PEVERELLI, LORENZO

PEVERELLI, LORENZO  

Universita' degli Studi di MILANO  

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Titolo Data di pubblicazione Autori Tipo File Abstract
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia 2023 Lamantea E.Peverelli L.Magri F.Comi G. P.Ronchi D.Ghezzi D.Lamperti C. + Article (author) -
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants 2021 Peverelli L.Lamantea E.Ghezzi D.Lamperti C. + Article (author) -
Severe inflammatory myopathy in a pulmonary carcinoma patient treated with Pembrolizumab: An alert for myologists 2020 Peverelli L.Comi G. P. + Article (author) -
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis 2020 Magri F.Brusa R.Bello L.Peverelli L.Govoni A.Cinnante C.Colombo I.Fortunato F.Corti S.Bresolin N.Comi G. P. + Article (author) -
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy 2020 Del Bo R.Comi G. P.Peverelli L. + Article (author) -
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form 2020 Pagliarani S.Lerario A.Conte G.Cinnante C.Comi G. P.Peverelli L. + Article (author) -
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment 2019 Peverelli, LorenzoNANETTI, LORENZOLamperti, CostanzaGhezzi, Daniele + Article (author) -
DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E) 2019 Peverelli, LorenzoTabano, SilviaGhezzi, DanieleLamperti, Costanza + Article (author) -
New missense variants of NDUFA11 associated with late-onset myopathy 2019 Peverelli L.Lerario A.Galimberti V.Ghezzi D.Lamperti C. + Article (author) -
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature 2019 Gagliardi, DeliaMauri, EleonoraMagri, FrancescaMeneri, MegiAbati, ElenaBrusa, RobertaFaravelli, IreneRonchi, DarioTriulzi, FabioPeverelli, LorenzoBresolin, NereoComi, Giacomo PietroCorti, StefaniaGovoni, Alessandra + Article (author) -
Immune-mediated necrotizing myopathy due to statins exposure 2018 Lerario, AlbertoCalloni, SoniaPeverelli, LorenzoDE Liso, FedericaTriulzi, FabioCinnante, Claudia + Article (author) -
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 2018 MAGGI, LORENZOMagri, FrancescaPeverelli, LorenzoComi, Giacomo Pietro + Article (author) -
Rhabdomyolysis-Associated Acute Kidney Injury 2018 Ronchi, DarioComi, Giacomo P.Peverelli, Lorenzo + Article (author) -
A case report with the peculiar concomitance of 2 different genetic syndromes 2016 A. LerarioI. ColomboD. MilaniL. PeverelliL. VillaR. DEL BOG.P. ComiS. Esposito + Article (author) -
Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophy 2015 L. PeverelliS. TestolinL. VillaC. FaveroF. MagriG.P. Comi + Article (author) -
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 2013 D. RonchiA. BordoniS. PagliaraniL. PeverelliI.G. VetranoS. CortiN. BresolinG.P. Comi + Article (author) -
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 2013 D. RonchiA. BordoniE. FassoneS. PagliaraniM. RanieriF. MagriL. PeverelliS. CortiN. BresolinG.P. Comi + Article (author) -
Mutations in DNA2 cause progressive myopathy with mtDNA instability 2013 D. RonchiS. PagliaraniF. MagriL. PeverelliS. CortiN. BresolinG.P. Comi + Article (author) -
Intrafamilial phenotype-genotype variability in FSHD 2011 C. LampertiL. PeverelliR. Del BoG.P. Comi + Conference Object -
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition 2011 D. RonchiA. BordoniL. PeverelliI. ColomboF. MagriN. BresolinG.P. Comi + Article (author) -