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Items: 1 to 50 of 70

1.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276 and p.Lys1423: genotype-phenotype study in neurofibromatosis type 1.

Koczkowska M, Callens T, Chen Y, Gomes A, Hicks AD, Sharp A, Johns E, Uhas KA, Armstrong L, Bosanko KA, Babovic-Vuksanovic D, Baker L, Basel DG, Bengala M, Bennett JT, Chambers C, Clarkson LK, Clementi M, Cortés FM, Cunningham M, D'Agostino MD, Delatycki MB, Digilio MC, Dosa L, Esposito S, Fox S, Freckmann ML, Fauth C, Giugliano T, Giustini S, Goetsch A, Goldberg Y, Greenwood RS, Griffis C, Gripp KW, Gupta P, Haan E, Hachen RK, Haygarth TL, Hernández-Chico C, Hodge K, Hopkin RJ, Hudgins L, Janssens S, Keller K, Kelly-Mancuso G, Kochhar A, Korf BR, Lewis AM, Liebelt J, Lichty A, Listernick RH, Lyons MJ, Maystadt I, Ojeda MM, McDougall C, McGregor LK, Melis D, Mendelsohn N, Nowaczyk MJM, Ortenberg J, Panzer K, Pappas JG, Pierpont ME, Piluso G, Pinna V, Pivnick EK, Pond DA, Powell CM, Rogers C, Shahar NR, Rutledge SL, Saletti V, Sandaradura SA, Santoro C, Schatz UA, Schreiber A, Scott DA, Sellars EA, Sheffer R, Siqveland E, Slopis JM, Smith R, Spalice A, Stockton DW, Streff H, Theos A, Tomlinson GE, Tran G, Trapane PL, Trevisson E, Ullrich NJ, Van den Ende J, Schrier Vergano SA, Wallace SE, Wangler MF, Weaver DD, Yohay KH, Zackai E, Zonana J, Zurcher V, Claes KBM, Eoli M, Martin Y, Wimmer K, De Luca A, Legius E, Messiaen LM.

Hum Mutat. 2019 Oct 8. doi: 10.1002/humu.23929. [Epub ahead of print]

PMID:
31595648
2.

Correction: Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.

Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A, Harkness EF, Wolkenstein P, Peltonen J.

Genet Med. 2019 Oct 8. doi: 10.1038/s41436-019-0671-2. [Epub ahead of print]

PMID:
31591510
3.

Photosensitive epilepsy and long QT: expanding Timothy syndrome phenotype.

Po' C, Zordan R, Vecchi M, Cerutti A, Sartori S, Trevisson E, Ludwig K, Castaldi B, Salviati L, Leoni L, Toldo I.

Clin Neurophysiol. 2019 Sep 17;130(11):2134-2136. doi: 10.1016/j.clinph.2019.09.003. [Epub ahead of print] No abstract available.

PMID:
31563812
4.

Breast cancer in neurofibromatosis 1: survival and risk of contralateral breast cancer in a five country cohort study.

Evans DGR, Kallionpää RA, Clementi M, Trevisson E, Mautner VF, Howell SJ, Lewis L, Zehou O, Peltonen S, Brunello A, Harkness EF, Wolkenstein P, Peltonen J.

Genet Med. 2019 Sep 9. doi: 10.1038/s41436-019-0651-6. [Epub ahead of print] Erratum in: Genet Med. 2019 Oct 8;:.

PMID:
31495828
5.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2019 Sep 5;105(3):669. doi: 10.1016/j.ajhg.2019.08.007. No abstract available.

6.

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.

Acosta Lopez MJ, Trevisson E, Canton M, Vazquez-Fonseca L, Morbidoni V, Baschiera E, Frasson C, Pelosi L, Rascalou B, Desbats MA, Alcázar-Fabra M, Ríos JJ, Sánchez-García A, Basso G, Navas P, Pierrel F, Brea-Calvo G, Salviati L.

Oxid Med Cell Longev. 2019 Jul 10;2019:3904905. doi: 10.1155/2019/3904905. eCollection 2019.

7.

Dysfunctional coping is related to impaired skin-related quality of life and psychological distress in patients with neurofibromatosis type 1 with major skin involvement.

Bottesi G, Spoto A, Trevisson E, Zuccarello D, Vidotto G, Cassina M, Clementi M.

Br J Dermatol. 2019 Jul 22. doi: 10.1111/bjd.18363. [Epub ahead of print]

PMID:
31329288
8.

Retinal Vascular and Neural Remodeling Secondary to Optic Nerve Axonal Degeneration: A Study Using OCT Angiography.

