about
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloproteaseDifferent mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.Zebrafish as a Model to Investigate Dynamin 2-Related Diseases.DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of MyopathiesClinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological studyCongenital muscular dystrophies with defective glycosylation of dystroglycan: a population studyPrevalence of congenital muscular dystrophy in Italy: a population studyClinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)The alliance between genetic biobanks and patient organisations: the experience of the telethon network of genetic biobanksPOMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsRemodeling of the chromatin structure of the facioscapulohumeral muscular dystrophy (FSHD) locus and upregulation of FSHD-related gene 1 (FRG1) expression during human myogenic differentiationLate onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvement.Severe X-linked mitochondrial encephalomyopathy associated with a mutation in apoptosis-inducing factor.Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseasesVariable disease severity in Saudi Arabian and Sudanese families with c.3924 + 2 T > C mutation of LAMA2.Immunohistochemical analysis of dystrophin-associated proteins in Becker/Duchenne muscular dystrophy with huge in-frame deletions in the NH2-terminal and rod domains of dystrophinThe "bystander effect": association of U-87 cell death with ganciclovir-mediated apoptosis of nearby cells and lack of effect in athymic mice.Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice.Novel PTRF mutation in a child with mild myopathy and very mild congenital lipodystrophy.Fibrosis and inflammation are greater in muscles of beta-sarcoglycan-null mouse than mdx mouse.The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.A Calsequestrin-1 Mutation Associated with a Skeletal Muscle Disease Alters Sarcoplasmic Ca2+ Release.Histologic muscular history in steroid-treated and untreated patients with Duchenne dystrophyRespiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency.Exome sequencing and functional validation in zebrafish identify GTDC2 mutations as a cause of Walker-Warburg syndrome.Needle biopsy for muscle diagnosis and research: an Italian experience.Centronuclear myopathy related to dynamin 2 mutations: clinical, morphological, muscle imaging and genetic features of an Italian cohortFetus-like dystrophin expression and other cytoskeletal protein abnormalities in centronuclear myopathies.Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphataseNovel findings associated with MTM1 suggest a higher number of female symptomatic carriers.The 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.Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.Telethon Network of Genetic Biobanks: a key service for diagnosis and research on rare diseases.Familial adult-onset Pompe disease associated with unusual clinical and histological features.A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia.Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy.
P50
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P50
description
hulumtuese
@sq
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Marina Mora
@ast
Marina Mora
@en
Marina Mora
@es
Marina Mora
@nl
Marina Mora
@sl
type
label
Marina Mora
@ast
Marina Mora
@en
Marina Mora
@es
Marina Mora
@nl
Marina Mora
@sl
altLabel
Mora M
@en
prefLabel
Marina Mora
@ast
Marina Mora
@en
Marina Mora
@es
Marina Mora
@nl
Marina Mora
@sl
P1053
J-2883-2018
P106
P1153
57193076465
7102515608
P21
P2798
P31
P496
0000-0002-5765-2320