about
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1FSPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophyOld and new therapeutic developments in steroid treatment in Duchenne muscular dystrophyMuscle fatigue, nNOS and muscle fiber atrophy in limb girdle muscular dystrophyDefective assembly of sarcoglycan complex in patients with beta-sarcoglycan gene mutations. Study of aneural and innervated cultured myotubesLiver fatty acid-binding protein in two cases of human lipid storageSubacute sensory ataxia and optic neuropathy with thiamine deficiencyDysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophyA novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in functionBeta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complexThe clinical spectrum of sarcoglycanopathiesMutations in the sarcoglycan genes in patients with myopathyCardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Risk prediction for clinical phenotype in myotonic dystrophy type 1: data from 2,650 patients.Different atrophy-hypertrophy transcription pathways in muscles affected by severe and mild spinal muscular atrophy.Epidemiology of ALS in Padova district, Italy, from 1992 to 2005.Screening for mutations in the muscle promoter region and for exonic deletions in a series of 115 DMD and BMD patients.Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.Generation of induced Pluripotent Stem Cells as disease modelling of NLSDMOverexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients.The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesCalpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophyNew therapies in muscular dystrophies.Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.Molecular and muscle pathology in a series of caveolinopathy patients.Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1.Genotype-phenotype correlation in Pompe disease, a step forward.Quality of life and motor impairment in ALS: Italian validation of ALSAQ.Population frequency of myotonic dystrophy: higher than expected frequency of myotonic dystrophy type 2 (DM2) mutation in Finland.Generalized lysosome-associated membrane protein-2 defect explains multisystem clinical involvement and allows leukocyte diagnostic screening in Danon disease.Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian comparative study.Novel sarcoglycan gene mutations in a large cohort of Italian patients.Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy.Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2EUltrastructural changes in dysferlinopathy support defective membrane repair mechanism.Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure.Dysferlinopathy course and sportive activity: clues for possible treatment
P50
Q21133534-A8A5677B-A251-45A2-A852-C579154910B4Q24630041-3E54C7CF-6956-43D3-8242-D47603900ACBQ26852709-5CEB94A8-0A9B-4D81-97C7-235D1227EBCFQ28083989-975EAF26-638E-453D-932D-161D9313720AQ28203915-6C74CF40-4643-4D64-9B78-74AC9E18800BQ28268171-546A87C8-AFF6-4605-BCDB-25BBF89A36A6Q28277383-2F1989C9-9E3B-4C8F-9745-5CD6E7C16F5DQ28281738-9EFF0692-577D-4E28-9959-22FA0D5BBCD7Q28289677-BA18D7E1-0A45-4CAD-ACF5-7FE878D94342Q28290790-DD003B0B-C676-4D8F-A172-E7468DC2136FQ28295516-4E2D8CD1-983E-46F4-B05E-454BC84A9E05Q28303606-20313E1C-F20C-437C-932A-B5A0DDFD25D1Q30446533-F0761C78-D27C-4278-B4A4-7F9BD9355135Q31107500-E84CABA6-2588-4EED-80E3-796F9B5716ACQ33427606-F95054FA-080B-437B-982D-C3DD45438BF3Q33453858-F00B1FE4-C533-4FD5-AF9B-40ED0AC7C8AEQ33593754-FEEA8C48-2663-42D1-BB2A-44BFA8C186D9Q33676111-B5D27B44-FD3F-4F6F-BFBA-E66F078F7569Q33679819-96E6FA60-2790-445D-BEF6-0EDD4145F1CBQ33695645-1271318C-C171-49DA-8455-F5575B039EBEQ33894799-3DCA2443-1B1C-4E36-B458-266DA4979BAAQ34042850-EE5A3A14-AF8F-4655-9EF1-E547FC1FA137Q34207404-9DA76E53-22FB-4D8F-8E50-37AA682DE93EQ34266481-71701F44-8CA5-4B44-A0E9-70DC77A15B0EQ34267309-413E5FCB-ABAB-4493-8BEE-F964E9489856Q34302504-78CBBCA3-CE8F-4FE7-842A-7A12B224D383Q34373717-584956CE-A09C-43F9-96D7-DE29E90C41A8Q34498329-47EA07C9-DB64-42C2-A9B6-6FED284C6FD6Q34598948-7C4EEBB3-5883-468D-B19C-EAEAF9CD3437Q34616055-1242C3A4-D2FC-4D1B-9691-C9B4D167479BQ34627289-B3B64EA3-7F30-4B88-90BC-EA5D861C329FQ35088111-4CD04DDE-021E-4CDE-873E-BCFE1ECE8B0FQ35206606-05EB6397-0C38-42B1-9D96-423FF3C0ED09Q35442324-41DE9A29-F47C-4AF3-9FFA-E8F36BD04762Q35449040-87159382-6A98-4319-8FEB-FE538B4DF463Q35488976-B767650B-2AFB-42F0-8954-0CE656CF2065Q35582438-7523EF8A-6CDC-4DF2-8799-7A27D3691BB9Q35588331-86BA7B9E-CEAA-42D7-AC88-B53AE81FD63AQ35602263-58048C1E-5F03-451D-9F62-7ECC009B1084Q35607518-57951BE3-8414-4036-BF8F-8CEACEA05DD7
P50
description
hulumtues
@sq
researcher
@en
ricercatore
@it
wetenschapper
@nl
հետազոտող
@hy
name
Corrado Angelini
@ast
Corrado Angelini
@en
Corrado Angelini
@es
Corrado Angelini
@nl
Corrado Angelini
@sl
type
label
Corrado Angelini
@ast
Corrado Angelini
@en
Corrado Angelini
@es
Corrado Angelini
@nl
Corrado Angelini
@sl
prefLabel
Corrado Angelini
@ast
Corrado Angelini
@en
Corrado Angelini
@es
Corrado Angelini
@nl
Corrado Angelini
@sl
P1006
P214
P1006
P106
P1153
56819209600
7101844336
P1343
P21
P214
P2798
P31
P396
IT\ICCU\CFIV\131467
P496
0000-0002-9554-8794
P569
1941-01-01T00:00:00Z
P734
P735
P7859
lccn-n80129559
P7865
95a5yja38danygu695b5yc9k64u3cdr