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For: Flex E, Niceta M, Cecchetti S, Thiffault I, Au MG, Capuano A, Piermarini E, Ivanova AA, Francis JW, Chillemi G, Chandramouli B, Carpentieri G, Haaxma CA, Ciolfi A, Pizzi S, Douglas GV, Levine K, Sferra A, Dentici ML, Pfundt RR, Le Pichon JB, Farrow E, Baas F, Piemonte F, Dallapiccola B, Graham JM Jr, Saunders CJ, Bertini E, Kahn RA, Koolen DA, Tartaglia M. Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy. Am J Hum Genet 2016;99:962-73. [PMID: 27666370 DOI: 10.1016/j.ajhg.2016.08.003] [Cited by in Crossref: 55] [Cited by in F6Publishing: 50] [Article Influence: 9.2] [Reference Citation Analysis]
Number Citing Articles
1 Muto V, Flex E, Kupchinsky Z, Primiano G, Galehdari H, Dehghani M, Cecchetti S, Carpentieri G, Rizza T, Mazaheri N, Sedaghat A, Vahidi Mehrjardi MY, Traversa A, Di Nottia M, Kousi MM, Jamshidi Y, Ciolfi A, Caputo V, Malamiri RA, Pantaleoni F, Martinelli S, Jeffries AR, Zeighami J, Sherafat A, Di Giuda D, Shariati GR, Carrozzo R, Katsanis N, Maroofian R, Servidei S, Tartaglia M. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration. Neurology 2018;91:e319-30. [PMID: 29959261 DOI: 10.1212/WNL.0000000000005869] [Cited by in Crossref: 22] [Cited by in F6Publishing: 9] [Article Influence: 5.5] [Reference Citation Analysis]
2 Klingler E, Francis F, Jabaudon D, Cappello S. Mapping the molecular and cellular complexity of cortical malformations. Science 2021;371:eaba4517. [PMID: 33479124 DOI: 10.1126/science.aba4517] [Cited by in Crossref: 9] [Cited by in F6Publishing: 5] [Article Influence: 9.0] [Reference Citation Analysis]
3 Lin YC, Niceta M, Muto V, Vona B, Pagnamenta AT, Maroofian R, Beetz C, van Duyvenvoorde H, Dentici ML, Lauffer P, Vallian S, Ciolfi A, Pizzi S, Bauer P, Grüning NM, Bellacchio E, Del Fattore A, Petrini S, Shaheen R, Tiosano D, Halloun R, Pode-Shakked B, Albayrak HM, Işık E, Wit JM, Dittrich M, Freire BL, Bertola DR, Jorge AAL, Barel O, Sabir AH, Al Tenaiji AMJ, Taji SM, Al-Sannaa N, Al-Abdulwahed H, Digilio MC, Irving M, Anikster Y, Bhavani GSL, Girisha KM, Haaf T, Taylor JC, Dallapiccola B, Alkuraya FS, Yang RB, Tartaglia M; Genomics England Research Consortium. SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling. Am J Hum Genet 2021;108:115-33. [PMID: 33308444 DOI: 10.1016/j.ajhg.2020.11.015] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 11.0] [Reference Citation Analysis]
4 Peng M, Chen Y, Wang W, He Z, Dai W, Lin Z, Yang Z, Gong M, Yin Y, Han B, Zeng Y, Wang Y. Integration of small RNAs, degradome, and transcriptome sequencing provides insights into the differences between Shizhu ginseng and Yuan ginseng. J Plant Biochem Biotechnol 2021;30:429-39. [DOI: 10.1007/s13562-020-00613-5] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
5 Grønborg S, Risom L, Ek J, Larsen KB, Scheie D, Petkov Y, Larsen VA, Dunø M, Joensen F, Østergaard E. A Faroese founder variant in TBCD causes early onset, progressive encephalopathy with a homogenous clinical course. Eur J Hum Genet 2018;26:1512-20. [PMID: 29921875 DOI: 10.1038/s41431-018-0204-5] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
