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List of works by Nicole I Wolf

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

scientific article

4H Leukodystrophy: Lessons from 3T Imaging.

scientific article

4H leukodystrophy caused by a homozygous POLR3B mutation: Further delineation of the phenotype

scientific article published on 22 April 2020

4H leukodystrophy: Mild clinical phenotype and comorbidity with multiple sclerosis

scientific article published on 11 March 2020

A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum

scientific article

A mutation in the Tubb4a gene leads to microtubule accumulation with hypomyelination and demyelination

scientific article

A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

scientific article

A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain.

scientific article

A phase I/II study of gemcitabine during radiotherapy in children with newly diagnosed diffuse intrinsic pontine glioma

scientific article published on 26 July 2017

A post hoc study on gene panel analysis for the diagnosis of dystonia

scientific article published on 10 February 2017

A recessive ataxia diagnosis algorithm for the next generation sequencing era.

scientific article published on 23 October 2017

A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy

scientific article

AGC1 deficiency and cerebral hypomyelination

scientific article published in November 2009

ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation

Abnormal myelination in Angelman syndrome

scientific article published on 24 June 2008

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

article

Altered PLP1 splicing causes hypomyelination of early myelinating structures.

scientific article published on May 2015

Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.

scientific article

Andrea Poretti-In Memoriam

scientific article published on 6 September 2017

Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

Atypical case of Aicardi-Goutières syndrome with late-onset myoclonic status

scientific article published on June 2007

Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotype.

scientific article published in December 2008

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome

Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy

scientific article

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

scientific article

Characteristics of early MRI in children and adolescents with vanishing white matter

scientific article published in February 2012

Clinical and biochemical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

scientific article

Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants

scientific article published on 30 October 2019

Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

scientific article published on 14 April 2015

Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?

scientific article published in August 2003

Correction to: A phase I/II study of gemcitabine during radiotherapy in children with newly diagnosed diffuse intrinsic pontine glioma.

scientific article published on 23 October 2017

Current concepts of mitochondrial disorders in childhood

scientific article

DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

scientific article

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy

scientific article published on June 2003

De novo SPAST mutations may cause a complex SPG4 phenotype

scientific article published on 01 July 2019

Delta-storage pool disease in infancy with absence of blood serotonin associated with psychomotor retardation

scientific article published in July 2001

Diagnosis, prognosis, and treatment of leukodystrophies

scientific article published on 12 July 2019

Differential Diagnosis of Cerebellar Atrophy in Childhood: An Update

Differential diagnosis of cerebellar atrophy in childhood

scientific article published on 14 September 2007

Diffuse cortical necrosis in a neonate with incontinentia pigmenti and an encephalitis-like presentation.

scientific article published in June 2005

Diffuse hypomyelination is not obligate for POLR3-related disorders

scientific article published on 30 March 2016

Diffusion tensor imaging in metachromatic leukodystrophy.

scientific article published on 30 January 2018

Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes

scientific article published on 4 November 2015

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

scientific article published on 31 July 2019

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience

scientific article published on 26 April 2016

Elevated CSF N-acetylaspartylglutamate in patients with free sialic acid storage diseases

scientific article

Epilepsy and inborn errors of metabolism in children.

scientific article published on 31 July 2009

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

scientific article published on 18 March 2014

Epilepsy in inborn errors of metabolism.

scientific article

Epilepsy with central spikes provoked by fever with a benign disease course

scientific article published on 6 April 2011

Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome

scientific article

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

scientific article published on 12 March 2013

Expression of neurotrophin receptors trkB and trkC and their ligands in rat adrenal gland and the intermediolateral column of the spinal cord.

scientific article

Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome

scientific article published on 2 February 2015

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

scientific article

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy

scientific article published on 3 June 2016

Genome sequencing in persistently unsolved white matter disorders

scientific article published on 07 January 2020

Glucose transporter-1 (GLUT1) deficiency syndrome: diagnosis and treatment in late childhood

scientific article published on 23 May 2012

Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy

scientific article published on 03 October 2019

Hypomyelinating leukodystrophies: translational research progress and prospects

scientific article

Hypomyelination and congenital cataract: broadening the clinical phenotype

scientific article

Hypomyelination versus delayed myelination

scientific article published in July 2010

Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation

scientific article

Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

scientific article published on 01 June 2013

Inborn errors of metabolism and motor disturbances in children

scientific article published on October 2009

Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity

scientific article

Large exonic deletions in POLR3B gene cause POLR3-related leukodystrophy.

scientific article published on 5 June 2015

Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging

scientific article

Leukoencephalopathy with ataxia, hypodontia, and hypomyelination.

scientific article published on April 2005

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

scientific article

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy

scientific journal article

MRI as diagnostic tool in early-onset peroxisomal disorders.

scientific article published on 28 March 2012

Magnetic resonance imaging pattern recognition in hypomyelinating disorders

scientific article published on October 2010

Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

scientific article

Measuring early lesion growth in boys with cerebral demyelinating adrenoleukodystrophy

scientific article published on 22 March 2019

Mental retardation and inborn errors of metabolism.

