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For: Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients. Neurology 2016;87:71-6. [PMID: 27281536 DOI: 10.1212/WNL.0000000000002800] [Cited by in Crossref: 62] [Cited by in F6Publishing: 68] [Article Influence: 10.3] [Reference Citation Analysis]
Number Citing Articles
1 Spadafora P, Qualtieri A, Cavalcanti F, Di Palma G, Gallo O, De Benedittis S, Cerantonio A, Citrigno L. A Novel Homozygous Variant in DYSF Gene Is Associated with Autosomal Recessive Limb Girdle Muscular Dystrophy R2/2B. IJMS 2022;23:8932. [DOI: 10.3390/ijms23168932] [Reference Citation Analysis]
2 Winckler PB, Chwal BC, Dos Santos MAR, Burguêz D, Polese-Bonatto M, Zanoteli E, Siebert M, Vairo FPE, Chaves MLF, Saute JAM. Diagnostic yield of multi-gene panel for muscular dystrophies and other hereditary myopathies. Neurol Sci 2022;43:4473-81. [PMID: 35175440 DOI: 10.1007/s10072-022-05934-y] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
3 Cerino M, González-Hormazábal P, Abaji M, Courrier S, Puppo F, Mathieu Y, Trangulao A, Earle N, Castiglioni C, Díaz J, Campero M, Hughes R, Vargas C, Cortés R, Kleinsteuber K, Acosta I, Urtizberea JA, Lévy N, Bartoli M, Krahn M, Jara L, Caviedes P, Gorokhova S, Bevilacqua JA. Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population. Genes (Basel) 2022;13:1076. [PMID: 35741838 DOI: 10.3390/genes13061076] [Reference Citation Analysis]
4 Khadilkar SV, Halani HA, Dastur R, Gaitonde PS, Oza H, Hegd M. Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India. J Neuromuscul Dis 2022. [PMID: 35723113 DOI: 10.3233/JND-220801] [Reference Citation Analysis]
5 Masri AT, Oweis L, Qudah AA, El-shanti H. Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources. Clinical Neurology and Neurosurgery 2022;217:107271. [DOI: 10.1016/j.clineuro.2022.107271] [Reference Citation Analysis]
6 Barbosa-gouveia S, Vázquez-mosquera ME, González-vioque E, Hermida-ameijeiras Á, Sánchez-pintos P, de Castro MJ, León SR, Gil-fournier B, Domínguez-gonzález C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies. JCM 2022;11:2750. [DOI: 10.3390/jcm11102750] [Reference Citation Analysis]
7 Cutrona C, Pede E, De Sanctis R, Coratti G, Tiberi E, Luciano R, Pera MC, Velli C, Capasso A, Vento G, Romeo DM, Pane M, Mercuri E. Assessing floppy infants: a new module. Eur J Pediatr 2022. [PMID: 35504981 DOI: 10.1007/s00431-022-04476-x] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
8 El Kadiri Y, Ratbi I, Sefiani A, Lyahyai J. Clinical and molecular genetic analysis of early-onset myopathy with fatal cardiomyopathy: Novel biallelic M-line TTN mutation and review of the literature. Gene Reports 2022. [DOI: 10.1016/j.genrep.2022.101587] [Reference Citation Analysis]
9 Musumeci O, Pugliese A, Oteri R, Volta S, Ciranni A, Moggio M, Rodolico C, Toscano A. A new phenotype of muscle glycogen synthase deficiency (GSD0B) characterized by an adult onset myopathy without cardiomyopathy. Neuromuscular Disorders 2022. [DOI: 10.1016/j.nmd.2022.03.008] [Reference Citation Analysis]