6 Francis JW, Newman LE, Cunningham LA, Kahn RA. A Trimer Consisting of the Tubulin-specific Chaperone D (TBCD), Regulatory GTPase ARL2, and β-Tubulin Is Required for Maintaining the Microtubule Network. J Biol Chem 2017;292:4336-49. [PMID: 28126905 DOI: 10.1074/jbc.M116.770909] [Cited by in Crossref: 25] [Cited by in F6Publishing: 17] [Article Influence: 5.0] [Reference Citation Analysis]
7 Anttonen A, Lehesjoki A. Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. Brain 2017;140:e50-e50. [DOI: 10.1093/brain/awx157] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.4] [Reference Citation Analysis]
8 Ikeda T, Nakahara A, Nagano R, Utoyama M, Obara M, Moritake H, Uechi T, Mitsui J, Ishiura H, Yoshimura J, Doi K, Kenmochi N, Morishita S, Nishino I, Tsuji S, Nunoi H. TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy. J Hum Genet 2017;62:473-80. [PMID: 27928163 DOI: 10.1038/jhg.2016.149] [Cited by in Crossref: 7] [Cited by in F6Publishing: 8] [Article Influence: 1.2] [Reference Citation Analysis]
9 Antona V, Scalia F, Giorgio E, Radio FC, Brusco A, Oliveri M, Corsello G, Lo Celso F, Vadalà M, Conway de Macario E, Macario AJL, Cappello F, Giuffrè M. A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy. Int J Mol Sci 2020;21:E7631. [PMID: 33076433 DOI: 10.3390/ijms21207631] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
10 Flex E, Martinelli S, Van Dijck A, Ciolfi A, Cecchetti S, Coluzzi E, Pannone L, Andreoli C, Radio FC, Pizzi S, Carpentieri G, Bruselles A, Catanzaro G, Pedace L, Miele E, Carcarino E, Ge X, Chijiwa C, Lewis MES, Meuwissen M, Kenis S, Van der Aa N, Larson A, Brown K, Wasserstein MP, Skotko BG, Begtrup A, Person R, Karayiorgou M, Roos JL, Van Gassen KL, Koopmans M, Bijlsma EK, Santen GWE, Barge-Schaapveld DQCM, Ruivenkamp CAL, Hoffer MJV, Lalani SR, Streff H, Craigen WJ, Graham BH, van den Elzen APM, Kamphuis DJ, Õunap K, Reinson K, Pajusalu S, Wojcik MH, Viberti C, Di Gaetano C, Bertini E, Petrucci S, De Luca A, Rota R, Ferretti E, Matullo G, Dallapiccola B, Sgura A, Walkiewicz M, Kooy RF, Tartaglia M. Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging. Am J Hum Genet 2019;105:493-508. [PMID: 31447100 DOI: 10.1016/j.ajhg.2019.07.007] [Cited by in Crossref: 34] [Cited by in F6Publishing: 30] [Article Influence: 11.3] [Reference Citation Analysis]
11 Iacomino M, Fiorillo C, Torella A, Severino M, Broda P, Romano C, Falsaperla R, Pozzolini G, Minetti C, Striano P, Nigro V, Zara F. Spinal motor neuron involvement in a patient with homozygous PRUNE mutation. Eur J Paediatr Neurol 2018;22:541-3. [PMID: 29307700 DOI: 10.1016/j.ejpn.2017.12.005] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.2] [Reference Citation Analysis]
12 Salpietro V, Zollo M, Vandrovcova J, Ryten M, Botia JA, Ferrucci V, Manole A, Efthymiou S, Al Mutairi F, Bertini E, Tartaglia M, Houlden H; SYNAPS Study Group. The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders. Brain 2017;140:e49. [PMID: 28899015 DOI: 10.1093/brain/awx155] [Cited by in Crossref: 11] [Cited by in F6Publishing: 12] [Article Influence: 3.7] [Reference Citation Analysis]
