List of works - Pascale de Lonlay

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

scientific article

Antenatal manifestations of mitochondrial respiratory chain deficiency

scientific article

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

scientific article

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

scientific article

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

scientific article published on 14 September 2020

Congenital hyperinsulinism: current trends in diagnosis and therapy ⬇️

scientific article published on 03 October 2011

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion

scientific article published on 10 January 2006

Familial focal congenital hyperinsulinism

scientific article published on 13 October 2010

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

scientific article

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

scientific article published on 26 September 2011

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy ⬇️

scientific article

Inborn errors of metabolism underlying primary immunodeficiencies

scientific article published on August 2014

KATP channel mutations in congenital hyperinsulinism ⬇️

scientific article published on February 1, 2011

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

scientific article published on 13 September 2017

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

scientific article

Molecular mechanisms of neonatal hyperinsulinism

scientific article published on 26 September 2006

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

scientific article published on 10 October 2016

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

scientific article

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

scientific article

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

scientific article published on 12 March 2012

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

scientific article

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

scientific article

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

scientific article published on 17 December 2013

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

article

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

scientific article

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

scientific article published in March 2006

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

scientific article published in May 2009

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

scientific article

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism

scientific article published on February 2009

List of works by Pascale de Lonlay

A thermolabile aldolase A mutant causes fever-induced recurrent rhabdomyolysis without hemolytic anemia

Antenatal manifestations of mitochondrial respiratory chain deficiency

Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect

Congenital hyperinsulinism: current trends in diagnosis and therapy ⬇️

Congenital hyperinsulinism: pancreatic [18F]fluoro-L-dihydroxyphenylalanine (DOPA) positron emission tomography and immunohistochemistry study of DOPA decarboxylase and insulin secretion

Familial focal congenital hyperinsulinism

Identification of a novel ARL13B variant in a Joubert syndrome-affected patient with retinal impairment and obesity

In vitro insulin secretion by pancreatic tissue from infants with diazoxide-resistant congenital hyperinsulinism deviates from model predictions

In vitro recovery of ATP-sensitive potassium channels in β-cells from patients with congenital hyperinsulinism of infancy ⬇️

Inborn errors of metabolism underlying primary immunodeficiencies

KATP channel mutations in congenital hyperinsulinism ⬇️

Long-term metabolic follow-up and clinical outcome of 35 patients with maple syrup urine disease

Maternal uniparental disomy of chromosome 2 in a patient with a DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Molecular mechanisms of neonatal hyperinsulinism

Mosaicism in ATP1A3-related disorders: not just a theoretical risk

Multiple sources of metabolic disturbance in ETHE1-related ethylmalonic encephalopathy

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy

Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature

Mutations in UCP2 in congenital hyperinsulinism reveal a role for regulation of insulin secretion

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

Mutations of TSEN and CASK genes are prevalent in pontocerebellar hypoplasias type 2 and 4

New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

Structural insights on pathogenic effects of novel mutations causing pyruvate carboxylase deficiency.

The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome

Update of mutations in the genes encoding the pancreatic beta-cell K(ATP) channel subunits Kir6.2 (KCNJ11) and sulfonylurea receptor 1 (ABCC8) in diabetes mellitus and hyperinsulinism