Parrozzani R, Leonardi F, Frizziero L, Trevisson E, Clementi M, Pilotto E, Fusetti S, Miglionico G, Midena E.

Ophthalmol Retina. 2018 Aug;2(8):827-835. doi: 10.1016/j.oret.2017.12.001. Epub 2018 Jan 6.

PMID:
31047537
9.

Vitamin K2 cannot substitute Coenzyme Q10 as electron carrier in the mitochondrial respiratory chain of mammalian cells.

Cerqua C, Casarin A, Pierrel F, Vazquez Fonseca L, Viola G, Salviati L, Trevisson E.

Sci Rep. 2019 Apr 25;9(1):6553. doi: 10.1038/s41598-019-43014-y.

10.

The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.

Trevisson E, Morbidoni V, Forzan M, Daolio C, Fumini V, Parrozzani R, Cassina M, Midena E, Salviati L, Clementi M.

Mol Genet Genomic Med. 2019 May;7(5):e616. doi: 10.1002/mgg3.616. Epub 2019 Mar 6.

11.

Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.

Gelli E, Colombo M, Pinto AM, De Vecchi G, Foglia C, Amitrano S, Morbidoni V, Imperatore V, Manoukian S, Baldassarri M, Lo Rizzo C, Catania L, Frullanti E, Tagliafico E, Cortesi L, Spaggiari F, Mencarelli MA, Trevisson E, Radice P, Renieri A, Ariani F.

Cancers (Basel). 2019 Mar 1;11(3). pii: E295. doi: 10.3390/cancers11030295.

12.

Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma.

Parrozzani R, Miglionico G, Leonardi F, Pulze S, Trevisson E, Clementi M, Opocher E, Licata V, Viscardi E, Pilotto E, Frizziero L, Midena E.

Acta Ophthalmol. 2018 Dec;96(8):e1004-e1009. doi: 10.1111/aos.13803. Epub 2018 Oct 3.

PMID:
30284379
13.

Clinical syndromes associated with Coenzyme Q10 deficiency.

Alcázar-Fabra M, Trevisson E, Brea-Calvo G.

Essays Biochem. 2018 Jul 20;62(3):377-398. doi: 10.1042/EBC20170107. Print 2018 Jul 20. Review.

PMID:
30030365
14.

Recessive Spondylocarpotarsal Synostosis Syndrome Due to Compound Heterozygosity for Variants in MYH3.

Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP.

Am J Hum Genet. 2018 Jun 7;102(6):1115-1125. doi: 10.1016/j.ajhg.2018.04.008. Epub 2018 May 24. Erratum in: Am J Hum Genet. 2019 Sep 5;105(3):669.

15.

Parent-of-origin effect of hypomorphic pathogenic variants and somatic mosaicism impact on phenotypic expression of retinoblastoma.

Imperatore V, Pinto AM, Gelli E, Trevisson E, Morbidoni V, Frullanti E, Hadjistilianou T, De Francesco S, Toti P, Gusson E, Roversi G, Accogli A, Capra V, Mencarelli MA, Renieri A, Ariani F.

Eur J Hum Genet. 2018 Jul;26(7):1026-1037. doi: 10.1038/s41431-017-0054-6. Epub 2018 Apr 17.

16.

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Cerqua C, Morbidoni V, Desbats MA, Doimo M, Frasson C, Sacconi S, Baldoin MC, Sartori G, Basso G, Salviati L, Trevisson E.

Biochim Biophys Acta Bioenerg. 2018 Apr;1859(4):244-252. doi: 10.1016/j.bbabio.2018.01.004. Epub 2018 Feb 3.

17.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Koczkowska M, Chen Y, Callens T, Gomes A, Sharp A, Johnson S, Hsiao MC, Chen Z, Balasubramanian M, Barnett CP, Becker TA, Ben-Shachar S, Bertola DR, Blakeley JO, Burkitt-Wright EMM, Callaway A, Crenshaw M, Cunha KS, Cunningham M, D'Agostino MD, Dahan K, De Luca A, Destrée A, Dhamija R, Eoli M, Evans DGR, Galvin-Parton P, George-Abraham JK, Gripp KW, Guevara-Campos J, Hanchard NA, Hernández-Chico C, Immken L, Janssens S, Jones KJ, Keena BA, Kochhar A, Liebelt J, Martir-Negron A, Mahoney MJ, Maystadt I, McDougall C, McEntagart M, Mendelsohn N, Miller DT, Mortier G, Morton J, Pappas J, Plotkin SR, Pond D, Rosenbaum K, Rubin K, Russell L, Rutledge LS, Saletti V, Schonberg R, Schreiber A, Seidel M, Siqveland E, Stockton DW, Trevisson E, Ullrich NJ, Upadhyaya M, van Minkelen R, Verhelst H, Wallace MR, Yap YS, Zackai E, Zonana J, Zurcher V, Claes K, Martin Y, Korf BR, Legius E, Messiaen LM.

