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Edvardson, Simon
95  results:
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1

Neurodevelopmental and synaptic defects in DNAJC6 parkinson..:

Abela, Lucia ; Gianfrancesco, Lorita ; Tagliatti, Erica...
Brain.  147 (2024)  6 - p. 2023-2037 , 2024
Link: https://doi.org/10.1093/..
 
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2

Unbiased phenotype and genotype matching maximizes gene dis..:

Rips, Jonathan ; Halstuk, Orli ; Fuchs, Adina...
Genetics in Medicine.  26 (2024)  4 - p. 101068 , 2024
Link: https://doi.org/10.1016/..
 
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3

Neurodevelopmental disorder mutations in the purine biosynt..:

O'Neill, Audrey G. ; Burrell, Anika L. ; Zech, Michael...
Journal of Biological Chemistry.  299 (2023)  8 - p. 105012 , 2023
Link: https://doi.org/10.1016/..
 
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4

WiTNNess: An international natural history study of infanti..:

Strauss, Kevin A. ; Carson, Vincent J. ; Bolettieri, Emilienne...
Annals of Clinical and Translational Neurology.  10 (2023)  11 - p. 1972-1984 , 2023
Link: https://doi.org/10.1002/..
 
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5

Nociception and pain in humans lacking a functional TRPV1 c..:

Katz, Ben ; Zaguri, Rachel ; Edvardson, Simon...
Journal of Clinical Investigation.  133 (2023)  3 - p. , 2023
Link: https://doi.org/10.1172/..
 
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6

A loss-of-function mutation in human Oxidation Resistance 1..:

Lin, Xiaolin ; Wang, Wei ; Yang, Mingyi...
Genome Biology.  24 (2023)  1 - p. , 2023
Link: https://doi.org/10.1186/..
 
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7

Delineation of the phenotype of MED17-related disease in Ca..:

Fattal-Valevski, Aviva ; Ben Sira, Liat ; Lerman-Sagie, Tally...
European Journal of Paediatric Neurology.  32 (2021)  - p. 40-45 , 2021
Link: https://doi.org/10.1016/..
 
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8

Infantile SOD1 deficiency syndrome caused by a homozygous S..:

Ezer, Shlomit ; Daana, Muhannad ; Park, Julien H...
Brain.  145 (2021)  3 - p. 872-878 , 2021
Link: https://doi.org/10.1093/..
 
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9

Homozygous frameshift variant in NTNG2, encoding a synaptic..:

Abu-Libdeh, Bassam ; Ashhab, Motee ; Shahrour, Maher...
neurogenetics.  20 (2019)  4 - p. 209-213 , 2019
Link: https://doi.org/10.1007/..
 
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10

A patient-specific induced pluripotent stem cell model for ..:

van Diepen, Laura ; Buettner, Falk F. R. ; Hoffmann, Dirk...
European Journal of Human Genetics.  26 (2018)  12 - p. 1773-1783 , 2018
Link: https://doi.org/10.1038/..
 
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11

Further delineation of the clinical spectrum of de novo TRI..:

Assoum, Mirna ; Lines, Matthew A. ; Elpeleg, Orly...
American Journal of Medical Genetics Part A.  176 (2018)  11 - p. 2470-2478 , 2018
Link: https://doi.org/10.1002/..
 
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12

Clinical and experimental evidence suggest a link between K..:

Asadollahi, Reza ; Strauss, Justin E ; Zenker, Martin...
European Journal of Human Genetics.  26 (2018)  2 - p. 197-209 , 2018
Link: https://doi.org/10.1038/..
 
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13

tRNA N6-adenosine threonylcarbamoyltransferase defect due t..:

Edvardson, Simon ; Prunetti, Laurence ; Arraf, Aiman...
European Journal of Human Genetics.  25 (2017)  5 - p. 545-551 , 2017
Link: https://doi.org/10.1038/..
 
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14

Erratum to: PARP10 deficiency manifests by severe developme..:

Shahrour, Maher Awni ; Nicolae, Claudia M. ; Edvardson, Simon...
neurogenetics.  18 (2017)  2 - p. 119-119 , 2017
Link: https://doi.org/10.1007/..
 
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15

A homozygous deleterious CDK10 mutation in a patient with a..:

Guen, Vincent J. ; Edvardson, Simon ; Fraenkel, Nitay D....
American Journal of Medical Genetics Part A.  176 (2017)  1 - p. 92-98 , 2017
Link: https://doi.org/10.1002/..
 
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