10 Gemelli C, Traverso M, Trevisan L, Fabbri S, Scarsi E, Carlini B, Prada V, Mongini T, Ruggiero L, Patrone S, Gallone S, Iodice R, Pisciotta L, Zara F, Origone P, Rota E, Minetti C, Bruno C, Schenone A, Mandich P, Fiorillo C, Grandis M. An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia. Muscle Nerve 2021. [PMID: 34687219 DOI: 10.1002/mus.27448] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
11 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]
12 Ziccone V, Rodolico C, Rizzo V, Tupler R, Buccafusca M, Toscano A. Facioscapulohumeral Muscular Dystrophy and Poliomyelitis followed by Multiple Sclerosis: A "triple trouble" case report and review of the literature on the association of MS and muscle disorders. Neuromuscul Disord 2021;31:1179-85. [PMID: 34446310 DOI: 10.1016/j.nmd.2021.06.006] [Reference Citation Analysis]
13 Johari M, Sarparanta J, Vihola A, Jonson PH, Savarese M, Jokela M, Torella A, Piluso G, Said E, Vella N, Cauchi M, Magot A, Magri F, Mauri E, Kornblum C, Reimann J, Stojkovic T, Romero NB, Luque H, Huovinen S, Lahermo P, Donner K, Comi GP, Nigro V, Hackman P, Udd B. Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions. Acta Neuropathol 2021;142:375-93. [PMID: 33974137 DOI: 10.1007/s00401-021-02319-x] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
14 Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M. An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families. Genes (Basel) 2021;12:1199. [PMID: 34440373 DOI: 10.3390/genes12081199] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 2.0] [Reference Citation Analysis]
15 Nicolau S, Milone M, Liewluck T. Guidelines for genetic testing of muscle and neuromuscular junction disorders. Muscle Nerve 2021;64:255-69. [PMID: 34133031 DOI: 10.1002/mus.27337] [Reference Citation Analysis]
16 Babić Božović I, Maver A, Leonardis L, Meznaric M, Osredkar D, Peterlin B. Diagnostic yield of exome sequencing in myopathies: Experience of a Slovenian tertiary centre. PLoS One 2021;16:e0252953. [PMID: 34106991 DOI: 10.1371/journal.pone.0252953] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
17 Yubero D, Natera-de Benito D, Pijuan J, Armstrong J, Martorell L, Fernàndez G, Maynou J, Jou C, Roldan M, Ortez C, Nascimento A, Hoenicka J, Palau F. The Increasing Impact of Translational Research in the Molecular Diagnostics of Neuromuscular Diseases. Int J Mol Sci 2021;22:4274. [PMID: 33924139 DOI: 10.3390/ijms22084274] [Cited by in F6Publishing: 5] [Reference Citation Analysis]
18 Onore ME, Torella A, Musacchia F, D'Ambrosio P, Zanobio M, Del Vecchio Blanco F, Piluso G, Nigro V. Linked-Read Whole Genome Sequencing Solves a Double DMD Gene Rearrangement. Genes (Basel) 2021;12:133. [PMID: 33494189 DOI: 10.3390/genes12020133] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
19 Savarese M, Sarparanta J, Vihola A, Jonson PH, Johari M, Rusanen S, Hackman P, Udd B. Panorama of the distal myopathies. Acta Myol 2020;39:245-65. [PMID: 33458580 DOI: 10.36185/2532-1900-028] [Cited by in F6Publishing: 7] [Reference Citation Analysis]
20 Chakravorty S, Nallamilli BRR, Khadilkar SV, Singla MB, Bhutada A, Dastur R, Gaitonde PS, Rufibach LE, Gloster L, Hegde M. Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent. Front Neurol 2020;11:559327. [PMID: 33250842 DOI: 10.3389/fneur.2020.559327] [Cited by in Crossref: 5] [Cited by in F6Publishing: 7] [Article Influence: 2.5] [Reference Citation Analysis]