Am J Hum Genet. 2018 Jan 4;102(1):69-87. doi: 10.1016/j.ajhg.2017.12.001. Epub 2017 Dec 28.

18.

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Vazquez Fonseca L, Doimo M, Calderan C, Desbats MA, Acosta MJ, Cerqua C, Cassina M, Ashraf S, Hildebrandt F, Sartori G, Navas P, Trevisson E, Salviati L.

Hum Mutat. 2018 Mar;39(3):406-414. doi: 10.1002/humu.23376. Epub 2017 Dec 18.

19.

Osteopathia striata with cranial sclerosis and Wilms tumor: Coincidence or consequence?

Sperotto F, Bisogno G, Opocher E, Rossi S, Rigon C, Trevisson E, Mercolini F.

Clin Genet. 2017 Dec;92(6):674-675. doi: 10.1111/cge.13082. No abstract available.

PMID:
29120061
20.

Numerical activities of daily living in adults with neurofibromatosis type 1.

Burgio F, Benavides-Varela S, Arcara G, Trevisson E, Frizziero D, Clementi M, Semenza C.

J Intellect Disabil Res. 2017 Nov;61(11):1069-1077. doi: 10.1111/jir.12408. Epub 2017 Aug 29.

PMID:
28853219
21.

Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.

Trevisson E, Cassina M, Opocher E, Vicenzi V, Lucchetta M, Parrozzani R, Miglionico G, Mardari R, Viscardi E, Midena E, Clementi M.

J Neurooncol. 2017 Sep;134(2):279-287. doi: 10.1007/s11060-017-2517-6. Epub 2017 Jun 2.

PMID:
28577031
22.

RETINAL VASCULAR ABNORMALITIES IN A LARGE COHORT OF PATIENTS AFFECTED BY NEUROFIBROMATOSIS TYPE 1: A Study Using Optical Coherence Tomography Angiography.

Parrozzani R, Pilotto E, Clementi M, Frizziero L, Leonardi F, Convento E, Miglionico G, Pulze S, Perrini P, Trevisson E, Cassina M, Midena E.

Retina. 2018 Mar;38(3):585-593. doi: 10.1097/IAE.0000000000001578.

PMID:
28248826
23.

Primary Coenzyme Q10 Deficiency.

Salviati L, Trevisson E, Doimo M, Navas P.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Jan 26.

24.

Further phenotypic heterogeneity of CoQ10 deficiency associated with steroid resistant nephrotic syndrome and novel COQ2 and COQ6 variants.

Gigante M, Diella S, Santangelo L, Trevisson E, Acosta MJ, Amatruda M, Finzi G, Caridi G, Murer L, Accetturo M, Ranieri E, Ghiggeri GM, Giordano M, Grandaliano G, Salviati L, Gesualdo L.

Clin Genet. 2017 Aug;92(2):224-226. doi: 10.1111/cge.12960. Epub 2017 Mar 22. No abstract available.

PMID:
28044327
25.

A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome.

Cassina M, Cerqua C, Rossi S, Salviati L, Martini A, Clementi M, Trevisson E.

Eur J Hum Genet. 2017 Feb;25(3):371-375. doi: 10.1038/ejhg.2016.176. Epub 2016 Dec 14.

26.

Alport syndrome: impact of digenic inheritance in patients management.

Fallerini C, Baldassarri M, Trevisson E, Morbidoni V, La Manna A, Lazzarin R, Pasini A, Barbano G, Pinciaroli AR, Garosi G, Frullanti E, Pinto AM, Mencarelli MA, Mari F, Renieri A, Ariani F.

Clin Genet. 2017 Jul;92(1):34-44. doi: 10.1111/cge.12919. Epub 2017 Feb 22.

PMID:
27859054
27.

The COQ2 genotype predicts the severity of coenzyme Q10 deficiency.

Desbats MA, Morbidoni V, Silic-Benussi M, Doimo M, Ciminale V, Cassina M, Sacconi S, Hirano M, Basso G, Pierrel F, Navas P, Salviati L, Trevisson E.

Hum Mol Genet. 2016 Oct 1;25(19):4256-4265. doi: 10.1093/hmg/ddw257. Epub 2016 Aug 4.

PMID:
27493029
28.

