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Scopus Author ID: 56797842200
ResearcherID: K-4335-2016

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Education and qualifications (3)

Università di Roma Tor Vertgata: Roma, IT

2010-05 to 2015-07 | Specialization in Clinical Biochemistry
Education
Source: Self-asserted source
Lorenzo Ferri

Università degli Studi di Firenze: Firenze, IT

2009 | phD Genetics (Dipartimento di Biologia)
Education
Source: Self-asserted source
Lorenzo Ferri

Università degli Studi di Firenze: Firenze, IT

2005-04-20 | Biology (Dipartimento di Biologia)
Education
Source: Self-asserted source
Lorenzo Ferri

Works (28)

Impaired myoblast differentiation and muscle IGF‐1 receptor signaling pathway activation after N‐glycosylation inhibition

The FASEB Journal
2024-07-15 | Journal article
DOI: 10.1096/fj.202400213RR
Contributors: Giosuè Annibalini; Laura Di Patria; Giacomo Valli; Matteo Bocconcelli; Roberta Saltarelli; Lorenzo Ferri; Laura Barberi; Fabiana Fanelli; Amelia Morrone; Rita Barone et al.
Source: check_circle
Crossref

Defective IGF-1 prohormone N-glycosylation and reduced IGF-1 receptor signaling activation in congenital disorders of glycosylation

Cellular and Molecular Life Sciences
2022-03 | Journal article
DOI: 10.1007/s00018-022-04180-x
Contributors: Laura Di Patria; Giosuè Annibalini; Amelia Morrone; Lorenzo Ferri; Roberta Saltarelli; Luca Galluzzi; Aurora Diotallevi; Matteo Bocconcelli; Maria Alice Donati; Rita Barone et al.
Source: check_circle
Crossref

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.

Clinical epigenetics
2021-07-02 | Journal article
DOI: 10.1186/s13148-021-01117-2
PMID: 34215320
PMC: PMC8254308
Source: Self-asserted source
Lorenzo Ferri

Multicenter evaluation of use of dried blood spot compared to conventional plasma in measurements of globotriaosylsphingosine (LysoGb3) concentration in 104 Fabry patients.

Clinical chemistry and laboratory medicine
2021-04-29 | Journal article
DOI: 10.1515/cclm-2021-0316
PMID: 33915609
Source: Self-asserted source
Lorenzo Ferri

Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.

American journal of medical genetics. Part A
2021-01-04 | Journal article
DOI: 10.1002/ajmg.a.62061
PMID: 33394555
Source: Self-asserted source
Lorenzo Ferri

SARS-CoV-2 infection in a patient with propionic acidemia.

Orphanet journal of rare diseases
2020-10-28 | Journal article
DOI: 10.1186/s13023-020-01563-w
PMID: 33115512
PMC: PMC7592193
Source: Self-asserted source
Lorenzo Ferri

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

Clinica chimica acta; international journal of clinical chemistry
2018-02-21 | Journal article
DOI: 10.1016/j.cca.2018.02.021
PMID: 29476735
Source: Self-asserted source
Lorenzo Ferri

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

International journal of molecular sciences
2018-01-24 | Journal article
DOI: 10.3390/ijms19020345
PMID: 29364180
PMC: PMC5855567
Source: Self-asserted source
Lorenzo Ferri

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.

Molecular therapy. Nucleic acids
2016-10-25 | Journal article
DOI: 10.1038/mtna.2016.88
PMID: 27779620
PMC: PMC5095687
Source: Self-asserted source
Lorenzo Ferri

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy.

Developmental medicine and child neurology
2016-05-13 | Journal article
DOI: 10.1111/dmcn.13141
PMID: 27172925
Source: Self-asserted source
Lorenzo Ferri

The impact of fever/hyperthermia in the diagnosis of Fabry: A retrospective analysis.

2016-04 | Journal article
DOI: 10.1016/j.ejim.2016.03.015
PMID: 27083555
Contributors: Verrecchia E; Zampetti A; Antuzzi D; Ricci R; Ferri L; Morrone A; Feliciani C; Dagna L; Manna R
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central

When silence is noise: infantile-onset Barth syndrome caused by a synonymous substitution affecting TAZ gene transcription.

2016-02 | Journal article
DOI: 10.1111/cge.12756
PMID: 26853223
Contributors: Ferri L; Dionisi-Vici C; Taurisano R; Vaz FM; Guerrini R; Morrone A
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

2016-01 | Journal article
DOI: 10.1016/j.cca.2015.10.027
PMID: 26528637
Contributors: Ferri L; Cavicchi C; Fiumara A; Parini R; Guerrini R; Morrone A
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome.

2015-12 | Journal article
DOI: 10.1038/ejhg.2015.50
PMID: 25782672
Contributors: Ferri L; Donati MA; Funghini S; Cavicchi C; Pensato V; Gellera C; Natacci F; Spaccini L; Gasperini S; Vaz FM et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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De novo Diagnosis of Fabry Disease among Italian Adults with Acute Ischemic Stroke or Transient Ischemic Attack.

