Lista de obras -

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

artículo científico publicado en 2013

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

artículo científico publicado en 2013

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

artículo científico publicado en 2018

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

scientific article published on 01 October 2018

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

artículo científico publicado en 2017

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

artículo científico publicado en 2016

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

artículo científico publicado en 2013

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

scientific article published on 20 July 2018

Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane ⬇️

artículo científico publicado el 1 de febrero de 2002

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

artículo científico publicado en 2014

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

artículo científico publicado en 2012

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review

artículo científico publicado en 2013

Child neurology: differential diagnosis of a low CSF glucose in children and young adults

artículo científico

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

artículo científico publicado en 2016

Clinical utility gene card for: Gitelman syndrome

artículo científico

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

artículo científico

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

artículo científico publicado en 2016

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

scientific journal article

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

artículo científico publicado en 2016

Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity

artículo científico publicado en 2006

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

artículo científico publicado en 2013

Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels

artículo científico publicado en 2008

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

artículo científico publicado en 2017

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation

artículo científico publicado en 2009

Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

artículo científico publicado en 2005

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

artículo científico publicado en 2015

MAL decreases the internalization of the aquaporin-2 water channel

artículo científico publicado en 2007

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

artículo científico publicado en 2016

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

artículo científico publicado en 2013

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

artículo científico publicado en 2007

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

artículo científico publicado en 2015

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet ⬇️

artículo científico publicado el 25 de junio de 2013

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

artículo científico publicado en 2016

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

artículo científico publicado en 2012

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

artículo científico publicado en 2012

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

artículo científico publicado en 2016

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

artículo científico publicado en 2019

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

artículo científico publicado en 2013

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients ⬇️

artículo científico publicado el 27 de febrero de 2013

RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter

artículo científico publicado en 2010

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

artículo científico publicado en 2015

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus

artículo científico publicado en 2009

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

artículo científico publicado en 2003

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

artículo científico publicado en 2009

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

artículo científico publicado en 2012

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

artículo científico publicado en 2006

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

artículo científico publicado en 2010

Tetraspan proteins: regulators of renal structure and function

artículo científico publicado en 2007

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

artículo científico publicado en 2016

The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunit

scientific journal article

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing

artículo científico publicado en 2014

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

artículo científico publicado en 2010

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

artículo científico publicado en 2016

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.

artículo científico publicado en 2009

Lista de obras de

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

A Post-Hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

A novel Ile1455Thr variant in the skeletal muscle sodium channel alpha-subunit in a patient with a severe adult-onset proximal myopathy with electrical myotonia and a patient with mild paramyotonia phenotype

A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

Aquaporin-2: COOH terminus is necessary but not sufficient for routing to the apical membrane ⬇️

Autosomal recessive cerebellar ataxia type 3 due to ANO10 mutations: delineation and genotype-phenotype correlation study

Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2.

Cerebrospinal fluid analysis in the workup of GLUT1 deficiency syndrome: a systematic review

Child neurology: differential diagnosis of a low CSF glucose in children and young adults

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders

Clinical utility gene card for: Gitelman syndrome

Clinical, molecular, and cellular immunologic findings in patients with SP110-associated veno-occlusive disease with immunodeficiency syndrome

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders

Development of lithium-induced nephrogenic diabetes insipidus is dissociated from adenylyl cyclase activity

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement

Expression of tetraspan protein CD63 activates protein-tyrosine kinase (PTK) and enhances the PTK-induced inhibition of ROMK channels

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

LIP5 interacts with aquaporin 2 and facilitates its lysosomal degradation

Lack of arginine vasopressin-induced phosphorylation of aquaporin-2 mutant AQP2-R254L explains dominant nephrogenic diabetes insipidus

Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.

MAL decreases the internalization of the aquaporin-2 water channel

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability

Missense mutations in β-1,3-N-acetylglucosaminyltransferase 1 (B3GNT1) cause Walker-Warburg syndrome.

Missorting of the Aquaporin-2 mutant E258K to multivesicular bodies/lysosomes in dominant NDI is associated with its monoubiquitination and increased phosphorylation by PKC but is due to the loss of E258.

Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability

Movement disorders in GLUT1 deficiency syndrome respond to the modified Atkins diet ⬇️

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Mutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia.

Panel-Based Exome Sequencing for Neuromuscular Disorders as a Diagnostic Service

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

Rapidly deteriorating course in Dutch hereditary spastic paraplegia type 11 patients ⬇️

RasGRP1 stimulation enhances ubiquitination and endocytosis of the sodium-chloride cotransporter

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Repulsion between Lys258 and upstream arginines explains the missorting of the AQP2 mutant p.Glu258Lys in nephrogenic diabetes insipidus

Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway.

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Short-chain ubiquitination mediates the regulated endocytosis of the aquaporin-2 water channel

Targeted next-generation sequencing of a 12.5 Mb homozygous region reveals ANO10 mutations in patients with autosomal-recessive cerebellar ataxia

Tetraspan proteins: regulators of renal structure and function

The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene

The tetraspanin CD63 enhances the internalization of the H,K-ATPase beta-subunit

Translating sanger-based routine DNA diagnostics into generic massive parallel ion semiconductor sequencing

Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis

Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.

p.R254Q mutation in the aquaporin-2 water channel causing dominant nephrogenic diabetes insipidus is due to a lack of arginine vasopressin-induced phosphorylation.