Lista de obras - Eloy Rivas - Dominio Público Uruguay

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

artículo científico publicado en 2016

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

artículo científico publicado en 2004

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset

scientific article published on 18 May 2020

Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family

artículo científico publicado en 2004

Bone marrow cellular cannibalism by medulloblastoma.

artículo científico publicado en 2014

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

scientific article published on 01 December 2011

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

artículo científico publicado en 2015

Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy

artículo científico publicado en 2012

Desmoplastic astrocytoma: new insights into its clinical profile, diagnosis, and treatment.

artículo científico publicado en 2016

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.

artículo científico publicado en 2014

Developmental study of vitamin C distribution in children's brainstems by immunohistochemistry.

artículo científico publicado en 2015

Distribution of peptidergic populations in the human dentate gyrus (somatostatin [SOM-28, SOM-12] and neuropeptide Y [NPY]) during postnatal development.

artículo científico publicado en 2014

Endoscopic Histologic Mapping of a Mixed Germ Pineal Tumor.

artículo científico publicado en 2016

Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients

artículo científico publicado en 2006

Hemimegalencephaly: prenatal diagnosis and outcome.

artículo científico publicado en 2011

Initial experience involving treatment and retreatment with carmustine wafers in combination with oral temozolomide: long-term survival in a child with relapsed glioblastoma multiforme.

artículo científico publicado en 2010

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

artículo científico publicado en 2014

Laryngotracheal rhinoscleroma

artículo científico publicado en 2008

Macrophagic Myofasciitis in Childhood: A Controversial Entity

artículo científico publicado en 2005

Miliary brain metastases presenting as rapidly progressive dementia.

artículo científico publicado en 2005

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

artículo científico publicado en 2009

Neural crest derived progenitor cells contribute to tumor stroma and aggressiveness in stage 4/M neuroblastoma. ⬇️

artículo científico publicado en 2017

Neuromuscular disease classification system.

artículo científico publicado en 2013

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

artículo científico publicado en 2012

Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis.

artículo científico publicado en 2013

Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.

artículo científico publicado en 2012

Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease

artículo científico publicado en 2012

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

artículo científico publicado en 2016

TK2 mutation presenting as indolent myopathy.

artículo científico publicado en 2013

The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease

artículo científico publicado en 2015

[Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome]

artículo científico publicado en 2006

[Diabetic male age 35 with spontaneous swelling of the left thigh]

scientific article published on 16 November 2011

[Erdheim-Chester disease]

artículo científico publicado en 2014

[Extra-naso-pharyngeal angiofibroma: report of a new case and review of literature]

scientific article published on 01 April 2002

Lista de obras de Eloy Rivas

A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.

A new rare mutation (691delCC/insAAA) in exon 17 of the PYGM gene causing McArdle disease

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset

Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family

Bone marrow cellular cannibalism by medulloblastoma.

Congenital hypomyelinating neuropathy due to a novel MPZ mutation

Correction: Gene Expression Profiling Identifies Molecular Pathways Associated with Collagen VI Deficiency and Provides Novel Therapeutic Targets

Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy

Desmoplastic astrocytoma: new insights into its clinical profile, diagnosis, and treatment.

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.

Developmental study of vitamin C distribution in children's brainstems by immunohistochemistry.

Distribution of peptidergic populations in the human dentate gyrus (somatostatin [SOM-28, SOM-12] and neuropeptide Y [NPY]) during postnatal development.

Endoscopic Histologic Mapping of a Mixed Germ Pineal Tumor.

Fabry disease: an ultrastructural comparative study of skin in hemizygous and heterozygous patients

Hemimegalencephaly: prenatal diagnosis and outcome.

Initial experience involving treatment and retreatment with carmustine wafers in combination with oral temozolomide: long-term survival in a child with relapsed glioblastoma multiforme.

Junctophilin-1 is a modifier gene of GDAP1-related Charcot-Marie-Tooth disease.

Laryngotracheal rhinoscleroma

Macrophagic Myofasciitis in Childhood: A Controversial Entity

Miliary brain metastases presenting as rapidly progressive dementia.

Myoadenylate deaminase deficiency: clinico-pathological and molecular study of a series of 27 Spanish cases.

Neural crest derived progenitor cells contribute to tumor stroma and aggressiveness in stage 4/M neuroblastoma. ⬇️

Neuromuscular disease classification system.

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Quantifiable diagnosis of muscular dystrophies and neurogenic atrophies through network analysis.

Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.

Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

TK2 mutation presenting as indolent myopathy.

The role of 18FDG, 18FDOPA PET/CT and 99mTc bone scintigraphy imaging in Erdheim-Chester disease

[Cerebral amyloid angiopathy, recurrent intracerebral haemorrhages and Down's syndrome]

[Diabetic male age 35 with spontaneous swelling of the left thigh]

[Erdheim-Chester disease]

[Extra-naso-pharyngeal angiofibroma: report of a new case and review of literature]