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Items: 1 to 50 of 143

1.

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.

2.

DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass.

Favaro G, Romanello V, Varanita T, Andrea Desbats M, Morbidoni V, Tezze C, Albiero M, Canato M, Gherardi G, De Stefani D, Mammucari C, Blaauw B, Boncompagni S, Protasi F, Reggiani C, Scorrano L, Salviati L, Sandri M.

Nat Commun. 2019 Jun 12;10(1):2576. doi: 10.1038/s41467-019-10226-9.

3.

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.

4.

FSHD1 and FSHD2 form a disease continuum.

Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM.

Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12.

PMID:
30979860
5.

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.

6.

Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.

Motta M, Fidan M, Bellacchio E, Pantaleoni F, Schneider-Heieck K, Coppola S, Borck G, Salviati L, Zenker M, Cirstea IC, Tartaglia M.

Hum Mol Genet. 2019 Mar 15;28(6):1007-1022. doi: 10.1093/hmg/ddy412.

PMID:
30481304
7.

A new Italian family with HTRA1 mutation associated with autosomal-dominant variant of CARASIL: Are we pointing towards a disease spectrum?

Favaretto S, Margoni M, Salviati L, Pianese L, Manara R, Baracchini C.

J Neurol Sci. 2019 Jan 15;396:108-111. doi: 10.1016/j.jns.2018.11.008. Epub 2018 Nov 10. No abstract available.

PMID:
30447605
8.

Sarcopenia: Aging-Related Loss of Muscle Mass and Function.

Larsson L, Degens H, Li M, Salviati L, Lee YI, Thompson W, Kirkland JL, Sandri M.

Physiol Rev. 2019 Jan 1;99(1):427-511. doi: 10.1152/physrev.00061.2017. Review.

PMID:
30427277
9.

Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.

Montioli R, Desbats MA, Grottelli S, Doimo M, Bellezza I, Borri Voltattorni C, Salviati L, Cellini B.

Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3629-3638. doi: 10.1016/j.bbadis.2018.08.032. Epub 2018 Aug 26.

PMID:
30251682
10.

Drug Repurposing for Duchenne Muscular Dystrophy: The Monoamine Oxidase B Inhibitor Safinamide Ameliorates the Pathological Phenotype in mdx Mice and in Myogenic Cultures From DMD Patients.

Vitiello L, Marabita M, Sorato E, Nogara L, Forestan G, Mouly V, Salviati L, Acosta M, Blaauw B, Canton M.

Front Physiol. 2018 Aug 14;9:1087. doi: 10.3389/fphys.2018.01087. eCollection 2018.

11.

Transcriptional programming of lipid and amino acid metabolism by the skeletal muscle circadian clock.

Dyar KA, Hubert MJ, Mir AA, Ciciliot S, Lutter D, Greulich F, Quagliarini F, Kleinert M, Fischer K, Eichmann TO, Wright LE, Peña Paz MI, Casarin A, Pertegato V, Romanello V, Albiero M, Mazzucco S, Rizzuto R, Salviati L, Biolo G, Blaauw B, Schiaffino S, Uhlenhaut NH.

PLoS Biol. 2018 Aug 10;16(8):e2005886. doi: 10.1371/journal.pbio.2005886. eCollection 2018 Aug. Erratum in: PLoS Biol. 2018 Sep 26;16(9):e3000035.

12.

Molecular diagnosis of coenzyme Q10 deficiency: an update.

Yubero D, Montero R, Santos-Ocaña C, Salviati L, Navas P, Artuch R.

Expert Rev Mol Diagn. 2018 Jun;18(6):491-498. doi: 10.1080/14737159.2018.1478290. Epub 2018 May 30. Review.

PMID:
29781757
13.

The idebenone metabolite QS10 restores electron transfer in complex I and coenzyme Q defects.

Giorgio V, Schiavone M, Galber C, Carini M, Da Ros T, Petronilli V, Argenton F, Carelli V, Acosta Lopez MJ, Salviati L, Prato M, Bernardi P.

Biochim Biophys Acta Bioenerg. 2018 Sep;1859(9):901-908. doi: 10.1016/j.bbabio.2018.04.006. Epub 2018 Apr 22.

PMID:
29694828
14.

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.

15.

