Lista de obras -

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios

artículo científico publicado en 2017

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature

artículo científico publicado en 2010

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

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations

artículo científico publicado en 2005

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

artículo científico publicado en 2017

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

artículo científico publicado en 2017

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis

artículo científico publicado en 2017

Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment

artículo científico publicado en 2020

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

artículo científico publicado en 2013

Clinical phenotype of 5 females with a CDKL5 mutation.

artículo científico publicado en 2011

Extremely Painful Multifocal Acquired Predominant Axonal Sensorimotor Neuropathy of the Upper Limb

artículo científico publicado en 2017

Five men with arresting and relapsing cerebral adrenoleukodystrophy

scientific article published on 29 September 2020

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

Gastro-enteritis in hypokalemic periodic paralysis: a life threatening condition

artículo científico publicado en 2012

Glutamic acid decarboxylase antibodies in Satoyoshi syndrome

artículo científico publicado en 2004

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

artículo científico publicado en 2014

Hepatitis E: A breathtaking virus

artículo científico publicado en 2019

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

artículo científico publicado en 2015

Hiccups, nausea, and vomiting: water channels under attack!

artículo científico publicado en 2010

Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding

scientific article published on 21 November 2019

Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study

scientific article published on 01 November 2006

It is in his eyes.

artículo científico publicado en 2015

Leigh syndrome caused by mutations in is associated with a better prognosis

article

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

artículo científico publicado en 2018

Movement disorders in cerebrotendinous xanthomatosis

artículo científico publicado en 2018

Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease

artículo científico publicado en 2014

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

artículo científico publicado en 2012

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

artículo científico publicado en 2013

Negative Myoclonus Induced by Ciprofloxacin

artículo científico publicado en 2017

Nonmuscular involvement in merosin-negative congenital muscular dystrophy

artículo científico publicado en 2002

Novel mutations in three patients with LGMD2C with phenotypic differences

artículo científico publicado en 2004

Pulsatile Proptosis due to Intraorbital Meningocele

artículo científico publicado en 2017

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

artículo científico publicado en 2013

Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2

artículo científico publicado en 2018

Reply: To PMID 24817269

scientific article published on 16 January 2015

Scoliosis surgery in a patient with "de novo" myosin storage myopathy.

artículo científico publicado en 2011

Severe tacrolimus leukoencephalopathy after liver transplantation.

artículo científico publicado en 2003

Skeletal muscle ultrasonography: Visual versus quantitative evaluation.

artículo científico publicado en 2006

Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity

artículo científico publicado en 2008

Teaching Video NeuroImages: Nine syndrome in inferior paramedian pontine infarction: More than meets the eye.

artículo científico publicado en 2017

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

artículo científico publicado en 2006

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

scientific article published on 20 December 2019

The value of routine creatine kinase and thyroid stimulating hormone testing in patients with suspected fibromyalgia: a cross-sectional study

artículo científico publicado en 2016

Transient Tournay's pupillary phenomenon in a patient with a vertebrobasilar TIA

artículo científico publicado en 2012

Transient cortical blindness following vincristine therapy ⬇️

artículo científico publicado el 1 de noviembre de 2003

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

article

Ultrasound of the cervical roots and brachial plexus in neonates.

artículo científico publicado en 2014

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

artículo científico publicado en 2005

[The right medicine for cerebrotendinous xanthomatosis].

artículo científico publicado en 2009

Lista de obras de

A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratios

A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature

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

A unique case of PHACES syndrome confirming the assumption that PHACES syndrome and the sternal malformation-vascular dysplasia association are part of the same spectrum of malformations

ALG13-CDG with Infantile Spasms in a Male Patient Due to a De Novo ALG13 Gene Mutation

Autism spectrum disorder: an early and frequent feature in cerebrotendinous xanthomatosis.

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis

Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment

Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in The Netherlands

Clinical phenotype of 5 females with a CDKL5 mutation.

Extremely Painful Multifocal Acquired Predominant Axonal Sensorimotor Neuropathy of the Upper Limb

Five men with arresting and relapsing cerebral adrenoleukodystrophy

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Gastro-enteritis in hypokalemic periodic paralysis: a life threatening condition

Glutamic acid decarboxylase antibodies in Satoyoshi syndrome

Hematopoietic cell transplantation does not prevent myelopathy in X-linked adrenoleukodystrophy: a retrospective study

Hepatitis E: A breathtaking virus

Hepatotoxicity due to chenodeoxycholic acid supplementation in an infant with cerebrotendinous xanthomatosis: implications for treatment.

Hiccups, nausea, and vomiting: water channels under attack!

Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding

Involuntary painful muscle contractions in Satoyoshi syndrome: a surface electromyographic study

It is in his eyes.

Leigh syndrome caused by mutations in is associated with a better prognosis

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start

Movement disorders in cerebrotendinous xanthomatosis

Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease

Muscle-specific kinase myasthenia gravis IgG4 autoantibodies cause severe neuromuscular junction dysfunction in mice

Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy

Negative Myoclonus Induced by Ciprofloxacin

Nonmuscular involvement in merosin-negative congenital muscular dystrophy

Novel mutations in three patients with LGMD2C with phenotypic differences

Pulsatile Proptosis due to Intraorbital Meningocele

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

Qualitative and Quantitative Aspects of Pain in Patients With Myotonic Dystrophy Type 2

Reply: To PMID 24817269

Scoliosis surgery in a patient with "de novo" myosin storage myopathy.

Severe tacrolimus leukoencephalopathy after liver transplantation.

Skeletal muscle ultrasonography: Visual versus quantitative evaluation.

Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity

Teaching Video NeuroImages: Nine syndrome in inferior paramedian pontine infarction: More than meets the eye.

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

The value of routine creatine kinase and thyroid stimulating hormone testing in patients with suspected fibromyalgia: a cross-sectional study

Transient Tournay's pupillary phenomenon in a patient with a vertebrobasilar TIA

Transient cortical blindness following vincristine therapy ⬇️

Type IX collagen gene mutations can result in multiple epiphyseal dysplasia that is associated with osteochondritis dissecans and a mild myopathy

Ultrasound of the cervical roots and brachial plexus in neonates.

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.

[The right medicine for cerebrotendinous xanthomatosis].