Ricardo Erazo-Torricelli

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES

Ricardo Erazo-Torricelli, Alejandra Gallardo, Enrico Bertini, Fabiana Fattori et autres

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CONGENITAL MYOPATHIES

Ricardo Erazo-Torricelli, Claudio Arce, Elisa Alcalde, Andoni Urtizberea et autres

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CONGENITAL MUSCULAR DYSTROPHIES

Ricardo Erazo-Torricelli, Andoni Urtizberea, Ana María Cobo, Pascale Richard et autres

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International retrospective natural history study of LMNA-related congenital muscular dystrophy Short Title: LMNA-CMD natural history

Rabah Ben Yaou, Pomi Yun, Adele D’Amico, Muntoni Francesco et autres

International audience

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International retrospective natural history study of LMNA -related congenital muscular dystrophy

Rabah Ben Yaou, Pomi Yun, Ivana Dabaj, Gina Norato et autres

Abstract Muscular dystrophies due to heterozygous pathogenic variants in LMNA gene cover a broad spectrum of clinical presentations and severity with an age of onset ranging from the neonatal period to adulthood. The natural history of these conditions is not well defined, …

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[Structural congenital myopathies].

Ricardo Erazo-Torricelli

INTRODUCTION: Congenital myopathies are a heterogeneous group of diseases that share clinical early onset and specific hystopathological alterations in muscle. Genetic studies allow to determine the causative mutation in most cases. Genotypic and phenotypic heterogeneity exists, which is illustrated by noting that …

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Miopatías estructurales congénitas [XXXVII Reunión Anual de la Sociedad Española de Neurología Pediátrica. XXI Congreso de la Academia Iberoamericana de Neurología Pediátrica]

Ricardo Erazo-Torricelli

[Acute disseminated encephalomyelitis in children].

Ricardo Erazo-Torricelli

AIM: Acute disseminated encephalomyelitis (ADEM) is an immune-mediated inflammatory-demyelinating disease, which usually follows an infection or vaccination. It is more frequent in children. In this paper, I will review clinical, diagnosis, treatment, and prognosis data, based on last 10 years papers, including …

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[Neonatal hypotonia].

Ricardo Erazo-Torricelli

INTRODUCTION: Neonatal hypotonia is a condition which appears to expand continually. Since the 1980s new clinical disorders, such as mitochondriopathies, peroxisomal diseases, disorders of the beta-oxidation of fatty acids, congenital myasthenic syndromes and botulism in infants have been described. At the same …

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