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For: Montagnese F, Klupp E, Karampinos DC, Biskup S, Gläser D, Kirschke JS, Schoser B. Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy. Muscle Nerve 2017;56:334-40. [PMID: 27874200 DOI: 10.1002/mus.25485] [Cited by in Crossref: 17] [Cited by in F6Publishing: 18] [Article Influence: 3.4] [Reference Citation Analysis]
Number Citing Articles
1 Mohamadian M, Rastegar M, Pasamanesh N, Ghadiri A, Ghandil P, Naseri M. Clinical and Molecular Spectrum of Muscular Dystrophies (MDs) with Intellectual Disability (ID): a Comprehensive Overview. J Mol Neurosci 2021. [PMID: 34727324 DOI: 10.1007/s12031-021-01933-4] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 3.0] [Reference Citation Analysis]
2 Siddiqui S, Polavarapu K, Bardhan M, Preethish-Kumar V, Joshi A, Nashi S, Vengalil S, Raju S, Chawla T, Leena S, Mathur A, Nayak S, Mohan D, Shamim U, Prasad C, Lochmüller H, Faruq M, Nalini A. Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation. J Neuromuscul Dis 2021. [PMID: 34633329 DOI: 10.3233/JND-200628] [Reference Citation Analysis]
3 Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, Sharma P, Parveen S, Seth M, Vengalil S, Chawla T, Shingavi L, Shamim U, Nayak S, Vivekanand A, Töpf A, Roos A, Horvath R, Lochmüller H, Nandeesh B, Arunachal G, Nalini A, Faruq M. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. Neurogenetics 2021. [PMID: 34333724 DOI: 10.1007/s10048-021-00658-1] [Reference Citation Analysis]
4 Chaya T, Patel S, Smith EM, Lam A, Miller EN, Clupper M, Kervin K, Tanis JE. A C. elegans genome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function. G3 (Bethesda) 2021;11:jkab047. [PMID: 33713125 DOI: 10.1093/g3journal/jkab047] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
5 Zhao Y, Li Y, Bian Y, Yao S, Liu P, Yu M, Zhang W, Wang Z, Yuan Y. Congenital myasthenic syndrome in China: genetic and myopathological characterization. Ann Clin Transl Neurol 2021;8:898-907. [PMID: 33756069 DOI: 10.1002/acn3.51346] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 3.0] [Reference Citation Analysis]
6 Chaya T, Patel S, Smith EM, Lam A, Miller EN, Clupper M, Kervin K, Tanis J. AC. elegansgenome-wide RNAi screen for altered levamisole sensitivity identifies genes required for muscle function.. [DOI: 10.1101/2020.12.01.407213] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
7 Bockhorst J, Wicklund M. Limb Girdle Muscular Dystrophies. Neurol Clin 2020;38:493-504. [PMID: 32703463 DOI: 10.1016/j.ncl.2020.03.009] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
8 Sun L, Shen D, Xiong T, Zhou Z, Lu X, Cui F. Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review. Bosn J Basic Med Sci 2020;20:275-80. [PMID: 30684953 DOI: 10.17305/bjbms.2019.3992] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
9 Gonzalez-Perez P, Smith C, Sebetka WL, Gedlinske A, Perlman S, Mathews KD. Clinical and electrophysiological evaluation of myasthenic features in an alpha-dystroglycanopathy cohort (FKRP-predominant). Neuromuscul Disord 2020;30:213-8. [PMID: 32115343 DOI: 10.1016/j.nmd.2020.01.002] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
10 Liang W, Nishino I. Limb-girdle muscular dystrophy. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease 2020. [DOI: 10.1016/b978-0-12-813866-3.00025-4] [Reference Citation Analysis]
11 Nicolau S, Kao JC, Liewluck T. Trouble at the junction: When myopathy and myasthenia overlap. Muscle Nerve 2019;60:648-57. [PMID: 31449669 DOI: 10.1002/mus.26676] [Cited by in Crossref: 20] [Cited by in F6Publishing: 21] [Article Influence: 6.7] [Reference Citation Analysis]
12 Nicolau S, Liewluck T, Shen XM, Selcen D, Engel AG, Milone M. A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission. Neuromuscul Disord 2019;29:614-7. [PMID: 31378432 DOI: 10.1016/j.nmd.2019.07.001] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
13 Nicole S, Azuma Y, Bauché S, Eymard B, Lochmüller H, Slater C. Congenital Myasthenic Syndromes or Inherited Disorders of Neuromuscular Transmission: Recent Discoveries and Open Questions. J Neuromuscul Dis 2017;4:269-84. [PMID: 29125502 DOI: 10.3233/JND-170257] [Cited by in Crossref: 27] [Cited by in F6Publishing: 28] [Article Influence: 9.0] [Reference Citation Analysis]
14 Finsterer J. Congenital myasthenic syndromes. Orphanet J Rare Dis 2019;14:57. [PMID: 30808424 DOI: 10.1186/s13023-019-1025-5] [Cited by in Crossref: 64] [Cited by in F6Publishing: 66] [Article Influence: 21.3] [Reference Citation Analysis]
15 Liewluck T, Milone M. Untangling the complexity of limb-girdle muscular dystrophies. Muscle Nerve 2018;58:167-77. [PMID: 29350766 DOI: 10.1002/mus.26077] [Cited by in Crossref: 59] [Cited by in F6Publishing: 60] [Article Influence: 14.8] [Reference Citation Analysis]
16 Sarkozy A, Torelli S, Mein R, Henderson M, Phadke R, Feng L, Sewry C, Ala P, Yau M, Bertoli M, Willis T, Hammans S, Manzur A, Sframeli M, Norwood F, Rakowicz W, Radunovic A, Vaidya SS, Parton M, Walker M, Marino S, Offiah C, Farrugia ME, Mamutse G, Marini-Bettolo C, Wraige E, Beeson D, Lochmüller H, Straub V, Bushby K, Barresi R, Muntoni F. Mobility shift of beta-dystroglycan as a marker of GMPPB gene-related muscular dystrophy. J Neurol Neurosurg Psychiatry 2018;89:762-8. [PMID: 29437916 DOI: 10.1136/jnnp-2017-316956] [Cited by in Crossref: 12] [Cited by in F6Publishing: 13] [Article Influence: 3.0] [Reference Citation Analysis]
17 Bauché S, Vellieux G, Sternberg D, Fontenille M, De Bruyckere E, Davoine C, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S. Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy. J Neurol 2017;264:1791-803. [DOI: 10.1007/s00415-017-8569-x] [Cited by in Crossref: 20] [Cited by in F6Publishing: 20] [Article Influence: 4.0] [Reference Citation Analysis]
18 Panicucci C, Fiorillo C, Moro F, Astrea G, Brisca G, Trucco F, Pedemonte M, Lanteri P, Sciarretta L, Minetti C, Santorelli FM, Bruno C. Mutations in GMPPB Presenting with Pseudometabolic Myopathy. JIMD Rep 2018;38:23-31. [PMID: 28456886 DOI: 10.1007/8904_2017_25] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.0] [Reference Citation Analysis]