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D, Montero R, Martín MA, Montoya J, Ribes A, Grazina M, Trevisson E, Rodriguez-Aguilera JC, Hargreaves IP, Salviati L, Navas P, Artuch R; CoQ deficiency study group, Jou C, Jimenez-Mallebrera C, Nascimento A, Pérez-Dueñas B, Ortez C, Ramos F, Colomer J, O'Callaghan M, Pineda M, García-Cazorla A, Espinós C, Ruiz A, Macaya A, Marcé-Grau A, Garcia-Villoria J, Arias A, Emperador S, Ruiz-Pesini E, Lopez-Gallardo E, Neergheen V, Simões M, Diogo L, Blázquez A, González-Quintana A, Delmiro A, Domínguez-González C, Arenas J, García-Silva MT, Martín E, Quijada P, Hernández-Laín A, Morán M, Rivas Infante E, Ávila Polo R, Paradas Lópe C, Bautista Lorite J, Martínez Fernández EM, Cortés AB, Sánchez-Cuesta A, Cascajo MV, Alcázar M, Brea-Calvo G.

Mitochondrion. 2016 Sep;30:51-8. doi: 10.1016/j.mito.2016.06.007. Epub 2016 Jun 30.

PMID:
27374853
29.

Coenzyme Q biosynthesis in health and disease.

Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L.

Biochim Biophys Acta. 2016 Aug;1857(8):1079-1085. doi: 10.1016/j.bbabio.2016.03.036. Epub 2016 Apr 7. Review.

30.

Heterologous Expression in Yeast of Human Ornithine Carriers ORNT1 and ORNT2 and of ORNT1 Alleles Implicated in HHH Syndrome in Humans.

Doimo M, Lopreiato R, Basso V, Bortolotto R, Tessa A, Santorelli FM, Trevisson E, Salviati L.

JIMD Rep. 2016;28:119-126. Epub 2015 Nov 21.

31.

Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1.

Lucchetta M, Manara R, Perilongo G, Clementi M, Trevisson E.

Radiol Med. 2016 Mar;121(3):214-7. doi: 10.1007/s11547-015-0587-0. Epub 2015 Oct 7.

PMID:
26445946
32.

In Vivo Detection of Choroidal Abnormalities Related to NF1: Feasibility and Comparison With Standard NIH Diagnostic Criteria in Pediatric Patients.

Parrozzani R, Clementi M, Frizziero L, Miglionico G, Perrini P, Cavarzeran F, Kotsafti O, Comacchio F, Trevisson E, Convento E, Fusetti S, Midena E.

Invest Ophthalmol Vis Sci. 2015 Sep;56(10):6036-42. doi: 10.1167/iovs.14-16053.

PMID:
26393470
33.

Is there a link between COQ6 and schwannomatosis?

Trevisson E, Clementi M, Salviati L.

Genet Med. 2015 Apr;17(4):312-3. doi: 10.1038/gim.2014.211. No abstract available.

PMID:
25835193
34.

Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.

Giorgi G, Casarin A, Trevisson E, Donà M, Cassina M, Graziano C, Picci L, Clementi M, Salviati L.

Clin Chem Lab Med. 2015 Oct;53(11):1719-23. doi: 10.1515/cclm-2014-1047.

PMID:
25781545
35.

Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome.

Trevisson E, Ludwig K, Casarin A, Di Meglio A, Greggio NA, Manara R, Lenzini E, Clementi M, Salviati L.

J Dermatol Sci. 2015 May;78(2):158-60. doi: 10.1016/j.jdermsci.2015.02.005. Epub 2015 Feb 16. No abstract available.

PMID:
25726327
36.

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.

Desbats MA, Vetro A, Limongelli I, Lunardi G, Casarin A, Doimo M, Spinazzi M, Angelini C, Cenacchi G, Burlina A, Rodriguez Hernandez MA, Chiandetti L, Clementi M, Trevisson E, Navas P, Zuffardi O, Salviati L.

Eur J Hum Genet. 2015 Sep;23(9):1254-8. doi: 10.1038/ejhg.2014.277. Epub 2015 Jan 7.

37.

p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.

Pinna V, Lanari V, Daniele P, Consoli F, Agolini E, Margiotti K, Bottillo I, Torrente I, Bruselles A, Fusilli C, Ficcadenti A, Bargiacchi S, Trevisson E, Forzan M, Giustini S, Leoni C, Zampino G, Digilio MC, Dallapiccola B, Clementi M, Tartaglia M, De Luca A.

Eur J Hum Genet. 2015 Aug;23(8):1068-71. doi: 10.1038/ejhg.2014.243. Epub 2014 Nov 5.

