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Payam Mohassel
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Online (107)
Mediatypes
Articles (Online) (38)
Bookchapter (Online) (2)
OpenAccess-fulltext (67)
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1
Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a r..:
Donkervoort, Sandra
;
Mohassel, Payam
;
O'Leary, Melanie
...
Annals of Clinical and Translational Neurology. 11 (2024) 3 - p. 629-640 , 2024
Link:
https://doi.org/10.1002/..
?
2
Clinical, immunohistochemical, and genetic characterization..:
Geist Hauserman, Janelle
;
Laverty, Chamindra G.
;
Donkervoort, Sandra
...
Human Genetics and Genomics Advances. 5 (2024) 2 - p. 100274 , 2024
Link:
https://doi.org/10.1016/..
?
3
Rycal S48168 (ARM210) for RYR1-related myopathies: a phase ..:
Todd, Joshua J.
;
Lawal, Tokunbor A.
;
Chrismer, Irene C.
...
eClinicalMedicine. 68 (2024) - p. 102433 , 2024
Link:
https://doi.org/10.1016/..
?
4
Serine Palmitoyltransferase (SPT)-related Neurodegenerative..:
Mohassel, Payam
;
Abdullah, Meher
;
Eichler, Florian S.
.
Journal of Neuromuscular Diseases. 11 (2024) 4 - p. 735-747 , 2024
Link:
https://doi.org/10.3233/..
?
5
SPTSSA variants alter sphingolipid synthesis and cause a co..:
Srivastava, Siddharth
;
Shaked, Hagar Mor
;
Gable, Kenneth
...
Brain. 146 (2023) 4 - p. 1420-1435 , 2023
Link:
https://doi.org/10.1093/..
?
6
Recurrent de novoSPTLC2variant causes childhood-onset amyot..:
Syeda, Safoora B
;
Lone, Museer A
;
Mohassel, Payam
...
Journal of Neurology, Neurosurgery & Psychiatry. 95 (2023) 2 - p. 103-113 , 2023
Link:
https://doi.org/10.1136/..
?
7
A comprehensive study of skeletal muscle imaging in FHL1‐re..:
Mohassel, Payam
;
Yun, Pomi
;
Syeda, Safoora
...
Annals of Clinical and Translational Neurology. 10 (2023) 8 - p. 1442-1455 , 2023
Link:
https://doi.org/10.1002/..
?
8
Heterozygous frameshift variants in HNRNPA2B1 cause early-o..:
Kim, Hong Joo
;
Mohassel, Payam
;
Donkervoort, Sandra
...
Nature Communications. 13 (2022) 1 - p. , 2022
Link:
https://doi.org/10.1038/..
?
9
Attribution of original contribution in large datasets in t..:
Mohassel, Payam
;
Guadagnin, Eleonora
;
Bönnemann, Carsten G.
Annals of Clinical and Translational Neurology. 9 (2022) 6 - p. 895-896 , 2022
Link:
https://doi.org/10.1002/..
?
10
The SPTLC1 p.S331 mutation bridges sensory neuropathy and m..:
Fiorillo, Chiara
;
Capodivento, Giovanna
;
Geroldi, Alessandro
...
Neuropathology and Applied Neurobiology. 48 (2022) 7 - p. , 2022
Link:
https://doi.org/10.1111/..
?
11
New Insights into the Neuromyogenic Spectrum of a Gain of F..:
Kölbel, Heike
;
Kraft, Florian
;
Hentschel, Andreas
...
Genes. 13 (2022) 5 - p. 893 , 2022
Link:
https://doi.org/10.3390/..
?
12
SPTLC1 variants associated with ALS produce distinct sphing..:
Lone, Museer A.
;
Aaltonen, Mari J.
;
Zidell, Aliza
...
Journal of Clinical Investigation. 132 (2022) 18 - p. , 2022
Link:
https://doi.org/10.1172/..
?
13
Cross-sectional Neuromuscular Phenotyping Study of Patients..:
Mohassel, Payam
;
Chang, Ning
;
Inoue, Kaoru
...
Neurology. 98 (2022) 13 - p. , 2022
Link:
https://doi.org/10.1212/..
?
14
SPTLC1 Mutations Associated with Early Onset Amyotrophic La..:
Dunn, Teresa
;
Gable, Kenneth
;
Gupta, Sita
...
The FASEB Journal. 35 (2021) S1 - p. , 2021
Link:
https://doi.org/10.1096/..
?
15
Childhood amyotrophic lateral sclerosis caused by excess sp..:
Mohassel, Payam
;
Donkervoort, Sandra
;
Lone, Museer A.
...
Nature Medicine. 27 (2021) 7 - p. 1197-1204 , 2021
Link:
https://doi.org/10.1038/..
1-15