Prenatal detection of trisomy 8 mosaicism: Pregnancy outcome and follow up of a series of 17 consecutive cases.

Cassina M, Calò A, Salviati L, Alghisi A, Montaldi A, Clementi M.

Eur J Obstet Gynecol Reprod Biol. 2018 Feb;221:23-27. doi: 10.1016/j.ejogrb.2017.12.012. Epub 2017 Dec 7.

PMID:
29232625
16.

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.

17.

In mammalian skeletal muscle, phosphorylation of TOMM22 by protein kinase CSNK2/CK2 controls mitophagy.

Kravic B, Harbauer AB, Romanello V, Simeone L, Vögtle FN, Kaiser T, Straubinger M, Huraskin D, Böttcher M, Cerqua C, Martin ED, Poveda-Huertes D, Buttgereit A, Rabalski AJ, Heuss D, Rudolf R, Friedrich O, Litchfield D, Marber M, Salviati L, Mougiakakos D, Neuhuber W, Sandri M, Meisinger C, Hashemolhosseini S.

Autophagy. 2018;14(2):311-335. doi: 10.1080/15548627.2017.1403716. Epub 2018 Feb 1.

18.

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB, Polo G, Salviati L, Duro G, Zizzo C, Dardis A, Bembi B, Cazzorla C, Rubert L, Zordan R, Desnick RJ, Burlina AP.

J Inherit Metab Dis. 2018 Mar;41(2):209-219. doi: 10.1007/s10545-017-0098-3. Epub 2017 Nov 15.

PMID:
29143201
19.

Mitochondrial cytopathies and the kidney.

Emma F, Salviati L.

Nephrol Ther. 2017 Apr;13 Suppl 1:S23-S28. doi: 10.1016/j.nephro.2017.01.014. Review.

PMID:
28577739
20.

Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.

Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, Ciciliot S, Soriano ME, Morbidoni V, Cerqua C, Loefler S, Kern H, Franceschi C, Salvioli S, Conte M, Blaauw B, Zampieri S, Salviati L, Scorrano L, Sandri M.

Cell Metab. 2017 Jun 6;25(6):1374-1389.e6. doi: 10.1016/j.cmet.2017.04.021. Epub 2017 May 25.

21.

Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.

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.

Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1.

22.

MCM5: a new actor in the link between DNA replication and Meier-Gorlin syndrome.

Vetro A, Savasta S, Russo Raucci A, Cerqua C, Sartori G, Limongelli I, Forlino A, Maruelli S, Perucca P, Vergani D, Mazzini G, Mattevi A, Stivala LA, Salviati L, Zuffardi O.

Eur J Hum Genet. 2017 May;25(5):646-650. doi: 10.1038/ejhg.2017.5. Epub 2017 Feb 15.

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.

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.

Borgia D, Malena A, Spinazzi M, Desbats MA, Salviati L, Russell AP, Miotto G, Tosatto L, Pegoraro E, Sorarù G, Pennuto M, Vergani L.

Hum Mol Genet. 2017 Mar 15;26(6):1087-1103. doi: 10.1093/hmg/ddx019.

25.

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
26.

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.

27.

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Lucia Valentino M, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2017 Jan;18(1):69. doi: 10.1007/s10048-016-0501-5. No abstract available.

PMID:
27913898
28.

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
29.

The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction.

Salah H, Li M, Cacciani N, Gastaldello S, Ogilvie H, Akkad H, Namuduri AV, Morbidoni V, Artemenko KA, Balogh G, Martinez-Redondo V, Jannig P, Hedström Y, Dworkin B, Bergquist J, Ruas J, Vigh L, Salviati L, Larsson L.

Sci Transl Med. 2016 Aug 3;8(350):350ra103. doi: 10.1126/scitranslmed.aaf7099.

PMID:
27488897
30.

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
31.

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.

32.

Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Valentino ML, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2016 Apr;17(2):143. doi: 10.1007/s10048-016-0475-3. No abstract available.

PMID:
26924555
33.

Mitochondrial dysfunction in inherited renal disease and acute kidney injury.

Emma F, Montini G, Parikh SM, Salviati L.

Nat Rev Nephrol. 2016 May;12(5):267-80. doi: 10.1038/nrneph.2015.214. Epub 2016 Jan 25. Review.