21 Peterlin B, Gualandi F, Maver A, Servidei S, van der Maarel SM, Lamy F, Mejat A, Evangelista T, Ferlini A. Genetic testing offer for inherited neuromuscular diseases within the EURO-NMD reference network: A European survey study. PLoS One 2020;15:e0239329. [PMID: 32946487 DOI: 10.1371/journal.pone.0239329] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 1.5] [Reference Citation Analysis]
22 Torella A, Zanobio M, Zeuli R, Del Vecchio Blanco F, Savarese M, Giugliano T, Garofalo A, Piluso G, Politano L, Nigro V. The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene. PLoS One 2020;15:e0237803. [PMID: 32813700 DOI: 10.1371/journal.pone.0237803] [Cited by in Crossref: 4] [Cited by in F6Publishing: 6] [Article Influence: 2.0] [Reference Citation Analysis]
23 Telese R, Pagliarani S, Lerario A, Ciscato P, Fagiolari G, Cassandrini D, Grimoldi N, Conte G, Cinnante C, Santorelli FM, Comi GP, Sciacco M, Peverelli L. MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form. Mol Genet Genomic Med 2020;8:e1320. [PMID: 32578970 DOI: 10.1002/mgg3.1320] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 1.0] [Reference Citation Analysis]
24 Gonzalez-Quereda L, Rodriguez MJ, Diaz-Manera J, Alonso-Perez J, Gallardo E, Nascimento A, Ortez C, Natera-de Benito D, Olive M, Gonzalez-Mera L, Munain AL, Zulaica M, Poza JJ, Jerico I, Torne L, Riera P, Milisenda J, Sanchez A, Garrabou G, Llano I, Madruga-Garrido M, Gallano P. Targeted Next-Generation Sequencing in a Large Cohort of Genetically Undiagnosed Patients with Neuromuscular Disorders in Spain. Genes (Basel) 2020;11:E539. [PMID: 32403337 DOI: 10.3390/genes11050539] [Cited by in Crossref: 3] [Cited by in F6Publishing: 7] [Article Influence: 1.5] [Reference Citation Analysis]
25 Ghaoui R, Needham M; Royal Adelaide Hospital, Australia. Investigation of hereditary muscle disorders in the genomic era. ACNR 2020;19:17-20. [DOI: 10.47795/ayyz8676] [Reference Citation Analysis]
26 Vita GL, Vita G. Is it the right time for an infant screening for Duchenne muscular dystrophy? Neurol Sci 2020;41:1677-83. [PMID: 32112218 DOI: 10.1007/s10072-020-04307-7] [Cited by in Crossref: 1] [Cited by in F6Publishing: 4] [Article Influence: 0.5] [Reference Citation Analysis]
27 Bevilacqua JA, Guecaimburu Ehuletche MDR, Perna A, Dubrovsky A, Franca MC Jr, Vargas S, Hegde M, Claeys KG, Straub V, Daba N, Faria R, Periquet M, Sparks S, Thibault N, Araujo R. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease. Orphanet J Rare Dis 2020;15:11. [PMID: 31931849 DOI: 10.1186/s13023-019-1291-2] [Cited by in Crossref: 10] [Cited by in F6Publishing: 11] [Article Influence: 5.0] [Reference Citation Analysis]
28 Fusto A, Moyle LA, Gilbert PM, Pegoraro E. Cored in the act: the use of models to understand core myopathies. Dis Model Mech 2019;12:dmm041368. [PMID: 31874912 DOI: 10.1242/dmm.041368] [Cited by in Crossref: 9] [Cited by in F6Publishing: 12] [Article Influence: 3.0] [Reference Citation Analysis]
