[HTML][HTML] Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
Background We aimed to accurately estimate the frequency of a hexanucleotide repeat
expansion in C9orf72 that has been associated with a large proportion of cases of …
expansion in C9orf72 that has been associated with a large proportion of cases of …
VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death
D Lambrechts, E Storkebaum, M Morimoto… - Nature …, 2003 - nature.com
Amyotrophic lateral sclerosis (ALS) is an incurable degenerative disorder of motoneurons.
We recently reported that reduced expression of Vegfa causes ALS-like motoneuron …
We recently reported that reduced expression of Vegfa causes ALS-like motoneuron …
[PDF][PDF] Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
…, JH Veldink, LH van den Berg, A Al-Chalabi, H Pall… - 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 …
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors
screened CHMP2B in patients with ALS and several cohorts of control samples. They …
screened CHMP2B in patients with ALS and several cohorts of control samples. They …
Management of ingested foreign bodies in children: a clinical report of the NASPGHAN Endoscopy Committee
…, M Shah, TC Stephen, TE Gibbons, H Pall… - Journal of pediatric …, 2015 - journals.lww.com
Foreign body ingestions in children are some of the most challenging clinical scenarios
facing pediatric gastroenterologists. Determining the indications and timing for intervention …
facing pediatric gastroenterologists. Determining the indications and timing for intervention …
Bowel preparation for pediatric colonoscopy: report of the NASPGHAN endoscopy and procedures committee
H Pall, GM Zacur, RE Kramer, RA Lirio… - Journal of Pediatric …, 2014 - journals.lww.com
Pediatric bowel preparation protocols used before colonoscopy vary greatly, with no
identified standard practice. The present clinical report reviews the evidence for several …
identified standard practice. The present clinical report reviews the evidence for several …
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
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 …
[HTML][HTML] Chromosome 9p21 in sporadic amyotrophic lateral sclerosis in the UK and seven other countries: a genome-wide association study
Background Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of motor
neurons that results in progressive weakness and death from respiratory failure, commonly …
neurons that results in progressive weakness and death from respiratory failure, commonly …
Severe acute respiratory syndrome coronavirus 2 clinical syndromes and predictors of disease severity in hospitalized children and youth
…, S Nachman, S Naganathan, E Paintsil, H Pall… - The Journal of …, 2021 - Elsevier
Objective To characterize the demographic and clinical features of pediatric severe acute
respiratory syndrome coronavirus 2 (SARS-CoV-2) syndromes and identify admission …
respiratory syndrome coronavirus 2 (SARS-CoV-2) syndromes and identify admission …
[HTML][HTML] The C9ORF72 expansion mutation is a common cause of ALS+/− FTD in Europe and has a single founder
A massive hexanucleotide repeat expansion mutation (HREM) in C9ORF72 has recently
been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here …
been linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here …