List of works - Eloy Rivas

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

scientific article

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

scientific article published on 01 July 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

scientific article published on 01 December 2004

Bone marrow cellular cannibalism by medulloblastoma.

scientific article

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

scientific article published on 14 May 2015

Cricopharyngeal myotomy in the treatment of oculopharyngeal muscular dystrophy

scientific article published on 14 August 2012

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

scientific article published on September 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.

scientific article published on 26 April 2014

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

scientific article published on 6 July 2015

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

scientific article

Endoscopic Histologic Mapping of a Mixed Germ Pineal Tumor.

scientific article

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

scientific article published on 07 February 2006

Hemimegalencephaly: prenatal diagnosis and outcome.

scientific article published on 14 September 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.

scientific article published in July 2010

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

scientific article published on 28 August 2014

Laryngotracheal rhinoscleroma

scientific article published in June 2008

Macrophagic Myofasciitis in Childhood: A Controversial Entity

scientific article published on 01 November 2005

Miliary brain metastases presenting as rapidly progressive dementia.

scientific article published in June 2005

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

scientific article published in March 2009

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

scientific article published on 21 September 2017

Neuromuscular disease classification system.

scientific article published in June 2013

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

scientific article

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

scientific article

Recovery of MERRF fibroblasts and cybrids pathophysiology by coenzyme Q10.

scientific article

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

scientific article

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

scientific article published on 30 June 2016

TK2 mutation presenting as indolent myopathy.

scientific article published on 9 January 2013

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

scientific article

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

scientific article published on 01 December 2006

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

scientific article published on 16 November 2011

[Erdheim-Chester disease]

scientific article published on 02 July 2014

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

scientific article published on 01 April 2002

List of works by 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]