Sandrine Vuillaumier‐Barrot
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View article: An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA
An ALG12-CDG patient with a novel homozygous intronic mutation associated with low ALG12 mRNA Open
View article: 2024 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing
2024 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing Open
Diagnosing rare muscle diseases can be challenging due to their genetic heterogeneity. In order to coordinate the genetic diagnosis by a gene panel approach, the French National Network for Rare Neuromuscular Diseases (FILNEMUS) has previo…
View article: A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis Open
View article: A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis
A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis Open
View article: Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2‐CDG Open
We report on the largest single dataset of patients with PMM2‐CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studi…
View article: <scp><i>GGPS1</i></scp>‐associated muscular dystrophy with and without hearing loss
<span><i>GGPS1</i></span>‐associated muscular dystrophy with and without hearing loss Open
Ultra‐rare biallelic pathogenic variants in geranylgeranyl diphosphate synthase 1 ( GGPS1 ) have recently been associated with muscular dystrophy/hearing loss/ovarian insufficiency syndrome. Here, we describe 11 affected individuals from f…
View article: Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings Open
View article: High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia
High-throughput imaging of ATG9A distribution as a diagnostic functional assay for adaptor protein complex 4-associated hereditary spastic paraplegia Open
Adaptor protein complex 4-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four subunits of this obligate complex. While the diagnosis of adapto…
View article: SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy
SLC37A4-CDG: New biochemical insights for an emerging congenital disorder of glycosylation with major coagulopathy Open
View article: MAN1B1-CDG: Three new individuals and associated biochemical profiles
MAN1B1-CDG: Three new individuals and associated biochemical profiles Open
View article: Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue!
Normal transferrin patterns in congenital disorders of glycosylation with Golgi homeostasis disruption: apolipoprotein C-III at the rescue! Open
View article: A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction Open
View article: Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation
Consensus guideline for the diagnosis and management of mannose phosphate isomerase‐congenital disorder of glycosylation Open
Mannose phosphate isomerase‐congenital disorder of glycosylation (MPI‐CDG) deficiency is a rare subtype of congenital disorders of protein N ‐glycosylation. It is characterised by deficiency of MPI caused by pathogenic variants in MPI gene…
View article: Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient
Wide clinical spectrum in ALG8-CDG: clues from molecular findings suggest an explanation for a milder phenotype in the first-described patient Open
View article: Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation
Complementarity of electrophoretic, mass spectrometric, and gene sequencing techniques for the diagnosis and characterization of congenital disorders of glycosylation Open
Congenital disorders of glycosylation (CDG) are rare autosomal genetic diseases affecting the glycosylation of proteins and lipids. Since CDG‐related clinical symptoms are classically extremely variable and nonspecific, a combination of el…
View article: CCDC115-CDG: A new rare and misleading inherited cause of liver disease
CCDC115-CDG: A new rare and misleading inherited cause of liver disease Open
View article: A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome
A simple blood test expedites the diagnosis of glucose transporter type 1 deficiency syndrome Open
Glucose transporter type 1 (GLUT1) deficiency syndrome (GLUT1‐DS) leads to a wide range of neurological symptoms. Ketogenic diets are very efficient to control epilepsy and movement disorders. We tested a novel simple and rapid blood test …
View article: Gènes impliqués dans les alpha-dystroglycanopathies
Gènes impliqués dans les alpha-dystroglycanopathies Open
role essentiel au niveau du complexe dystrophine-glycoproteines, en reliant les filaments d’actine du cytosquelette a la matrice extracellulaire [4]. Elles servent de recepteurs pour les proteines de la matrice extracellulaire possedant de…
View article: A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity
A case of fatal Type I congenital disorders of glycosylation (CDG I) associated with low dehydrodolichol diphosphate synthase (DHDDS) activity Open
View article: Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy
Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy Open
Aim Epilepsy is commonly observed in congenital disorders of glycosylation ( CDG ), but no distinctive electroclinical pattern has been recognized. We aimed at identifying a characteristic clinical presentation that might help targeted dia…
View article: A Case of Progressive Chorea Resulting From <scp>GLUT</scp> 1 Deficiency
A Case of Progressive Chorea Resulting From <span>GLUT</span> 1 Deficiency Open
Glucose transporter 1 (GLUT1) deficiency syndrome is caused by solute carrier family 2, facilitated glucose transporter member 1 (SLC2A1) gene mutations. These mutations cause impaired glucose transports into the brain, leading to cerebral…
View article: Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein
Dystroglycanopathies: About Numerous Genes Involved in Glycosylation of One Single Glycoprotein Open
Dystroglycanopathies are neuromuscular disorders due to abnormal glycosylation of dystroglycan which is a cell-surface glycoprotein that acts as a receptor for extracellular matrix proteins containing laminin-G domains. The reduced ability…