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Molecular analysis of LGMD-2B and MM patients: identification of novel DYSF mutations and possible founder effect in the Italian populationBeta-enolase deficiency, a new metabolic myopathy of distal glycolysisFacioscapulohumeral muscular dystrophy in mice overexpressing FRG1Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathyConstitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in miceClinical and genetic variability of glycogen storage disease type IIIa: seven novel AGL gene mutations in the Mediterranean area.The cortical signature of amyotrophic lateral sclerosis.Impaired expression of insulin-like growth factor-1 system in skeletal muscle of amyotrophic lateral sclerosis patients.High plasma creatine kinase: review of the literature and proposal for a diagnostic algorithm.Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile.Mitochondrial respiratory chain dysfunction in muscle from patients with amyotrophic lateral sclerosis.Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis.Skin-derived stem cells transplanted into resorbable guides provide functional nerve regeneration after sciatic nerve resection.IgD Multiple Myeloma Paraproteinemia as a Cause of Myositis.MRI predictors of long-term evolution in amyotrophic lateral sclerosis.Early vacuolization and mitochondrial damage in motor neurons of FALS mice are not associated with apoptosis or with changes in cytochrome oxidase histochemical reactivity.Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.Two dystrophin proteins and transcripts in a mild dystrophinopathic patient.Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.Aphasic and visual aura with increased vasogenic leakage: an atypical migrainosus status.Cytochrome c oxidase during human fetal development.New mutations in TK2 gene associated with mitochondrial DNA depletion.An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype.Neuropathological study of skeletal muscle, heart, liver, and brain in a neonatal form of glycogen storage disease type IV associated with a new mutation in GBE1 gene.A G+1-->A transversion at the 5' splice site of intron 69 of the dystrophin gene causing the absence of peripheral nerve Dp116 and severe clinical involvement in a DMD patient.Ryanodine receptor gene point mutation and malignant hyperthermia susceptibility.Assessment of white matter tract damage in patients with amyotrophic lateral sclerosis: a diffusion tensor MR imaging tractography study.Voxel-based morphometry study of brain volumetry and diffusivity in amyotrophic lateral sclerosis patients with mild disability.Adult polyglucosan body disease: clinical and histological heterogeneity of a large Italian family.Divergent brain network connectivity in amyotrophic lateral sclerosis.Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.The topography of brain microstructural damage in amyotrophic lateral sclerosis assessed using diffusion tensor MR imaging.New molecular findings in congenital myopathies due to selenoprotein N gene mutations.TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations.Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.Novel missense mutation and large deletion of GNE gene in autosomal-recessive inclusion-body myopathy.Sensorimotor Functional Connectivity Changes in Amyotrophic Lateral SclerosisPrimary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuriaIs erythropoietin gene a modifier factor in amyotrophic lateral sclerosis?Absence of angiogenic genes modification in Italian ALS patients
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P50
description
researcher ORCID ID = 0000-0002-7019-5291
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wetenschapper
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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type
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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Alessandro Prelle
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P106
P1153
7003497579
P21
P31
P496
0000-0002-7019-5291