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Maselli, Ricardo A.
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Online (104)
Mediatypes
Articles (Online) (73)
OpenAccess-fulltext (31)
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1
Congenital myasthenic syndrome secondary to pathogenic vari..:
Muntadas, Javier A
;
Hyland, Martin R
;
Martínez, Maria Del Rosario Ortolá
...
BMC Medical Genomics. 17 (2024) 1 - p. , 2024
Link:
https://doi.org/10.1186/..
?
2
Missense variants in CMS22 patients reveal that PREPL has b..:
Monnens, Yenthe
;
Theodoropoulou, Anastasia
;
Rosier, Karen
...
JCI Insight. , 2024
Link:
https://doi.org/10.1172/..
?
3
Intravenous immunoglobulin is safe and effective in control..:
Xiong, Ge
;
Young, Richard Benjamin
;
Chow, Helen
...
Frontiers in Oncology. 13 (2023) - p. , 2023
Link:
https://doi.org/10.3389/..
?
4
Congenital Myasthenic Syndromes: A paradigm shift:
Maselli, Ricardo
RRNMF Neuromuscular Journal. 4 (2023) 3 - p. , 2023
Link:
https://doi.org/10.17161..
?
5
Dominant and recessive congenital myasthenic syndromes caus..:
Maselli, Ricardo A.
;
Wei, David T.
;
Hodgson, Trent S.
...
Muscle & Nerve. 64 (2021) 2 - p. 219-224 , 2021
Link:
https://doi.org/10.1002/..
?
6
Atypical Case of POEMS Presented as Demyelinating Polyneuro..:
Guo, Stacey Y.
;
Duffy, Alexandra O.
;
Maselli, Ricardo A.
.
Journal of Clinical Neuromuscular Disease. 23 (2021) 2 - p. 116-118 , 2021
Link:
https://doi.org/10.1097/..
?
7
Recessive Congenital Myasthenic Syndrome Caused by a Homozy..:
Maselli, Ricardo A.
;
Van der Linden, Helio
;
Ferns, Michael
Neurology. 94 (2020) 15_supplement - p. , 2020
Link:
https://doi.org/10.1212/..
?
8
Recessive congenital myasthenic syndrome caused by a homozy..:
Maselli, Ricardo A.
;
van der Linden Jr, Hélio
;
Ferns, Michael
American Journal of Medical Genetics Part A. 182 (2020) 7 - p. 1744-1749 , 2020
Link:
https://doi.org/10.1002/..
?
9
Pathogenic effects of agrin V1727F mutation are isoform spe..:
Rudell, John B
;
Maselli, Ricardo A
;
Yarov-Yarovoy, Vladimir
.
Human Molecular Genetics. 28 (2019) 16 - p. 2648-2658 , 2019
Link:
https://doi.org/10.1093/..
?
10
A presynaptic congenital myasthenic syndrome attributed to ..:
Maselli, Ricardo A.
;
Arredondo, Juan
;
Vázquez, Jessica
...
Annals of the New York Academy of Sciences. 1413 (2018) 1 - p. 119-125 , 2018
Link:
https://doi.org/10.1111/..
?
11
Presynaptic congenital myasthenic syndrome with altered syn..:
Maselli, Ricardo A.
;
Vázquez, Jessica
;
Schrumpf, Leah
...
Molecular Genetics & Genomic Medicine. 6 (2018) 3 - p. 434-440 , 2018
Link:
https://doi.org/10.1002/..
?
12
Presynaptic congenital myasthenic syndrome with a homozygou..:
Maselli, Ricardo A.
;
Arredondo, Juan
;
Vázquez, Jessica
...
American Journal of Medical Genetics Part A. 173 (2017) 8 - p. 2240-2245 , 2017
Link:
https://doi.org/10.1002/..
?
13
Congenital Myasthenic Syndrome due to DOK7 mutations in a f..:
Bevilacqua, Jorge A.
;
Lara, Marian
;
Díaz, Jorge
...
European Journal of Translational Myology. 27 (2017) 3 - p. , 2017
Link:
https://doi.org/10.4081/..
?
14
Effect of 3,4‐diaminopyridine at the murine neuromuscular j..:
Ng, Fiona
;
Lee, Diana C.
;
Schrumpf, Leah A.
...
Muscle & Nerve. 55 (2016) 2 - p. 223-231 , 2016
Link:
https://doi.org/10.1002/..
?
15
Defective fast inactivation recovery of Nav1.4 in congenita..:
Lossin, Christoph
;
Arnold, William
;
Feldman, Daniel
...
Neurology. 84 (2015) 14_supplement - p. , 2015
Link:
https://doi.org/10.1212/..
1-15