Search filters

List of works by Aad Verrips

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

scientific article published on 17 March 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

scientific article

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

scientific article

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

scientific article published on 9 September 2017

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

scientific article published on 11 September 2017

Cerebellar Disease Mimicking Cerebrotendinous Xanthomatosis: Langerhans Cell Histiocytosis

scientific article published on 18 April 2017

Cerebrotendinous xanthomatosis-associated diarrhea and response to chenodeoxycholic acid treatment

scientific article published on 30 August 2020

Clinical Phenotype of 5 Females With a CDKL5 Mutation ⬇️

scientific article published on July 15, 2011

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

scientific article published on 06 April 2013

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

scientific article

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

scientific article published on September 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

scientific article published on 26 November 2014

Gastro-enteritis in hypokalemic periodic paralysis: A life threatening condition ⬇️

scientific article published on 05 February 2012

Glutamic acid decarboxylase antibodies in Satoyoshi syndrome

scientific article (publication date: March 2004)

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

scientific article published on 9 December 2014

Hepatitis E: A breathtaking virus

scientific article published on 01 October 2019

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

scientific article

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

scientific article published in March 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

scientific article published on 22 May 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

scientific article published on 07 December 2018

Movement disorders in cerebrotendinous xanthomatosis

scientific article published on 19 July 2018

Multiple epiphyseal dysplasia: skeletal dysplasia presenting as neuromuscular disease

scientific article published in January 2014

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

scientific article published on 6 March 2012

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

scientific article published on 9 May 2013

Negative Myoclonus Induced by Ciprofloxacin

scientific article published on 6 September 2017

Nonmuscular involvement in merosin-negative congenital muscular dystrophy

scientific article published on 01 January 2002

Novel mutations in three patients with LGMD2C with phenotypic differences

scientific article

Pulsatile Proptosis due to Intraorbital Meningocele

scientific article published on 19 June 2017

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

scientific article published on 2 March 2013

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

scientific article published on 27 March 2018

Reply: To PMID 24817269

scientific article published on 16 January 2015

Scoliosis surgery in a patient with “de novo” myosin storage myopathy ⬇️

scientific article published on June 30, 2011

Severe tacrolimus leukoencephalopathy after liver transplantation.

scientific article published in November 2003

Skeletal muscle ultrasonography: Visual versus quantitative evaluation

scientific article

Skeletal muscle ultrasound: correlation between fibrous tissue and echo intensity

scientific article published on 10 December 2008

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

scientific article

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

scientific article published on May 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

scientific article published on 30 March 2016

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

scientific article published on April 17, 2012

Transient cortical blindness following vincristine therapy ⬇️

scientific article published on November 1, 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

scientific article published on 17 June 2014

Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype

scientific article published in December 2005

[The right medicine for cerebrotendinous xanthomatosis].

scientific article

Paulina is supported by:

About Paulina

Help