13 Satake T. Epstein-Barr virus-based plasmid enables inheritable transgene expression in mouse cerebral cortex. PLoS One 2021;16:e0258026. [PMID: 34591902 DOI: 10.1371/journal.pone.0258026] [Reference Citation Analysis]
14 Zollo M, Ahmed M, Ferrucci V, Salpietro V, Asadzadeh F, Carotenuto M, Maroofian R, Al-Amri A, Singh R, Scognamiglio I, Mojarrad M, Musella L, Duilio A, Di Somma A, Karaca E, Rajab A, Al-Khayat A, Mohan Mohapatra T, Eslahi A, Ashrafzadeh F, Rawlins LE, Prasad R, Gupta R, Kumari P, Srivastava M, Cozzolino F, Kumar Rai S, Monti M, Harlalka GV, Simpson MA, Rich P, Al-Salmi F, Patton MA, Chioza BA, Efthymiou S, Granata F, Di Rosa G, Wiethoff S, Borgione E, Scuderi C, Mankad K, Hanna MG, Pucci P, Houlden H, Lupski JR, Crosby AH, Baple EL. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain 2017;140:940-52. [PMID: 28334956 DOI: 10.1093/brain/awx014] [Cited by in Crossref: 36] [Cited by in F6Publishing: 34] [Article Influence: 7.2] [Reference Citation Analysis]
15 Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A. A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing. Ital J Pediatr 2017;43:65. [PMID: 28768552 DOI: 10.1186/s13052-017-0383-7] [Cited by in Crossref: 7] [Cited by in F6Publishing: 7] [Article Influence: 1.4] [Reference Citation Analysis]
16 Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy. Nat Commun 2020;11:595. [PMID: 32001716 DOI: 10.1038/s41467-020-14360-7] [Cited by in Crossref: 16] [Cited by in F6Publishing: 13] [Article Influence: 8.0] [Reference Citation Analysis]
17 Li Y, Wang Z, Zhao Z, Cui Y. iTRAQ-based proteome profiling of hyposaline responses in zygotes of the Pacific oyster Crassostrea gigas. Comp Biochem Physiol Part D Genomics Proteomics 2019;30:14-24. [PMID: 30771561 DOI: 10.1016/j.cbd.2018.12.003] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 1.0] [Reference Citation Analysis]
18 Nevanlinna V, Konovalova S, Ceulemans B, Muona M, Laari A, Hilander T, Gorski K, Valanne L, Anttonen A, Tyynismaa H, Courage C, Lehesjoki A. A patient with pontocerebellar hypoplasia type 6: Novel RARS2 mutations, comparison to previously published patients and clinical distinction from PEHO syndrome. European Journal of Medical Genetics 2020;63:103766. [DOI: 10.1016/j.ejmg.2019.103766] [Cited by in Crossref: 1] [Cited by in F6Publishing: 2] [Article Influence: 0.5] [Reference Citation Analysis]
19 Bauer CK, Calligari P, Radio FC, Caputo V, Dentici ML, Falah N, High F, Pantaleoni F, Barresi S, Ciolfi A, Pizzi S, Bruselles A, Person R, Richards S, Cho MT, Claps Sepulveda DJ, Pro S, Battini R, Zampino G, Digilio MC, Bocchinfuso G, Dallapiccola B, Stella L, Tartaglia M. Mutations in KCNK4 that Affect Gating Cause a Recognizable Neurodevelopmental Syndrome. Am J Hum Genet 2018;103:621-30. [PMID: 30290154 DOI: 10.1016/j.ajhg.2018.09.001] [Cited by in Crossref: 53] [Cited by in F6Publishing: 47] [Article Influence: 13.3] [Reference Citation Analysis]
