about
Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophyPOPDC1(S201F) causes muscular dystrophy and arrhythmia by affecting protein traffickingClinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular AtrophyPrevalence of congenital muscular dystrophy in Italy: a population studyUpper girdle imaging in facioscapulohumeral muscular dystrophy.Mitochondrial network genes in the skeletal muscle of amyotrophic lateral sclerosis patientsDystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trialsNext generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutationsNovel FLNC mutation in a patient with myofibrillar myopathy in combination with late-onset cerebellar ataxia.Muscle imaging in patients with tubular aggregate myopathy caused by mutations in STIM1.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortThe genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patientsMYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Estrogens enhance myoblast differentiation in facioscapulohumeral muscular dystrophy by antagonizing DUX4 activity.A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease.Potential therapeutic targets for ALS: MIR206, MIR208b and MIR499 are modulated during disease progression in the skeletal muscle of patients.New ALS-Related Genes Expand the Spectrum Paradigm of Amyotrophic Lateral Sclerosis.Muscle MRI in neutral lipid storage disease (NLSD).Diagnostic anoctamin-5 protein defect in patients with ANO5-mutated muscular dystrophy.Association study reveals novel risk loci for sporadic inclusion body myositis.The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.Magnetic Resonance Imaging in a large cohort of facioscapulohumeral muscular dystrophy patients: pattern refinement and implications for clinical trials.Allele-specific DNA hypomethylation characterises FSHD1 and FSHD2.Muscle imaging in fibrodysplasia ossificans progressiva: The neurologist's perspective.Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.Novel mutations in KARS cause hypertrophic cardiomyopathy and combined mitochondrial respiratory chain defect.A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.Teaching video neuroimages: complicated scapular winging.Progressive multifocal leukoencephalopathy in a patient with Franklin disease and hypogammaglobulinemia.Calf muscle involvement in Becker muscular dystrophy: when size does not matter.Hereditary myopathy with early respiratory failure (HMERF): Still rare, but common enough.MRI in sarcoglycanopathies: a large international cohort study.'Pathognomonic' muscle imaging findings in DNAJB6 mutated LGMD1D.Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.Neuromyopathy with congenital cataracts and glaucoma: a distinct syndrome caused by POLG variants.Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.Muscle Microdialysis to Investigate Inflammatory Biomarkers in Facioscapulohumeral Muscular Dystrophy.Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
P50
Q24306218-E71A6BC4-538D-48CE-BDB9-03F23E80C295Q27332394-0B1026DF-DD9E-4287-B6D9-C40203C7327AQ28115358-678038EC-7458-4DF8-AF1B-2F6BA558C107Q28115590-94B11241-33C7-4FB1-8862-2CD1F2B14C5BQ28256516-13FB691E-5197-4E8C-B91E-E9F30F881737Q33763548-D0A073C6-FB61-46BA-B473-15104A91DD9EQ34612409-0A157E23-F0DF-4713-BDEE-C8224624EB42Q35606737-46FE157C-5157-415F-B704-7E3D159AAB2BQ35852103-77F3C756-65AE-43A4-AE69-9A19CDC87D1CQ36103930-A0FE0189-2032-4F54-BD76-CEFEAA3F756AQ36621095-760C4AC2-720A-4E08-A336-F15D6FA15FB0Q36676080-72BEE59F-AF07-4751-9154-82FDD240B64FQ37063440-3A50CB0A-8B34-4F67-8827-D10295DB7D21Q37073909-480BC83B-F757-4133-AD49-8EA7E824A42AQ37730654-F1B6FE9F-471B-47CA-A84F-6E8ED7F2FE35Q38502090-95AE2738-AB33-46F4-859C-2A8331E9E9B2Q38607563-F69F0B99-809A-4D4D-8EFF-B3A9DFBAA466Q38701291-7B443DC7-37C4-417A-950D-000F2871F685Q38786572-CBD4613E-134D-4D66-88C7-62F71C100E92Q38794403-34761E38-2579-4FAC-BCF3-8892772B149AQ38944635-2A906F38-C740-43AB-9F98-213432AD9935Q39762444-811735FF-EC91-4460-B93A-0A4F7DD77A36Q39905506-177DE68A-2836-4FD5-B613-2866FC2CFF32Q40035950-222FA82F-9ED8-424F-A74D-06C0D09BECE2Q41159363-019325D9-5D3F-4AD1-A066-EB2D93625D57Q41750961-0A8BB007-DF11-4CD1-B5C2-0C4CB1E4DE1FQ41921670-10116A62-0A38-4D69-A079-BC123EFA2687Q43032794-E568F1AA-C458-4152-8215-A43FB45118DDQ44487201-4CA0C7AE-E8E4-45AB-BC06-8D07E93EFC64Q44569785-C0EC80A5-9331-48B2-8C37-DB7C87B30840Q46018967-5AB82ECD-4D84-4B2F-8AC4-2DEF2D78B6A6Q47422028-BE44E7B1-AFC5-46A8-A548-DFDE290ACF77Q47649774-4FE2EE82-B3B5-486C-A04D-8E204B0FC553Q47827652-92FB6F01-3A34-4E44-A2D4-504D0247AC39Q47985315-9B4AC8E4-D753-4448-BC27-1CA14FE25627Q48103309-983DBF42-00FE-4D3A-ACAC-DF82B0E05A0CQ48190829-2C363C32-B464-4169-ACDF-DD5DF5C89B49Q48194360-2552B186-751A-44B5-A22D-9F1817285812Q48214729-8F0F2D45-EE56-4E7D-B397-8AC9E9BDD3F4Q49025523-6C9E2B1B-5E16-44C1-A314-B7ACD6EB1788
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Giorgio Tasca
@ast
Giorgio Tasca
@en
Giorgio Tasca
@es
Giorgio Tasca
@nl
Giorgio Tasca
@sl
type
label
Giorgio Tasca
@ast
Giorgio Tasca
@en
Giorgio Tasca
@es
Giorgio Tasca
@nl
Giorgio Tasca
@sl
prefLabel
Giorgio Tasca
@ast
Giorgio Tasca
@en
Giorgio Tasca
@es
Giorgio Tasca
@nl
Giorgio Tasca
@sl
P106
P1153
36724022700
P31
P496
0000-0003-0849-9144