and its structure was …
junction antibodies, indicating that titin was integrated into the sarcomeres and its structure was …
Mapping autosomal recessive intellectual disability: combined microarray and exome sequencing identifies 26 novel candidate genes in 192 consanguineous families
… Here, we present a study of multiplex ID families from Pakistan (N=176) and Iran (N=16)
using microarray-based genotyping to identify autozygous regions (HBD shared by affected …
using microarray-based genotyping to identify autozygous regions (HBD shared by affected …
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations
…, V Biancalana, E Malfatti, N Dondaine, C Koch, N Vasli… - Brain, 2014 - academic.oup.com
… We also found two missense mutations in the N-BAR domain impairing the membrane
tubulation properties of amphiphysin 2. In contrast to the recessive mutations in the N-BAR domain…
tubulation properties of amphiphysin 2. In contrast to the recessive mutations in the N-BAR domain…
[HTML][HTML] Next generation sequencing for molecular diagnosis of neuromuscular diseases
… Patient N showed two missense changes in LMNA including the p.Arg644Cys change,
previously linked to various laminopathies. Both changes are on the same allele, as they were …
previously linked to various laminopathies. Both changes are on the same allele, as they were …
[PDF][PDF] Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability
… The error bar represents SEM (0.83 5 0.085 versus 0.81 5 0.065 versus 0.47 5 0.110 in
the control individual, unaffected individual, and affected individual, respectively; n ¼ 10 …
the control individual, unaffected individual, and affected individual, respectively; n ¼ 10 …
[HTML][HTML] VaRank: a simple and powerful tool for ranking genetic variants
Background. Most genetic disorders are caused by single nucleotide variations (SNVs) or
small insertion/deletions (indels). High throughput sequencing has broadened the catalogue …
small insertion/deletions (indels). High throughput sequencing has broadened the catalogue …
Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders
Neuromuscular disorders (NMD) such as neuropathy or myopathy are rare and often severe
inherited disorders, affecting muscle and/or nerves with neonatal, childhood or adulthood …
inherited disorders, affecting muscle and/or nerves with neonatal, childhood or adulthood …
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
X-linked myotubular myopathy (XLMTM), a severe congenital myopathy, is caused by mutations
in the MTM1 gene located on the X chromosome. A majority of affected males die in the …
in the MTM1 gene located on the X chromosome. A majority of affected males die in the …
[HTML][HTML] Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy
… This is in accordance with the known biochemical function of amphiphysin 2 and other N-BAR
domain proteins to sense membrane curvature and to potentially induce curvature through …
domain proteins to sense membrane curvature and to potentially induce curvature through …
[HTML][HTML] An integrated diagnosis strategy for congenital myopathies
… Contributed equally to this work with: Johann Böhm, Nasim Vasli … Nasim Vasli ,
Contributed equally to this work with: Johann Böhm, Nasim Vasli …
Contributed equally to this work with: Johann Böhm, Nasim Vasli …