29 Savarese M, Maggi L, Vihola A, Jonson PH, Tasca G, Ruggiero L, Bello L, Magri F, Giugliano T, Torella A, Evilä A, Di Fruscio G, Vanakker O, Gibertini S, Vercelli L, Ruggieri A, Antozzi C, Luque H, Janssens S, Pasanisi MB, Fiorillo C, Raimondi M, Ergoli M, Politano L, Bruno C, Rubegni A, Pane M, Santorelli FM, Minetti C, Angelini C, De Bleecker J, Moggio M, Mongini T, Comi GP, Santoro L, Mercuri E, Pegoraro E, Mora M, Hackman P, Udd B, Nigro V. Interpreting Genetic Variants in Titin in Patients With Muscle Disorders. JAMA Neurol 2018;75:557-65. [PMID: 29435569 DOI: 10.1001/jamaneurol.2017.4899] [Cited by in Crossref: 32] [Cited by in F6Publishing: 38] [Article Influence: 10.7] [Reference Citation Analysis]
30 Park J, Oh HM, Park HJ, Cho AR, Lee DW, Jang JH, Jang DH. Usefulness of comprehensive targeted multigene panel sequencing for neuromuscular disorders in Korean patients. Mol Genet Genomic Med 2019;7:e00947. [PMID: 31475473 DOI: 10.1002/mgg3.947] [Cited by in Crossref: 4] [Cited by in F6Publishing: 9] [Article Influence: 1.3] [Reference Citation Analysis]
31 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]
32 Musumeci O, Toscano A. Diagnostic tools in late onset Pompe disease (LOPD). Ann Transl Med 2019;7:286. [PMID: 31392198 DOI: 10.21037/atm.2019.06.60] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 1.3] [Reference Citation Analysis]
33 Ganapathy A, Mishra A, Soni MR, Kumar P, Sadagopan M, Kanthi AV, Patric IRP, George S, Sridharan A, Thyagarajan TC, Aswathy SL, Vidya HK, Chinnappa SM, Nayanala S, Prakash MB, Raghavendrachar VG, Parulekar M, Gowda VK, Nampoothiri S, Menon RN, Pachat D, Udani V, Naik N, Kamate M, Devi ARR, Mohammed Kunju PA, Nair M, Hegde AU, Kumar MP, Sundaram S, Tilak P, Puri RD, Shah K, Sheth J, Hasan Q, Sheth F, Agrawal P, Katragadda S, Veeramachaneni V, Chandru V, Hariharan R, Mannan AU. Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients. J Neurol 2019;266:1919-26. [PMID: 31069529 DOI: 10.1007/s00415-019-09358-1] [Cited by in Crossref: 9] [Cited by in F6Publishing: 11] [Article Influence: 3.0] [Reference Citation Analysis]
34 Borisovna KO, Yurievna KA, Yurievich TK, Igorevna KO, Olegovich KD, Igorevna DA, Timofeevna BT, Vyacheslavovna ZN, Ivanovna SE, Alekseevich SP, Vladimirovich IV. Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report. BMC Pediatr 2019;19:98. [PMID: 30961548 DOI: 10.1186/s12887-019-1470-2] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.3] [Reference Citation Analysis]
35 Paoletti M, Pichiecchio A, Cotti Piccinelli S, Tasca G, Berardinelli AL, Padovani A, Filosto M. Advances in Quantitative Imaging of Genetic and Acquired Myopathies: Clinical Applications and Perspectives. Front Neurol 2019;10:78. [PMID: 30804884 DOI: 10.3389/fneur.2019.00078] [Cited by in Crossref: 15] [Cited by in F6Publishing: 19] [Article Influence: 5.0] [Reference Citation Analysis]
36 Nallamilli BRR, Chakravorty S, Kesari A, Tanner A, Ankala A, Schneider T, da Silva C, Beadling R, Alexander JJ, Askree SH, Whitt Z, Bean L, Collins C, Khadilkar S, Gaitonde P, Dastur R, Wicklund M, Mozaffar T, Harms M, Rufibach L, Mittal P, Hegde M. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients. Ann Clin Transl Neurol 2018;5:1574-87. [PMID: 30564623 DOI: 10.1002/acn3.649] [Cited by in Crossref: 62] [Cited by in F6Publishing: 69] [Article Influence: 15.5] [Reference Citation Analysis]
