about
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis.Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathyScreening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the diseaseDesmoplastic astrocytoma: new insights into its clinical profile, diagnosis, and treatment.Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.TK2 mutation presenting as indolent myopathy.Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets.Initial experience involving treatment and retreatment with carmustine wafers in combination with oral temozolomide: long-term survival in a child with relapsed glioblastoma multiforme.Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.[Laryngotracheal rhinoscleroma].Distribution of peptidergic populations in the human dentate gyrus (somatostatin [SOM-28, SOM-12] and neuropeptide Y [NPY]) during postnatal development.Neuromuscular disease classification system.Neural crest derived progenitor cells contribute to tumor stroma and aggressiveness in stage 4/M neuroblastoma.Hemimegalencephaly: prenatal diagnosis and outcome.Miliary brain metastases presenting as rapidly progressive dementia.Endoscopic Histologic Mapping of a Mixed Germ Pineal Tumor.Developmental study of vitamin C distribution in children's brainstems by immunohistochemistry.Developmental study of the distribution of hypoxia-induced factor-1 alpha and microtubule-associated protein 2 in children's brainstem: comparison between controls and cases with signs of perinatal hypoxia.The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease.Bone marrow cellular cannibalism by medulloblastoma.Congenital hypomyelinating neuropathy due to a novel MPZ mutationMacrophagic Myofasciitis in Childhood: A Controversial Entity[Extra-naso-pharyngeal angiofibroma: report of a new case and review of literature][Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome]A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle diseaseBeta-sarcoglycanopathy (LGMD 2E) in a Spanish familyFabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients[Diabetic male age 35 with spontaneous swelling of the left thigh]Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy[Erdheim-Chester disease]A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset
P50
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P50
description
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Eloy Rivas
@ast
Eloy Rivas
@en
Eloy Rivas
@es
Eloy Rivas
@nl
Eloy Rivas
@sl
type
label
Eloy Rivas
@ast
Eloy Rivas
@en
Eloy Rivas
@es
Eloy Rivas
@nl
Eloy Rivas
@sl
prefLabel
Eloy Rivas
@ast
Eloy Rivas
@en
Eloy Rivas
@es
Eloy Rivas
@nl
Eloy Rivas
@sl
P106
P31
P496
0000-0001-6014-8048