CARECCHIO, MIRYAM

CARECCHIO, MIRYAM  

Dipartimento di Neuroscienze - DNS  

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Risultati 1 - 20 di 79 (tempo di esecuzione: 0.025 secondi).
Titolo Data di pubblicazione Autori Rivista Serie Titolo libro
A Missense Mutation in KCTD17 Causes Autosomal Dominant Myoclonus-Dystonia 2015 Carecchio M. + AMERICAN JOURNAL OF HUMAN GENETICS - -
A novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome 2022 Lenzini L.Carecchio M.Iori E.Avogaro A.Vitturi N. + MOLECULAR GENETICS AND METABOLISM REPORTS - -
A novel synonymous mutation in the MPZ gene causing an aberrant splicing pattern and Charcot-Marie-Tooth disease type 1b 2016 CORRADO, LARACarecchio M. + NEUROMUSCULAR DISORDERS - -
A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations 2017 Carecchio M. + MOVEMENT DISORDERS - -
ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients 2017 Carecchio M.Fusco C. + PARKINSONISM & RELATED DISORDERS - -
Adult diagnosis of Cockayne syndrome 2019 Carecchio M. + NEUROLOGY - -
Adult-Onset Focal Chorea in Fahr's Disease Resulting From SLC20A2 Mutation: A Novel Phenotype 2015 Carecchio M. + MOVEMENT DISORDERS CLINICAL PRACTICE - -
An adult patient with 3-methylglutaconic aciduria type 1 and movement disorders 2022 Lerjefors, LBonato, GBertolin, CSalviati, LCarecchio, M + JOURNAL OF NEUROLOGY - -
Antiphospholipid-Related Chorea: Two Case Reports and Role of Metabolic Imaging 2022 Lerjefors, LisaAndretta, SilviaBonato, GiuliaMainardi, MicheleCarecchio, MiryamAntonini, Angelo MOVEMENT DISORDERS CLINICAL PRACTICE - -
ATP1A3-related disorders: An update 2018 Carecchio M. + EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
Atypical Parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review 2010 Carecchio M. + MOVEMENT DISORDERS - -
C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients 2010 Carecchio M. + CLINICAL GENETICS - -
CANS: Childhood acute neuropsychiatric syndromes 2018 Carecchio M + EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY - -
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease 2021 Mozzetta S.Carecchio M.Gazzola G.Cecchin D.Cagnin A. NEUROLOGICAL SCIENCES - -
Cerebellar and cortical hypometabolism in progressive stimulus-sensitive limb myoclonus in celiac disease (Apr, 10.1007/s10072-021-05264-5, 2021) 2021 Mozzetta, SCarecchio, MGazzola, GCecchin, DCagnin, A NEUROLOGICAL SCIENCES - -
Cerebrospinal fluid biomarkers in progranulin mutations carriers 2011 Carecchio M. + JOURNAL OF ALZHEIMER'S DISEASE - -
Complex movement disorders in primary antiphospholipid syndrome: A case report 2009 Carecchio M. + JOURNAL OF THE NEUROLOGICAL SCIENCES - -
Correction to: Long-term safety, discontinuation and mortality in an Italian cohort with advanced Parkinson’s disease on levodopa/carbidopa intestinal gel infusion (Journal of Neurology, (2022), 269, 10, (5606-5614), 10.1007/s00415-022-11269-7) 2022 Russo F. P.Carrer T.Weis L.Pistonesi F.Sandre M.Savarino E.Farinati F.Biundo R.Carecchio M.Antonini A. + JOURNAL OF NEUROLOGY - -
Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” (Brain and Development (2019) 41(3) (250–256), (S0387760418304959), (10.1016/j.braindev.2018.10.001)) 2019 Carecchio M.Fusco C. + BRAIN & DEVELOPMENT - -
De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions 2016 NG, JULIA CHI YANCarecchio M. + AMERICAN JOURNAL OF HUMAN GENETICS - -