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Maselli, Ricardo A.
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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/..
 
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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/..
 
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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/..
 
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4

Congenital Myasthenic Syndromes: A paradigm shift:

Maselli, Ricardo
RRNMF Neuromuscular Journal.  4 (2023)  3 - p. , 2023
Link: https://doi.org/10.17161..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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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/..
 
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