20 Carli D, Giorgio E, Pantaleoni F, Bruselles A, Barresi S, Riberi E, Licciardi F, Gazzin A, Baldassarre G, Pizzi S, Niceta M, Radio FC, Molinatto C, Montin D, Calvo PL, Ciolfi A, Fleischer N, Ferrero GB, Brusco A, Tartaglia M. NBAS pathogenic variants: Defining the associated clinical and facial phenotype and genotype–phenotype correlations. Human Mutation 2019;40:721-8. [DOI: 10.1002/humu.23734] [Cited by in Crossref: 15] [Cited by in F6Publishing: 11] [Article Influence: 5.0] [Reference Citation Analysis]
21 Al-Bakheet A, Tohary M, Khan S, Chedrawi A, Edrees A, Tous E, Al-Mousa H, Al-Otaibi L, AlShahrani S, Alsagob M, Al-Quait L, Almass R, Al-Joudi H, Monies D, Al-Semari A, Aldosary M, Daghestani M, Colak D, Kaya N, Al-Owain M. Hematological findings associated with tubulin-folding cofactors D-related encephalopathy: Expanding the phenotype. Clin Genet 2021;99:724-31. [PMID: 33506509 DOI: 10.1111/cge.13932] [Reference Citation Analysis]
22 Di Bella D, Magri S, Benzoni C, Farina L, Maccagnano C, Sarto E, Moscatelli M, Baratta S, Ciano C, Piacentini SHMJ, Draghi L, Mauro E, Pareyson D, Gellera C, Taroni F, Salsano E. Hypomyelinating leukodystrophies in adults: Clinical and genetic features. Eur J Neurol 2021;28:934-44. [PMID: 33190326 DOI: 10.1111/ene.14646] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
23 Pfeiffer JR, Bustamante AC, Kim GS, Armstrong D, Knodt AR, Koenen KC, Hariri AR, Uddin M. Associations between childhood family emotional health, fronto-limbic grey matter volume, and saliva 5mC in young adulthood. Clin Epigenetics 2021;13:68. [PMID: 33789736 DOI: 10.1186/s13148-021-01056-y] [Reference Citation Analysis]
24 Francis JW, Goswami D, Novick SJ, Pascal BD, Weikum ER, Ortlund EA, Griffin PR, Kahn RA. Nucleotide Binding to ARL2 in the TBCD∙ARL2∙β-Tubulin Complex Drives Conformational Changes in β-Tubulin. J Mol Biol 2017;429:3696-716. [PMID: 28970104 DOI: 10.1016/j.jmb.2017.09.016] [Cited by in Crossref: 12] [Cited by in F6Publishing: 10] [Article Influence: 2.4] [Reference Citation Analysis]
25 Baple EL, Houlden H, Zollo M, Crosby AH. Reply: PRUNE1: a disease-causing gene for secondary microcephaly. Brain 2017;140:e62. [PMID: 28969377 DOI: 10.1093/brain/awx199] [Reference Citation Analysis]
26 Fuemmeler BF, Dozmorov MG, Do EK, Zhang JJ, Grenier C, Huang Z, Maguire RL, Kollins SH, Hoyo C, Murphy SK. DNA Methylation in Babies Born to Nonsmoking Mothers Exposed to Secondhand Smoke during Pregnancy: An Epigenome-Wide Association Study. Environ Health Perspect 2021;129:57010. [PMID: 34009014 DOI: 10.1289/EHP8099] [Reference Citation Analysis]
27 Pode-Shakked B, Barash H, Ziv L, Gripp KW, Flex E, Barel O, Carvalho KS, Scavina M, Chillemi G, Niceta M, Eyal E, Kol N, Ben-Zeev B, Bar-Yosef O, Marek-Yagel D, Bertini E, Duker AL, Anikster Y, Tartaglia M, Raas-Rothschild A. Microcephaly, intractable seizures and developmental delay caused by biallelic variants in TBCD: further delineation of a new chaperone-mediated tubulinopathy. Clin Genet 2017;91:725-38. [PMID: 27807845 DOI: 10.1111/cge.12914] [Cited by in Crossref: 12] [Cited by in F6Publishing: 15] [Article Influence: 2.0] [Reference Citation Analysis]
