| Title : Missense variants in CMS22 patients reveal that PREPL has both enzymatic and non-enzymatic functions - Monnens_2024_JCI.Insight__e179276 |
| Author(s) : Monnens Y , Theodoropoulou A , Rosier K , Bhalla K , Mahy A , Vanhoutte R , Meulemans S , Cavani E , Antanasijevic A , Lemmens I , Lee JA , Spellicy CJ , Schroer RJ , Maselli RA , Laverty CG , Agostinis P , Pagliarini DJ , Verhelst S , Marcaida MJ , Rochtus A , Dal Peraro M , Creemers JW |
| Ref : JCI Insight , : , 2024 |
| Abstract : |
| PubMedSearch : Monnens_2024_JCI.Insight__e179276 |
| PubMedID: 39078710 |
| Gene_locus related to this paper: human-PREPL |
| Title : COOH-terminal collagen Q (COLQ) mutants causing human deficiency of endplate acetylcholinesterase impair the interaction of ColQ with proteins of the basal lamina - Arredondo_2014_Hum.Genet_133_599 |
| Author(s) : Arredondo J , Lara M , Ng F , Gochez DA , Lee DC , Logia SP , Nguyen J , Maselli RA |
| Ref : Hum Genet , 133 :599 , 2014 |
| Abstract : |
| PubMedSearch : Arredondo_2014_Hum.Genet_133_599 |
| PubMedID: 24281389 |
| Title : LG2 agrin mutation causing severe congenital myasthenic syndrome mimics functional characteristics of non-neural (z-) agrin - Maselli_2012_Hum.Genet_131_1123 |
| Author(s) : Maselli RA , Fernandez JM , Arredondo J , Navarro C , Ngo M , Beeson D , Cagney O , Williams DC , Wollmann RL , Yarov-Yarovoy V , Ferns MJ |
| Ref : Hum Genet , 131 :1123 , 2012 |
| Abstract : |
| PubMedSearch : Maselli_2012_Hum.Genet_131_1123 |
| PubMedID: 22205389 |
| Title : Acute severe animal model of anti-muscle-specific kinase myasthenia: combined postsynaptic and presynaptic changes - Richman_2012_Arch.Neurol_69_453 |
| Author(s) : Richman DP , Nishi K , Morell SW , Chang JM , Ferns MJ , Wollmann RL , Maselli RA , Schnier J , Agius MA |
| Ref : Archives of Neurology , 69 :453 , 2012 |
| Abstract : |
| PubMedSearch : Richman_2012_Arch.Neurol_69_453 |
| PubMedID: 22158720 |
| Title : Protection of human muscle acetylcholinesterase from soman by pyridostigmine bromide - Maselli_2011_Muscle.Nerve_43_591 |
| Author(s) : Maselli RA , Henderson JD , Ng J , Follette D , Graves G , Wilson BW |
| Ref : Muscle & Nerve , 43 :591 , 2011 |
| Abstract : |
| PubMedSearch : Maselli_2011_Muscle.Nerve_43_591 |
| PubMedID: 21404290 |
| Title : Mutations in LAMB2 causing a severe form of synaptic congenital myasthenic syndrome - Maselli_2009_J.Med.Genet_46_203 |
| Author(s) : Maselli RA , Ng JJ , Anderson JA , Cagney O , Arredondo J , Williams C , Wessel HB , Abdel-Hamid H , Wollmann RL |
| Ref : Journal of Medical Genetics , 46 :203 , 2009 |
| Abstract : |
| PubMedSearch : Maselli_2009_J.Med.Genet_46_203 |
| PubMedID: 19251977 |
| Title : Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2 - Maselli_2003_Neurology_61_1743 |
| Author(s) : Maselli RA , Wan J , Dunne V , Graves M , Baloh RW , Wollmann RL , Jen J |
| Ref : Neurology , 61 :1743 , 2003 |
| Abstract : |
| PubMedSearch : Maselli_2003_Neurology_61_1743 |
| PubMedID: 14694040 |
| Title : Rhodamine-labeled alpha-bungarotoxin allows visualization of end plates in congenital end plate acetylcholinesterase deficiency (CEAD) - |
| Author(s) : Agius MA , Maselli RA , Zhu S , Fairclough RH , Lin MY , Ellis W |
| Ref : Annals of the New York Academy of Sciences , 841 :207 , 1998 |
| PubMedID: 9668242 |
| Title : Function and ultrastructure of the neuromuscular junction in post-polio syndrome - Maselli_1995_Ann.N.Y.Acad.Sci_753_129 |
| Author(s) : Maselli RA , Wollmann R , Roos R |
| Ref : Annals of the New York Academy of Sciences , 753 :129 , 1995 |
| Abstract : |
| PubMedSearch : Maselli_1995_Ann.N.Y.Acad.Sci_753_129 |
| PubMedID: 7611622 |