Ricardo A. Maselli - Publications, H-index & Citations

Ricardo A. Maselli

university of california davis

36H指数

121论文数

3.4K被引数

收录论文 30

发表时间

Presynaptic Congenital Myasthenic Syndromes 突触前型先天性肌无力综合征

MUSCLE & NERVE

IF3.1

2026-09-13

OAAI

Ricardo A. Maselli

Electrodiagnostic Evaluation of Congenital Myasthenic Syndromes

MUSCLE & NERVE

IF3.1

2025-12-01

PREAI

Maselli, Ricardo A.

Effective Treatment of Colq-Deficient Mice with Adeno-Associated Virus Type Rh74-Mediated Gene Therapy Colq缺陷小鼠经腺相关病毒Rh74介导的基因治疗实现有效治疗

Human Gene Therapy

IF4

2025-10-08

PREAI

Abigail McInnes; Jaime N. Young; Anahid S. Aivazian; Kyley Linn; Marc A. Gonzalez; Sarah E. Cook; Jessica Vazquez; Claudia Canzonetta; Patricio V. Sepulveda S.; Ricardo A. Maselli

Missense variants in CMS22 patients reveal that PREPL has both enzymatic and nonenzymatic functions CMS22患者的错义变异表明PREPL具有酶和非酶功能

JCI INSIGHT

IF6.1

2024-09-10

OAAI

Monnens, Yenthe; Theodoropoulou, Anastasia; Rosier, Karen; Bhalla, Kritika; Mahy, Alexia; Vanhoutte, Roeland; Meulemans, Sandra; Cavani, Edoardo; Antanasijevic, Aleksandar; Lemmens, Irma; Lee, Jennifer A.; Spellicy, Catherine J.; Schroer, Richard J.; Maselli, Ricardo A.; Laverty, Chamindra G.; Agostinis, Patrizia; Pagliarini, David J.; Verhelst, Steven; Marcaida, Maria J.; Rochtus, Anne; Dal Peraro, Matteo; Creemers, John W. M.

Intravenous immunoglobulin is safe and effective in controlling pre-existing paraneoplastic neuromuscular diseases in cancer patients treated with immune checkpoint inhibitors: two case reports and literature review 静脉注射免疫球蛋白可安全有效地控制接受免疫检查点抑制剂治疗的癌症患者已存在的副肿瘤性神经肌肉疾病: 两例病例报告和文献复习

FRONTIERS IN ONCOLOGY

IF3.3

2023-07-03

OAAI

Xiong, Ge; Young, Richard Benjamin; Chow, Helen; Maverakis, Emanual; Maselli, Ricardo A.; Richman, David Paul; Li, Tianhong

Pathogenic effects of agrin V1727F mutation are isoform specific and decrease its expression and affinity for HSPGs and LRP4

HUMAN MOLECULAR GENETICS

IF3.2

2019-04-17

OAAI

Rudell, John B.; Maselli, Ricardo A.; Yarov-Yarovoy, Vladimir; Ferns, Michael J.

A presynaptic congenital myasthenic syndrome attributed to a homozygous sequence variant in LAMA5 归因于LAMA5纯合序列变异的突触前先天性肌无力综合征

ANNALS OF THE NEW YORK ACADEMY OF SCIENCES

IF4.8

2018-01-28

OAAI

Maselli, Ricardo A.; Arredondo, Juan; Vazquez, Jessica; Chong, Jessica X.; Bamshad, Michael J.; Nickerson, Deborah A.; Lara, Marian; Ng, Fiona; Lo, Victoria Lee; Pytel, Peter; McDonald, Craig M.

Choline Acetyltransferase Mutations Causing Congenital Myasthenic Syndrome: Molecular Findings and Genotype-Phenotype Correlations 导致先天性肌无力综合征的胆碱乙酰转移酶突变: 分子发现和基因型-表型相关性

HUMAN MUTATION

IF3.7

2015-07-24

OAAI

Arredondo, Juan; Lara, Marian; Gospe, Sidney M., Jr.; Mazia, Claudio G.; Vaccarezza, Maria; Garcia-Erro, Marcela; Bowe, Constance M.; Chang, Celia H.; Mezei, Michelle M.; Maselli, Ricardo A.

Defective Fast Inactivation Recovery of Nav1.4 in Congenital Myasthenic Syndrome

ANNALS OF NEUROLOGY

IF7.7

2015-03-27

OAAI

Arnold, W. David; Feldman, Daniel H.; Ramirez, Sandra; He, Liuyuan; Kassar, Darine; Quick, Adam; Klassen, Tara L.; Lara, Marian; Joanna Nguyen; Kissel, John T.; Lossin, Christoph; Maselli, Ricardo A.

COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina

HUMAN GENETICS

IF3.6

2013-11-27

OAAI

Arredondo, Juan; Lara, Marian; Ng, Fiona; Gochez, Danielle A.; Lee, Diana C.; Logia, Stephanie P.; Joanna Nguyen; Maselli, Ricardo A.

Synaptic basal lamina-associated congenital myasthenic syndromes

MYASTHENIA GRAVIS AND RELATED DISORDERS II

IF0

2012-12-20

PREAI

Maselli, Ricardo A.; Arredondo, Juan; Ferns, Michael J.; Wollmann, Robert L.

Animal models of antimuscle-specific kinase myasthenia

MYASTHENIA GRAVIS AND RELATED DISORDERS I

IF0

2012-12-17

OAAI

Richman, David P.; Nishi, Kayoko; Ferns, Michael J.; Schnier, Joachim; Pytel, Peter; Maselli, Ricardo A.; Agius, Mark A.

Dominantly Inherited Myotonia Congenita Resulting from a Mutation That Increases Open Probability of the Muscle Chloride Channel CLC-1 显性遗传性先天性肌强直是由增加肌肉氯离子通道CLC-1开放概率的突变引起的

NEUROMOLECULAR MEDICINE

IF3.9

2012-07-12

OAAI

Richman, David P.; Yu, Yawei; Lee, Ting-Ting; Tseng, Pang-Yen; Yu, Wei-Ping; Maselli, Ricardo A.; Tang, Chih-Yung; Chen, Tsung-Yu

LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin

HUMAN GENETICS

IF3.6

2011-12-29

OAAI

Maselli, Ricardo A.; Fernandez, Jose M.; Arredondo, Juan; Navarro, Carmen; Maian Ngo; Beeson, David; Cagney, Orla; Williams, D. Colette; Wollmann, Robert L.; Yarov-Yarovoy, Vladimir; Ferns, Michael J.

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK-Dok-7 interaction

HUMAN MOLECULAR GENETICS

IF3.2

2010-04-06

OAAI

Maselli, Ricardo A.; Arredondo, Juan; Cagney, Orla; Ng, Jarae J.; Anderson, Jennifer A.; Williams, Colette; Gerke, Bae J.; Soliven, Betty; Wollmann, Robert L.

Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome

JOURNAL OF MEDICAL GENETICS

IF3.7

2008-03-18

OAAI

Maselli, R. A.; Ng, J. J.; Anderson, J. A.; Cagney, O.; Arredondo, J.; Williams, C.; Wessel, H. B.; Abdel-Hamid, H.; Wollmann, R. L.

Rhodamine-labeled alpha-bungarotoxin allows visualization of end plates in congenital end plate acetylcholinesterase deficiency (CEAD)

MYASTHENIA GRAVIS AND RELATED DISEASES: DISORDERS OF THE NEUROMUSCULAR JUNCTION

IF0

2006-02-07

PREAI

Agius, MA; Maselli, RA; Zhu, S; Fairclough, RH; Lin, MY; Ellis, W