28 Niceta M, Margiotti K, Digilio MC, Guida V, Bruselles A, Pizzi S, Ferraris A, Memo L, Laforgia N, Dentici ML, Consoli F, Torrente I, Ruiz-Perez VL, Dallapiccola B, Marino B, De Luca A, Tartaglia M. Biallelic mutations in DYNC2LI1 are a rare cause of Ellis-van Creveld syndrome. Clin Genet 2018;93:632-9. [PMID: 28857138 DOI: 10.1111/cge.13128] [Cited by in Crossref: 15] [Cited by in F6Publishing: 12] [Article Influence: 3.8] [Reference Citation Analysis]
29 Fasham J, Lin S, Ghosh P, Radio FC, Farrow EG, Thiffault I, Kussman J, Zhou D, Hemming R, Zahka K, Chioza BA, Rawlins LE, Wenger OK, Gunning AC, Pizzi S, Onesimo R, Zampino G, Barker E, Osawa N, Rodriguez MC, Neuhann TM, Zackai EH, Keena B, Capasso J, Levin AV, Bhoj E, Li D, Hakonarson H, Wentzensen IM, Jackson A, Chandler KE, Coban-Akdemir ZH, Posey JE, Banka S, Lupski JR, Sheppard SE, Tartaglia M, Triggs-Raine B, Crosby AH, Baple EL. Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency. Genet Med 2021:S1098-3600(21)05366-1. [PMID: 34906488 DOI: 10.1016/j.gim.2021.10.014] [Reference Citation Analysis]
30 Sferra A, Fattori F, Rizza T, Flex E, Bellacchio E, Bruselles A, Petrini S, Cecchetti S, Teson M, Restaldi F, Ciolfi A, Santorelli FM, Zanni G, Barresi S, Castiglioni C, Tartaglia M, Bertini E. Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy. Human Molecular Genetics 2018;27:1892-904. [DOI: 10.1093/hmg/ddy096] [Cited by in Crossref: 11] [Cited by in F6Publishing: 11] [Article Influence: 2.8] [Reference Citation Analysis]
31 Niceta M, Barresi S, Pantaleoni F, Capolino R, Dentici ML, Ciolfi A, Pizzi S, Bartuli A, Dallapiccola B, Tartaglia M, Digilio MC. TARP syndrome: Long-term survival, anatomic patterns of congenital heart defects, differential diagnosis and pathogenetic considerations. Eur J Med Genet 2019;62:103534. [PMID: 30189253 DOI: 10.1016/j.ejmg.2018.09.001] [Cited by in Crossref: 6] [Cited by in F6Publishing: 4] [Article Influence: 1.5] [Reference Citation Analysis]
32 D'Amico A, Fattori F, Nicita F, Barresi S, Tasca G, Verardo M, Pizzi S, Moroni I, De Mitri F, Frongia A, Pane M, Mercuri E, Tartaglia M, Bertini E. A Recurrent Pathogenic Variant of INPP5K Underlies Autosomal Recessive Congenital Muscular Dystrophy With Cataracts and Intellectual Disability: Evidence for a Founder Effect in Southern Italy. Front Genet 2020;11:565868. [PMID: 33193651 DOI: 10.3389/fgene.2020.565868] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
33 Fasterius E, Uhlén M, Al-Khalili Szigyarto C. Single-cell RNA-seq variant analysis for exploration of genetic heterogeneity in cancer. Sci Rep 2019;9:9524. [PMID: 31267007 DOI: 10.1038/s41598-019-45934-1] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 3.3] [Reference Citation Analysis]
34 Dentici ML, Niceta M, Pantaleoni F, Barresi S, Bencivenga P, Dallapiccola B, Digilio MC, Tartaglia M. Expanding the phenotypic spectrum of truncating POGZ mutations: Association with CNS malformations, skeletal abnormalities, and distinctive facial dysmorphism. Am J Med Genet A 2017;173:1965-9. [PMID: 28480548 DOI: 10.1002/ajmg.a.38255] [Cited by in Crossref: 16] [Cited by in F6Publishing: 15] [Article Influence: 3.2] [Reference Citation Analysis]
