PEVERELLI, LORENZO

PEVERELLI, LORENZO  

Universita' degli Studi di MILANO  

Risultati 1 - 18 di 18 (tempo di esecuzione: 0.14 secondi).
Titolo Data di pubblicazione Autore(i) Tipo File Abstract
A case report with the peculiar concomitance of 2 different genetic syndromes 1-gen-2016 A. LerarioI. ColomboD. MilaniL. PeverelliL. VillaR. DEL BOG.P. ComiS. Esposito + Article (author) -
Caratterizzazione clinica e molecolare della mutazione MERRF A8344G in una famiglia senza coinvolgimento del SNC 1-gen-2010 V. LucchiniD. RonchiM. G. D'AngeloA. BordoniL. PeverelliN. BresolinG.P. Comi + Conference Object -
Copy number variants account for a tiny fraction of undiagnosed myopathic patients 1-nov-2018 MAGGI, LORENZOMagri, FrancescaPeverelli, LorenzoComi, Giacomo Pietro + 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) 1-gen-2019 Peverelli, LorenzoTabano, SilviaGhezzi, DanieleLamperti, Costanza + Article (author) -
Immune-mediated necrotizing myopathy due to statins exposure 1-dic-2018 Lerario, AlbertoCalloni, SoniaPeverelli, LorenzoDE Liso, FedericaTriulzi, FabioCinnante, Claudia + Article (author) -
Incidental Mitochondrial Myopathy 1-gen-2010 V. CrugnolaV. LucchiniD. RonchiM.G. D'AngeloA. BordoniL. PeverelliN. BresolinG.P. Comi + Conference Object -
Incontinence in late onset pompe disease : an underdiagnosed although potentially treatable condition 1-gen-2011 D. RonchiA. BordoniL. PeverelliI. ColomboF. MagriN. BresolinG.P. Comi + Article (author) -
Intrafamilial phenotype-genotype variability in FSHD 1-gen-2011 C. LampertiL. PeverelliR. Del BoG.P. Comi + Conference Object -
Leber's hereditary optic neuropathy : A report on novel mtDNA pathogenic variants 9-giu-2021 Peverelli L.Lamantea E.Ghezzi D.Lamperti C. + Article (author) -
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis 1-giu-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) -
Miopatia mitocondriale con fenotipo clinico “limb-girdle”: studio morfologico e biomolecolare 1-gen-2010 V. LucchiniD. RonchiM. G. D'AngeloA. BordoniL. PeverelliN. BresolinG. P. Comi + Conference Object -
Mitochondrial respiratory chain dysfunction in muscle from patients with Amyotrophic Lateral Sclerosis 1-lug-2010 V. CrugnolaC. LampertiV. LucchiniD. RonchiL. PeverelliA. BordoniE. FassoneF.R. FortunatoS.P. CortiV. SilaniN. BresolinS.I. Di MauroG.P. Comi + Article (author) -
Mutations in DNA2 cause progressive myopathy with mtDNA instability 1-gen-2013 D. RonchiS. PagliaraniF. MagriL. PeverelliS. CortiN. BresolinG.P. Comi + Article (author) -
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 1-gen-2013 D. RonchiA. BordoniS. PagliaraniL. PeverelliI.G. VetranoS. CortiN. BresolinG.P. Comi + Article (author) -
Mutations in DNA2 link progressive myopathy to mitochondrial DNA instability 7-feb-2013 D. RonchiA. BordoniE. FassoneS. PagliaraniM. RanieriF. MagriL. PeverelliS. CortiN. BresolinG.P. Comi + Article (author) -
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form 1-set-2020 Pagliarani S.Lerario A.Conte G.Cinnante C.Comi G. P.Peverelli L. + Article (author) -
Spontaneous hydro(syringo)myelic cavity in two unrelated patients with late onset pompe disease: is this a fortuitous association? 1-mar-2011 D. RonchiC. LampertiA. BordoniL. PeverelliI. ColomboF. MagriN. BresolinG. Comi + Article (author) -
Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy 1-apr-2020 Del Bo R.Comi G. P.Peverelli L. + Article (author) -