37 Giugliano T, Savarese M, Garofalo A, Picillo E, Fiorillo C, D'Amico A, Maggi L, Ruggiero L, Vercelli L, Magri F, Fattori F, Torella A, Ergoli M, Rubegni A, Fanin M, Musumeci O, Bleecker J, Peverelli L, Moggio M, Mercuri E, Toscano A, Mora M, Santoro L, Mongini T, Bertini E, Bruno C, Minetti C, Comi GP, Santorelli FM, Angelini C, Politano L, Piluso G, Nigro V. Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients. Genes (Basel) 2018;9:E524. [PMID: 30373198 DOI: 10.3390/genes9110524] [Cited by in Crossref: 4] [Cited by in F6Publishing: 5] [Article Influence: 1.0] [Reference Citation Analysis]
38 Parisi D, Musumeci O, Mondello S, Brizzi T, Oteri R, Migliorato A, Ciranni A, Mongini TE, Rodolico C, Vita G, Toscano A. Vacuolated PAS-Positive Lymphocytes on Blood Smear: An Easy Screening Tool and a Possible Biomarker for Monitoring Therapeutic Responses in Late Onset Pompe Disease (LOPD). Front Neurol 2018;9:880. [PMID: 30405515 DOI: 10.3389/fneur.2018.00880] [Cited by in Crossref: 3] [Cited by in F6Publishing: 5] [Article Influence: 0.8] [Reference Citation Analysis]
39 Savarese M, Sarparanta J, Vihola A, Udd B, Hackman P. Increasing Role of Titin Mutations in Neuromuscular Disorders. J Neuromuscul Dis 2016;3:293-308. [PMID: 27854229 DOI: 10.3233/JND-160158] [Cited by in Crossref: 69] [Cited by in F6Publishing: 72] [Article Influence: 17.3] [Reference Citation Analysis]
40 Dusanic M, Dekomien G, Lücke T, Vorgerd M, Weis J, Epplen JT, Köhler C, Hoffjan S. Novel Nonsense Mutation in SLC39A13 Initially Presenting as Myopathy: Case Report and Review of the Literature. Mol Syndromol 2018;9:100-9. [PMID: 29593477 DOI: 10.1159/000485881] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.5] [Reference Citation Analysis]
41 Johnson K, Töpf A, Bertoli M, Phillips L, Claeys KG, Stojanovic VR, Perić S, Hahn A, Maddison P, Akay E, Bastian AE, Łusakowska A, Kostera-Pruszczyk A, Lek M, Xu L, MacArthur DG, Straub V. Identification of GAA variants through whole exome sequencing targeted to a cohort of 606 patients with unexplained limb-girdle muscle weakness. Orphanet J Rare Dis 2017;12:173. [PMID: 29149851 DOI: 10.1186/s13023-017-0722-1] [Cited by in Crossref: 16] [Cited by in F6Publishing: 14] [Article Influence: 3.2] [Reference Citation Analysis]
42 Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Congenital myopathies: clinical phenotypes and new diagnostic tools. Ital J Pediatr. 2017;43:101. [PMID: 29141652 DOI: 10.1186/s13052-017-0419-z] [Cited by in Crossref: 37] [Cited by in F6Publishing: 38] [Article Influence: 7.4] [Reference Citation Analysis]
43 Harris E, Topf A, Barresi R, Hudson J, Powell H, Tellez J, Hicks D, Porter A, Bertoli M, Evangelista T, Marini-Betollo C, Magnússon Ó, Lek M, MacArthur D, Bushby K, Lochmüller H, Straub V. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy. Orphanet J Rare Dis 2017;12:151. [PMID: 28877744 DOI: 10.1186/s13023-017-0699-9] [Cited by in Crossref: 23] [Cited by in F6Publishing: 28] [Article Influence: 4.6] [Reference Citation Analysis]
44 Yu M, Zheng Y, Jin S, Gang Q, Wang Q, Yu P, Lv H, Zhang W, Yuan Y, Wang Z. Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing. PLoS One 2017;12:e0175343. [PMID: 28403181 DOI: 10.1371/journal.pone.0175343] [Cited by in Crossref: 31] [Cited by in F6Publishing: 37] [Article Influence: 6.2] [Reference Citation Analysis]