35 Francis F, Cappello S. Neuronal migration and disorders - an update. Curr Opin Neurobiol 2021;66:57-68. [PMID: 33096394 DOI: 10.1016/j.conb.2020.10.002] [Cited by in Crossref: 4] [Cited by in F6Publishing: 4] [Article Influence: 2.0] [Reference Citation Analysis]
36 Narendiran S, Debnath M, Shivaram S, Kannan R, Sharma S, Christopher R, Seshagiri DV, Jain S, Purushottam M, Mangalore S, Bharath RD, Bindu PS, Sinha S, Taly AB, Nagappa M. Novel insights into the genetic profile of hereditary spastic paraplegia in India. Journal of Neurogenetics. [DOI: 10.1080/01677063.2022.2064463] [Reference Citation Analysis]
37 Flex E, Imperatore V, Carpentieri G, Bruselles A, Ciolfi A, Pizzi S, Tedesco MG, Rogaia D, Mencarelli A, Di Cara G, Verrotti A, Troiani S, Merla G, Tartaglia M, Prontera P. A Rare Case of Brachyolmia with Amelogenesis Imperfecta Caused by a New Pathogenic Splicing Variant in LTBP3. Genes (Basel) 2021;12:1406. [PMID: 34573388 DOI: 10.3390/genes12091406] [Reference Citation Analysis]
38 Tian D, Rizwan K, Liu Y, Kang L, Yang Y, Mao X, Shu L. Biallelic pathogenic variants in TBCD-related neurodevelopment disease with mild clinical features. Neurol Sci 2019;40:2325-31. [PMID: 31240573 DOI: 10.1007/s10072-019-03979-0] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 0.7] [Reference Citation Analysis]
39 Stephen J, Nampoothiri S, Vinayan KP, Yesodharan D, Remesh P, Gahl WA, Malicdan MCV. Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report. BMC Med Genet 2018;19:80. [PMID: 29769041 DOI: 10.1186/s12881-018-0597-6] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
40 Sabaie H, Ahangar NK, Ghafouri-Fard S, Taheri M, Rezazadeh M. Clinical and genetic features of PEHO and PEHO-Like syndromes: A scoping review. Biomed Pharmacother 2020;131:110793. [PMID: 33152950 DOI: 10.1016/j.biopha.2020.110793] [Reference Citation Analysis]
41 Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D. Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations. Orphanet J Rare Dis 2017;12:89. [PMID: 28494813 DOI: 10.1186/s13023-017-0641-1] [Cited by in Crossref: 24] [Cited by in F6Publishing: 23] [Article Influence: 4.8] [Reference Citation Analysis]
42 Radio FC, Ruzzeddu M, Bartuli A, Novelli A, Tartaglia M, Dallapiccola B. Cost-effectiveness of exome sequencing: an Italian pilot study on undiagnosed patients. New Genetics and Society 2019;38:249-63. [DOI: 10.1080/14636778.2019.1601008] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
43 Niceta M, Dentici ML, Ciolfi A, Marini R, Barresi S, Lepri FR, Novelli A, Bertini E, Cappa M, Digilio MC, Dallapiccola B, Tartaglia M. Co-occurrence of mutations in KIF7 and KIAA0556 in Joubert syndrome with ocular coloboma, pituitary malformation and growth hormone deficiency: a case report and literature review. BMC Pediatr 2020;20:120. [PMID: 32164589 DOI: 10.1186/s12887-020-2019-0] [Cited by in Crossref: 4] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
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