2015-11 | Journal article
DOI: 10.1016/j.jstrokecerebrovasdis.2015.07.012
PMID: 26298600
Contributors: Romani I; Borsini W; Nencini P; Morrone A; Ferri L; Frusconi S; Donadio VA; Liguori R; Donati MA; Falconi S et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Cell Cycle Control by the Master Regulator CtrA in Sinorhizobium meliloti.

2015-05 | Journal article
DOI: 10.1371/journal.pgen.1005232
PMID: 25978424
PMC: PMC4433202
Contributors: Pini F; De Nisco NJ; Ferri L; Penterman J; Fioravanti A; Brilli M; Mengoni A; Bazzicalupo M; Viollier PH; Walker GC et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations.

2015-03 | Journal article
DOI: 10.1002/humu.22751
PMID: 25545067
Contributors: Caciotti A; Tonin R; Rigoldi M; Ferri L; Catarzi S; Cavicchi C; Procopio E; Donati MA; Ficcadenti A; Fiumara A et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Aminoacylase I deficiency due to ACY1 mRNA exon skipping.

2014-10 | Journal article
DOI: 10.1111/cge.12297
PMID: 24117009
Contributors: Ferri L; Funghini S; Fioravanti A; Biondi EG; la Marca G; Guerrini R; Donati MA; Morrone A
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

2013 | Journal article
DOI: 10.1155/2013/625824
PMID: 24294134
PMC: PMC3833120
Contributors: Catarzi S; Caciotti A; Thusberg J; Tonin R; Malvagia S; la Marca G; Pasquini E; Cavicchi C; Ferri L; Donati MA et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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New clinical and molecular insights on Barth syndrome.

2013 | Journal article
DOI: 10.1186/1750-1172-8-27
PMID: 23409742
PMC: PMC3599367
Contributors: Ferri L; Donati MA; Funghini S; Malvagia S; Catarzi S; Lugli L; Ragni L; Bertini E; Vaz FM; Cooper DN et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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The DivJ, CbrA and PleC system controls DivK phosphorylation and symbiosis in Sinorhizobium meliloti.

2013-10 | Journal article
DOI: 10.1111/mmi.12347
PMID: 23909720
PMC: PMC3793127
Contributors: Pini F; Frage B; Ferri L; De Nisco NJ; Mohapatra SS; Taddei L; Fioravanti A; Dewitte F; Galardini M; Brilli M et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
Preferred source (of 2)‎

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

2012 | Journal article
DOI: 10.1007/8904_2012_125
PMID: 23430936
PMC: PMC3565637
Contributors: Ferri L; Caciotti A; Cavicchi C; Rigoldi M; Parini R; Caserta M; Chibbaro G; Gasperini S; Procopio E; Donati MA et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central

Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene.

2012-03 | Journal article
DOI: 10.1111/j.1399-0004.2011.01689.x
PMID: 21517827
Contributors: Ferri L; Guido C; la Marca G; Malvagia S; Cavicchi C; Fiumara A; Barone R; Parini R; Antuzzi D; Feliciani C et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.

2011-07 | Journal article
DOI: 10.1016/j.bbadis.2011.03.018
PMID: 21497194
PMC: PMC3210552
Contributors: Caciotti A; Garman SC; Rivera-Colón Y; Procopio E; Catarzi S; Ferri L; Guido C; Martelli P; Parini R; Antuzzi D et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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The diversity and evolution of cell cycle regulation in alpha-proteobacteria: a comparative genomic analysis.

2010 | Journal article
DOI: 10.1186/1752-0509-4-52
PMID: 20426835
PMC: PMC2877005
Contributors: Brilli M; Fondi M; Fani R; Mengoni A; Ferri L; Bazzicalupo M; Biondi EG
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Plasmid electroporation of Sinorhizobium strains: The role of the restriction gene hsdR in type strain Rm1021.

2010-05 | Journal article
DOI: 10.1016/j.plasmid.2010.01.001
PMID: 20097223
Contributors: Ferri L; Gori A; Biondi EG; Mengoni A; Bazzicalupo M
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Application of multiplex single nucleotide primer extension (mSNuPE) to the identification of bacteria: the Burkholderia cepacia complex case.

2010-03 | Journal article
DOI: 10.1016/j.mimet.2010.01.008
PMID: 20079386
Contributors: Ferri L; Perrin E; Campana S; Tabacchioni S; Taccetti G; Cocchi P; Ravenni N; Dalmastri C; Chiarini L; Bevivino A et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
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Use of the gyrB gene to discriminate among species of the Burkholderia cepacia complex.

2008-04 | Journal article
DOI: 10.1111/j.1574-6968.2008.01105.x
PMID: 18312571
Contributors: Tabacchioni S; Ferri L; Manno G; Mentasti M; Cocchi P; Campana S; Ravenni N; Taccetti G; Dalmastri C; Chiarini L et al.
Source: Self-asserted source
Lorenzo Ferri via Europe PubMed Central
grade
Preferred source (of 2)‎
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