34.

Exome sequencing analysis in a pair of monozygotic twins re-evaluates the genetics behind their intellectual disability and reveals a CHD2 mutation.

Pinto AM, Bianciardi L, Mencarelli MA, Imperatore V, Di Marco C, Furini S, Suppiej A, Salviati L, Tenconi R, Ariani F, Mari F, Renieri A.

Brain Dev. 2016 Jun;38(6):590-6. doi: 10.1016/j.braindev.2015.12.006. Epub 2016 Jan 2.

PMID:
26754451
35.

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.

36.

Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.

Cao M, Donà M, Valentino ML, Valentino L, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E.

Neurogenetics. 2016 Jan;17(1):65-70. doi: 10.1007/s10048-015-0465-x. Epub 2015 Nov 10. Erratum in: Neurogenetics. 2016 Apr;17(2):143. Valentino, Lucia [Corrected to Valentino, M. Lucia]. Neurogenetics. 2017 Jan;18(1):69. Carozzo, Rosalba [Corrected to Carrozzo, Rosalba].

PMID:
26556812
37.

ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.

Panza E, Escamilla-Honrubia JM, Marco-Marín C, Gougeard N, De Michele G, Morra VB, Liguori R, Salviati L, Donati MA, Cusano R, Pippucci T, Ravazzolo R, Németh AH, Smithson S, Davies S, Hurst JA, Bordo D, Rubio V, Seri M.

Brain. 2016 Jan;139(Pt 1):e3. doi: 10.1093/brain/awv247. Epub 2015 Aug 21. No abstract available.

PMID:
26297558
38.

Molecular diagnosis of coenzyme Q10 deficiency.

Yubero D, Montero R, Armstrong J, Espinós C, Palau F, Santos-Ocaña C, Salviati L, Navas P, Artuch R.

Expert Rev Mol Diagn. 2015;15(8):1049-59. doi: 10.1586/14737159.2015.1062727. Epub 2015 Jul 4. Review.

PMID:
26144946
39.

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.

Asencio C, Rodríguez-Hernandez MA, Briones P, Montoya J, Cortés A, Emperador S, Gavilán A, Ruiz-Pesini E, Yubero D, Montero R, Pineda M, O'Callaghan MM, Alcázar-Fabra M, Salviati L, Artuch R, Navas P.

Eur J Hum Genet. 2016 Mar;24(3):367-72. doi: 10.1038/ejhg.2015.112. Epub 2015 May 27.

40.

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies.

Southgate L, Sukalo M, Karountzos ASV, Taylor EJ, Collinson CS, Ruddy D, Snape KM, Dallapiccola B, Tolmie JL, Joss S, Brancati F, Digilio MC, Graul-Neumann LM, Salviati L, Coerdt W, Jacquemin E, Wuyts W, Zenker M, Machado RD, Trembath RC.

Circ Cardiovasc Genet. 2015 Aug;8(4):572-581. doi: 10.1161/CIRCGENETICS.115.001086. Epub 2015 May 11.

41.

FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.

Cassina M, Rigon C, Casarin A, Vicenzi V, Salviati L, Clementi M.

Am J Med Genet A. 2015 Jun;167(6):1418-20. doi: 10.1002/ajmg.a.37033. Epub 2015 Apr 21. No abstract available.

PMID:
25900767
42.

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
43.

Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.

Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C.

Hum Genet. 2015 Jun;134(6):613-26. doi: 10.1007/s00439-015-1542-9. Epub 2015 Mar 25.

PMID:
25805166
44.

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
45.

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
46.

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.

47.

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.

48.

Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.

Kuechler A, Zink AM, Wieland T, Lüdecke HJ, Cremer K, Salviati L, Magini P, Najafi K, Zweier C, Czeschik JC, Aretz S, Endele S, Tamburrino F, Pinato C, Clementi M, Gundlach J, Maylahn C, Mazzanti L, Wohlleber E, Schwarzmayr T, Kariminejad R, Schlessinger A, Wieczorek D, Strom TM, Novarino G, Engels H.

Eur J Hum Genet. 2015 Jun;23(6):753-60. doi: 10.1038/ejhg.2014.165. Epub 2014 Aug 20.

49.

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.

50.

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

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