[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene
…, JJFA van Vugt, JT Geiger, RA Van der Spek… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 controls…
ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization
…, AM Dekker, RA van der Spek… - Brain …, 2020 - academic.oup.com
Increasingly, repeat expansions are being identified as part of the complex genetic
architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been …
architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been …
Associations between lifestyle and amyotrophic lateral sclerosis stratified by C9orf72 genotype: a longitudinal, population-based, case-control study
…, K van Veenhuijzen, RA van der Spek… - The Lancet …, 2021 - thelancet.com
Background Amyotrophic lateral sclerosis (ALS) is considered to be caused by both genetic
and environmental factors. The causal cascade is, however, not known. We aimed to assess …
and environmental factors. The causal cascade is, however, not known. We aimed to assess …
Association of NIPA1 repeat expansions with amyotrophic lateral sclerosis in a large international cohort
…, AM Dekker, JJFA van Vugt, RA van der Spek… - Neurobiology of …, 2019 - Elsevier
… Dekker a 1 , Joke JFA van Vugt a , Rick A. van der Spek a , Henk-Jan Westeneng a ,
Lindy JBG Kool a , Kevin P. Kenna a , Wouter van Rheenen a , Sara L. Pulit a , Russell L. …
Lindy JBG Kool a , Kevin P. Kenna a , Wouter van Rheenen a , Sara L. Pulit a , Russell L. …
Identification of new risk factors for rolandic epilepsy: CNV at Xp22. 31 and alterations at cholinergic synapses
…, R Gupta, RA Van Der Spek… - Journal of medical …, 2018 - jmg.bmj.com
Background Rolandic epilepsy (RE) is the most common genetic childhood epilepsy, consisting
of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, …
of focal, nocturnal seizures and frequent neurodevelopmental impairments in speech, …
[HTML][HTML] Exome array analysis of rare and low frequency variants in amyotrophic lateral sclerosis
…, RA van der Spek, W van Rheenen, KR van Eijk… - Scientific Reports, 2019 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects 1 in ~350
individuals. Genetic association studies have established ALS as a multifactorial disease …
individuals. Genetic association studies have established ALS as a multifactorial disease …
[HTML][HTML] Reconsidering the causality of TIA1 mutations in ALS
RA Van Der Spek, W Van Rheenen… - … Lateral Sclerosis and …, 2018 - Taylor & Francis
T-cell-restricted intracellular antigen-1 (TIA1) has been recently reported as a novel
amyotrophic lateral sclerosis (ALS) related gene, and has already been adopted in a resource …
amyotrophic lateral sclerosis (ALS) related gene, and has already been adopted in a resource …
Body temperature measurement in VLBW infants by continuous skin measurement is a good or even better alternative than continuous rectal measurement
RDG Van Der Spek, RA Van Lingen… - Acta …, 2009 - Wiley Online Library
Background: An inadequate body temperature in preterm infants influences morbidity and
mortality. Continuous rectal measurement is a reliable method to measure body temperature …
mortality. Continuous rectal measurement is a reliable method to measure body temperature …
Language functions in preterm-born children: a systematic review and meta-analysis
IL van Noort-van der Spek, MCJP Franken… - …, 2012 - publications.aap.org
… Quality assessment was undertaken independently by 2 authors (Van Noort-van der Spek
and Franken) by using the Newcastle-Ottawa Scale. This scale assesses the quality of case-…
and Franken) by using the Newcastle-Ottawa Scale. This scale assesses the quality of case-…
The classic pathways of thyroid hormone metabolism
AH van der Spek, E Fliers, A Boelen - Molecular and cellular endocrinology, 2017 - Elsevier
Thyroid hormones (TH) are crucial for growth and development and play an important role in
energy homeostasis. Although serum TH levels are relatively constant in the physiological …
energy homeostasis. Although serum TH levels are relatively constant in the physiological …