List of works - May Christine V Malicdan

A congenital neutrophil defect syndrome associated with mutations in VPS45.

scientific article published on 05 June 2013

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

scientific article published on 16 October 2017

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

scientific article

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

scientific article published on 16 May 2018

Cover Image, Volume 173A, Number 12, December 2017.

scientific article published in December 2017

Defective ciliogenesis in INPP5E-related Joubert syndrome.

scientific article published on 20 October 2017

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

scientific article published on 09 March 2020

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

scientific article published on March 2017

Diagnosis of Chediak Higashi disease in a 67-year old woman

scientific article published on 29 September 2020

Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

article

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

scientific article

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

scientific article

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

scientific article published on 30 August 2016

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia

scientific article published on 04 December 2018

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

scientific article

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

scientific article published on 2 November 2017

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development

scientific article published on 16 June 2020

List of works by May Christine V Malicdan

A congenital neutrophil defect syndrome associated with mutations in VPS45.

A novel inborn error of the coenzyme Q10 biosynthesis pathway: cerebellar ataxia and static encephalomyopathy due to COQ5 C-methyltransferase deficiency

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report.

Cover Image, Volume 173A, Number 12, December 2017.

Defective ciliogenesis in INPP5E-related Joubert syndrome.

Deficiency in the endocytic adaptor proteins PHETA1/2 impair renal and craniofacial development

Deleterious variants in TRAK1 disrupt mitochondrial movement and cause fatal encephalopathy.

Diagnosis of Chediak Higashi disease in a 67-year old woman

Early infantile onset epileptic encephalopathy 28 due to a homozygous microdeletion involving the WWOX gene in a region of uniparental disomy

Identification of an Alu element-mediated deletion in the promoter region of GNE in siblings with GNE myopathy.

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Mitochondrial epileptic encephalopathy, 3-methylglutaconic aciduria and variable complex V deficiency associated with TIMM50 mutations

Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome.

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development