Magalie Barth
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View article: Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study
Genome sequencing for the diagnosis of intellectual disability as a paradigm for rare diseases in the French healthcare setting: the prospective DEFIDIAG study Open
Prospectively registered with ClinicalTrials.gov under the identifier NCT04154891 (07/11/2019).
View article: Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies
Systematic analysis of snRNA genes reveals frequent <i>RNU2-2</i> variants in dominant and recessive developmental and epileptic encephalopathies Open
Variants in spliceosomal small nuclear RNA (snRNA) genes RNU4-2 (ReNU syndrome), RNU5B-1 , and RNU2-2 have recently been linked to dominant neurodevelopmental disorders (NDDs), revealing a major, previously overlooked role for noncoding sn…
View article: Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow
Advancing Neonatal Screening for Pyridoxine-Dependent Epilepsy-ALDH7A1 Through Combined Analysis of 2-OPP, 6-Oxo-Pipecolate and Pipecolate in a Butylated FIA-MS/MS Workflow Open
Pyridoxine-dependent epilepsy (PDE) represents a group of rare developmental and epileptic encephalopathies. The most common PDE is caused by biallelic pathogenic variants in ALDH7A1 (PDE-ALDH7A1; OMIM #266100), which encodes α-aminoadipat…
View article: Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis
Pantethine therapy dramatically rescues end‐stage failing heart in a patient with deficiency of coenzyme A biosynthesis Open
View article: Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study
Immunization coverage and timeliness of vaccination in young patients with inborn errors of metabolism: a French multicentric study Open
Background Inborn errors of metabolism (IEMs) are rare disorders that are heterogeneous in severity and clinical presentation. Patients with IEMs should receive the vaccination schedule recommended for the whole population, and specific va…
View article: Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series
Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series Open
The UK Medical Research Council, the European Research Council, and the Agence Nationale de la Recherche.
View article: PFMG2025–integrating genomic medicine into the national healthcare system in France
PFMG2025–integrating genomic medicine into the national healthcare system in France Open
As of December the 31st 2023, €239M have been invested by the French government.
View article: The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND
The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND Open
View article: Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study
Pain assessment and treatment in patients with mucopolysaccharidoses: a French multicentric pediatric study Open
Background : Mucopolysaccharidoses (MPS) are a group of rare genetic lysosomal storage disorders with a wide spectrum of clinical severities. Chronic pain is frequent but difficult to assess. The aim of this study was to evaluate the dete…
View article: Loss‐of‐Function Variants in <scp><i>CUL3</i></scp> Cause a Syndromic Neurodevelopmental Disorder
Loss‐of‐Function Variants in <span><i>CUL3</i></span> Cause a Syndromic Neurodevelopmental Disorder Open
Objective De novo variants in cullin‐3 ubiquitin ligase ( CUL3 ) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here, we aimed to collect sporadic cases carrying …
View article: Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency
Distinct Clinical Courses and Shortened Lifespans in Childhood-Onset DNA Polymerase Gamma Deficiency Open
The study demonstrates the prevalence of neurologic presentation and the extent of central, peripheral, and autonomous nervous system involvement in 60% of patients. Most of the patients with early onset and rapidly fatal hepatic failure d…
View article: Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma
Ketogenic diet enhances the anti-cancer effects of PD-L1 blockade in renal cell carcinoma Open
Introduction Clear cell renal cell carcinoma (ccRCC) is characterized by a predominant metabolic reprogramming triggering energy production by anaerobic glycolysis at the expense of oxydative phosphorylation. Ketogenic diet (KD), which con…
View article: Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of <scp><i>COASY</i></scp>‐associated diseases
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of <span><i>COASY</i></span>‐associated diseases Open
Objective COASY , the gene encoding the bifunctional enzyme CoA synthase, which catalyzes the last two reactions of cellular de novo coenzyme A (CoA) biosynthesis, has been linked to two exceedingly rare autosomal recessive disorders, such…
View article: Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect Open
Anoctamins are a family of Ca2+-activated proteins that may act as ion channels and/or phospholipid scramblases with limited understanding of function and disease association. Here, we identified five de novo and two inherited m…
View article: Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I
Case report: Diagnosis of ADCY5-related dyskinesia explaining the entire phenotype in a patient with atypical citrullinemia type I Open
In this case study, we report the case of a 13-year-old girl with citrullinemia type 1 (MIM #215700), an autosomal recessive inherited disorder of the urea cycle, which was confirmed by the identification of a homozygous pathogenic variant…
View article: Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder
Loss-of-function variants in<i>CUL3</i>cause a syndromic neurodevelopmental disorder Open
Purpose De novo variants in CUL3 (Cullin-3 ubiquitin ligase) have been strongly associated with neurodevelopmental disorders (NDDs), but no large case series have been reported so far. Here we aimed to collect sporadic cases carrying rare …
View article: Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study
Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study Open
Background Classical infantile‐onset Pompe disease (IOPD) is the most severe form of Pompe disease. Enzyme replacement therapy (ERT) has significantly increased survival but only a few studies have reported long‐term outcomes. Methods We r…
View article: Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome
Prospective Multicenter Validation of a Simple Blood Test for the Diagnosis of Glut1 Deficiency Syndrome Open
This study provides Class I evidence that a positive METAglut1 test accurately distinguishes patients with suspected GLUT1 deficiency syndrome from other neurologic syndromes as compared with invasive and genetic testing.
View article: Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders
Two New Cases of Bachmann–Bupp Syndrome Identified through the International Center for Polyamine Disorders Open
Recent identification of four additional polyaminopathies, including Bachmann–Bupp syndrome, have benefited from previous research on Snyder–Robinson syndrome in order to advance from research to treatment more quickly. As a result of the …
View article: TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease Open
View article: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders Open
TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in TRPM3 were identified in individuals with developmental and epi…
View article: Author response: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders
Author response: Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders Open
View article: Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish
Dominant ARF3 variants disrupt Golgi integrity and cause a neurodevelopmental disorder recapitulated in zebrafish Open
View article: Three-Country Snapshot of Ornithine Transcarbamylase Deficiency
Three-Country Snapshot of Ornithine Transcarbamylase Deficiency Open
X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle defect. The disease severity ranges from asymptomatic carrier state to severe neonatal presentation with hyperammonaemic encephalopathy. We audited the dia…
View article: An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy
An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy Open
Background Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients and their caregivers.…
View article: Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure
Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure Open
(1) Background: The development of mitochondrial medicine has been severely impeded by a lack of effective therapies. (2) Methods: To better understand Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-like episodes (MELAS) synd…
View article: Caregiver Perspective on the Initial Signs and Symptoms of Metachromatic Leukodystrophy
Caregiver Perspective on the Initial Signs and Symptoms of Metachromatic Leukodystrophy Open
Background: Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Historically m…
View article: An International Study of Caregiver-Reported Burden and Quality of Life in Metachromatic Leukodystrophy
An International Study of Caregiver-Reported Burden and Quality of Life in Metachromatic Leukodystrophy Open
Background: Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal disorder caused by mutations in the arylsulfatase A gene. Until now, there has been little information on the burden of MLD on patients and their caregivers…
View article: Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series
Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series Open
Background Mitochondrial disorders (MD) are metabolic diseases related to genetic mutations in mitochondrial DNA and nuclear DNA that cause dysfunction of the mitochondrial respiratory chain. Cognitive impairment and psychiatric symptoms a…
View article: Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease Open