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Cited by in F6Publishing
For: Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study. Orphanet J Rare Dis 2018;13:170. [PMID: 30257713 DOI: 10.1186/s13023-018-0863-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 16] [Article Influence: 4.3] [Reference Citation Analysis]
Number Citing Articles
1 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]
2 Ambrosini A, Baldessari D, Pozzi S, Battaglia M, Beltrami E, Merico AM, Rasconi M, Monaco L. Fondazione Telethon and Unione Italiana Lotta alla Distrofia Muscolare, a successful partnership for neuromuscular healthcare research of value for patients. Orphanet J Rare Dis 2021;16:408. [PMID: 34600567 DOI: 10.1186/s13023-021-02047-1] [Reference Citation Analysis]
3 Ticci C, Cassandrini D, Rubegni A, Riva B, Vattemi G, Matà S, Ricci G, Baldacci J, Guglielmi V, Di Muzio A, Malandrini A, Tonin P, Siciliano G, Federico A, Genazzani AA, Santorelli FM, Merlini L. Expanding the clinical and genetic spectrum of pathogenic variants in STIM1. Muscle Nerve 2021. [PMID: 34368974 DOI: 10.1002/mus.27391] [Cited by in F6Publishing: 2] [Reference Citation Analysis]
4 Liu Z, Wang Y, Yang F, Yang Q, Mo X, Burstein E, Jia D, Cai XT, Tu Y. GMPPB-congenital disorders of glycosylation associate with decreased enzymatic activity of GMPPB. Mol Biomed 2021;2:13. [PMID: 35006422 DOI: 10.1186/s43556-021-00027-2] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 2.0] [Reference Citation Analysis]
5 Deschauer M, Hengel H, Rupprich K, Kreiß M, Schlotter-Weigel B, Grimmel M, Admard J, Schneider I, Alhaddad B, Gazou A, Sturm M, Vorgerd M, Balousha G, Balousha O, Falna M, Kirschke JS, Kornblum C, Jordan B, Kraya T, Strom TM, Weis J, Schöls L, Schara U, Zierz S, Riess O, Meitinger T, Haack TB. Bi-allelic truncating mutations in VWA1 cause neuromyopathy. Brain 2021;144:574-83. [PMID: 33459760 DOI: 10.1093/brain/awaa418] [Cited by in Crossref: 2] [Cited by in F6Publishing: 7] [Article Influence: 2.0] [Reference Citation Analysis]
6 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 F6Publishing: 3] [Reference Citation Analysis]
7 Song D, Dai Y, Chen X, Fu X, Chang X, Wang N, Zhang C, Yan C, Zheng H, Wu L, Jiang L, Hua Y, Yang H, Wang Z, Dai T, Zhu W, Han C, Yuan Y, Kobayashi K, Toda T, Xiong H. Genetic variations and clinical spectrum of dystroglycanopathy in a large cohort of Chinese patients. Clin Genet 2021;99:384-95. [PMID: 33200426 DOI: 10.1111/cge.13886] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
8 Ten Dam L, de Visser M, Ginjaar IB, van Duyvenvoorde HA, van Koningsbruggen S, van der Kooi AJ. Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey. J Neuromuscul Dis 2021;8:261-72. [PMID: 33386810 DOI: 10.3233/JND-200585] [Reference Citation Analysis]
9 Thompson R, Spendiff S, Roos A, Bourque PR, Warman Chardon J, Kirschner J, Horvath R, Lochmüller H. Advances in the diagnosis of inherited neuromuscular diseases and implications for therapy development. Lancet Neurol 2020;19:522-32. [PMID: 32470424 DOI: 10.1016/S1474-4422(20)30028-4] [Cited by in Crossref: 14] [Cited by in F6Publishing: 9] [Article Influence: 7.0] [Reference Citation Analysis]
10 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: 13] [Cited by in F6Publishing: 17] [Article Influence: 4.3] [Reference Citation Analysis]
11 Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D. Next-generation sequencing approach to hyperCKemia: A 2-year cohort study. Neurol Genet 2019;5:e352. [PMID: 31517061 DOI: 10.1212/NXG.0000000000000352] [Cited by in Crossref: 8] [Cited by in F6Publishing: 14] [Article Influence: 2.7] [Reference Citation Analysis]
12 Dieterich K, Kimber E, Hall JG. Central nervous system involvement in arthrogryposis multiplex congenita: Overview of causes, diagnosis, and care. Am J Med Genet C Semin Med Genet 2019;181:345-53. [PMID: 31410997 DOI: 10.1002/ajmg.c.31732] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 1.7] [Reference Citation Analysis]
13 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: 5] [Article Influence: 2.0] [Reference Citation Analysis]
14 Tian WT, Zhou HY, Zhan FX, Zhu ZY, Yang J, Chen SD, Luan XH, Cao L. Lysosomal degradation of GMPPB is associated with limb-girdle muscular dystrophy type 2T. Ann Clin Transl Neurol 2019;6:1062-71. [PMID: 31211170 DOI: 10.1002/acn3.787] [Cited by in Crossref: 2] [Cited by in F6Publishing: 4] [Article Influence: 0.7] [Reference Citation Analysis]
15 van Tol W, Michelakakis H, Georgiadou E, van den Bergh P, Moraitou M, Papadimas GK, Papadopoulos C, Huijben K, Alsady M, Willemsen MA, Lefeber DJ. Toward understanding tissue-specific symptoms in dolichol-phosphate-mannose synthesis disorders; insight from DPM3-CDG. J Inherit Metab Dis 2019;42:984-92. [PMID: 30931530 DOI: 10.1002/jimd.12095] [Cited by in Crossref: 3] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
16 Nickolls AR, Bönnemann CG. The roles of dystroglycan in the nervous system: insights from animal models of muscular dystrophy. Dis Model Mech 2018;11:dmm035931. [PMID: 30578246 DOI: 10.1242/dmm.035931] [Cited by in Crossref: 23] [Cited by in F6Publishing: 28] [Article Influence: 5.8] [Reference Citation Analysis]