38.

Expanding the mutational spectrum of LZTR1 in schwannomatosis.

Paganini I, Chang VY, Capone GL, Vitte J, Benelli M, Barbetti L, Sestini R, Trevisson E, Hulsebos TJ, Giovannini M, Nelson SF, Papi L.

Eur J Hum Genet. 2015 Jul;23(7):963-8. doi: 10.1038/ejhg.2014.220. Epub 2014 Oct 22.

39.

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis.

Nguyen TP, Casarin A, Desbats MA, Doimo M, Trevisson E, Santos-Ocaña C, Navas P, Clarke CF, Salviati L.

Biochim Biophys Acta. 2014 Nov;1841(11):1628-38. doi: 10.1016/j.bbalip.2014.08.007. Epub 2014 Aug 23.

40.

Genetics of coenzyme q10 deficiency.

Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L.

Mol Syndromol. 2014 Jul;5(3-4):156-62. doi: 10.1159/000362826.

41.

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ 10) deficiency.

Desbats MA, Lunardi G, Doimo M, Trevisson E, Salviati L.

J Inherit Metab Dis. 2015 Jan;38(1):145-56. doi: 10.1007/s10545-014-9749-9. Epub 2014 Aug 5. Review.

PMID:
25091424
42.

Optical coherence tomography in the diagnosis of optic pathway gliomas.

Parrozzani R, Clementi M, Kotsafti O, Miglionico G, Trevisson E, Orlando G, Pilotto E, Midena E.

Invest Ophthalmol Vis Sci. 2013 Dec 17;54(13):8112-8. doi: 10.1167/iovs.13-13093.

PMID:
24169000
43.

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency.

Doimo M, Trevisson E, Airik R, Bergdoll M, Santos-Ocaña C, Hildebrandt F, Navas P, Pierrel F, Salviati L.

Biochim Biophys Acta. 2014 Jan;1842(1):1-6. doi: 10.1016/j.bbadis.2013.10.007. Epub 2013 Oct 18.

44.

Neurofibromatosis type 1 in two siblings due to maternal germline mosaicism.

Trevisson E, Forzan M, Salviati L, Clementi M.

Clin Genet. 2014 Apr;85(4):386-9. doi: 10.1111/cge.12177. Epub 2013 May 27.

PMID:
23621909
45.

De novo trisomy 20p characterized by array comparative genomic hybridization: report of a novel case and review of the literature.

Bartolini L, Sartori S, Lenzini E, Rigon C, Cainelli E, Agrati C, Toldo I, Donà M, Trevisson E.

Gene. 2013 Jul 25;524(2):368-72. doi: 10.1016/j.gene.2013.04.033. Epub 2013 Apr 21. Review.

PMID:
23612255
46.

Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.

Doimo M, Desbats MA, Baldoin MC, Lenzini E, Basso G, Murphy E, Graziano C, Seri M, Burlina A, Sartori G, Trevisson E, Salviati L.

Hum Mutat. 2013 Jan;34(1):229-36. doi: 10.1002/humu.22233. Epub 2012 Oct 17.

PMID:
23076989
47.

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.

Casarin A, Giorgi G, Pertegato V, Siviero R, Cerqua C, Doimo M, Basso G, Sacconi S, Cassina M, Rizzuto R, Brosel S, M Davidson M, Dimauro S, Schon EA, Clementi M, Trevisson E, Salviati L.

Orphanet J Rare Dis. 2012 Apr 19;7:21.

48.

Haploinsufficiency of COQ4 causes coenzyme Q10 deficiency.

Salviati L, Trevisson E, Rodriguez Hernandez MA, Casarin A, Pertegato V, Doimo M, Cassina M, Agosto C, Desbats MA, Sartori G, Sacconi S, Memo L, Zuffardi O, Artuch R, Quinzii C, Dimauro S, Hirano M, Santos-Ocaña C, Navas P.

J Med Genet. 2012 Mar;49(3):187-91. doi: 10.1136/jmedgenet-2011-100394.

49.

Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.

Doimo M, Trevisson E, Sartori G, Burlina A, Salviati L.

J Inherit Metab Dis. 2012 May;35(3):557-8. doi: 10.1007/s10545-011-9402-9. Epub 2012 Jan 10. No abstract available.

PMID:
22231378
50.

Coenzyme Q deficiency in muscle.

Trevisson E, DiMauro S, Navas P, Salviati L.

Curr Opin Neurol. 2011 Oct;24(5):449-56. doi: 10.1097/WCO.0b013e32834ab528. Review.

PMID:
21844807

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