scientific article published on 14 August 2009

Metabolic evaluation of infantile epilepsy: summary recommendations of the Amalfi Group

scientific article published on December 2002

Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction

scientific article published on 22 January 2020

Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients

scientific article published on 07 July 2020

Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

scientific article published on 16 October 2014

Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain

scientific article published on 12 September 2003

Mitochondrial HMG-CoA synthase deficiency: identification of two further patients carrying two novel mutations

scientific article published on 11 February 2003

Mitochondrial disease: a practical approach for primary care physicians.

scientific article

Mitochondrial disorders: a proposal for consensus diagnostic criteria in infants and children

scientific article published in November 2002

Mutations in DARS cause hypomyelination with brain stem and spinal cord involvement and leg spasticity.

scientific article

Mutations in RARS cause hypomyelination

scientific article (publication date: July 2014)

Mutations in RNF216 do not cause 4H syndrome

scientific article published on 04 September 2015

Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

scientific article

Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

scientific article

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

scientific journal article

N-Acetylaspartylglutamate in CNS Hypomyelination

scientific article published on 01 February 2011

NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

scientific article

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

scientific article published on 01 March 2022

New pattern of brain MRI lesions in isolated complex I deficiency.

scientific article published in June 2003

Non-motor symptoms and quality of life in dopa-responsive dystonia patients.

scientific article published on 10 October 2017

Novel (ovario) leukodystrophy related to AARS2 mutations

scientific article

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures

scientific article published in January 2012

Novel hypomyelinating leukoencephalopathy affecting early myelinating structures: clinical course in two brothers.

scientific article published on 24 January 2013

Occasional seizures, epilepsy, and inborn errors of metabolism

scientific article

Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement

scientific article published on 02 May 2019

Optimized spectrophotometric assay for the completely activated pyruvate dehydrogenase complex in fibroblasts

scientific article published on 18 November 2004

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

Outcome of severe unilateral cerebellar hypoplasia

scientific article published on 23 October 2009

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

scientific article

POLR3A variants in hereditary spastic paraplegia and ataxia

scientific article published on 8 December 2017

POLR3A variants with striatal involvement and extrapyramidal movement disorder

scientific article published on 15 January 2020

Pediatric neurocysticercosis: three cases presented in the Netherlands with divergent clinical presentations

scientific article published on 2 February 2015

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective

scientific article published on 04 November 2019

Phenotypic development of neonatal rat chromaffin cells in response to adrenal growth factors and glucocorticoids: focus on pituitary adenylate cyclase activating polypeptide

article

Phenotypic variation between siblings with Metachromatic Leukodystrophy.

scientific article published on 11 June 2019

Progressive cerebellar atrophy: hereditary ataxias and disorders with spinocerebellar degeneration

scientific article published on January 2013

Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy.

scientific article published on 23 December 2006

Pyridoxine responsiveness in novel mutations of the PNPO gene

scientific article published on 21 March 2014

Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment

scientific article published on 9 September 2017

Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap

scientific article published on 20 July 2016

RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum

scientific article published on 08 December 2019

RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?

scientific article

Rare dental peculiarities associated with the hypomyelinating leukoencephalopathy 4H syndrome/ADDH.

scientific article published in September 2010

Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain

scientific article published on 01 March 2020

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

scientific article published on 7 July 2015

Recessive mutations in the gene encoding the tight junction protein occludin cause band-like calcification with simplified gyration and polymicrogyria

scientific article

Reply: A novel TUBB4A mutation suggests that genotype-phenotype correlation of H-ABC syndrome needs to be revisited

scientific article published on 24 January 2015

Reply: TUBB4A novel mutation reinforces the genotype-phenotype correlation of hypomyelination with atrophy of the basal ganglia and cerebellum

scientific article

Reply: The recurrent mutation in TMEM106B also causes hypomyelinating leukodystrophy in China and is a CpG hotspot

scientific article published on 12 February 2018

Retrospective evaluation of low long-term efficacy of antiepileptic drugs and ketogenic diet in 39 patients with CDKL5-related epilepsy

scientific article

Revised consensus statement on the preventive and symptomatic care of patients with leukodystrophies

scientific article published on 20 August 2017

SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome.

scientific article published on 6 September 2016

Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency.

scientific article published in January 2004

Segmentation of intrinsically very low contrast magnetic resonance brain images using tensor-based DTI registration

scientific article published in 2022

Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.

scientific article

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy

scientific article published in February 2018

Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features

scientific article published on 19 November 2008

TGF-beta rescues target-deprived preganglionic sympathetic neurons in the spinal cord

scientific article

TUBB4A mutations result in specific neuronal and oligodendrocytic defects that closely match clinically distinct phenotypes

scientific article

The in-depth evaluation of suspected mitochondrial disease

scientific article

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease

scientific article published on 2 February 2005

Transforming growth factor-β, but not ciliary neurotrophic factor, inhibits DNA synthesis of adrenal medullary cells in vitro

article by Nicole I Wolf et al published February 1999 in Neuroscience

Treatable neonatal epilepsy

scientific article published on August 2007

TrkB and neurotrophin-4 are important for development and maintenance of sympathetic preganglionic neurons innervating the adrenal medulla.

scientific article published in September 1998

Trophic factors made by adrenal chromaffin cells and their putative clinical implications

scientific article published on 01 January 1995

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC.

scientific article

Update on Leukodystrophies: A Historical Perspective and Adapted Definition

scientific article

Variants in NGLY1 lead to intellectual disability, myoclonus epilepsy, sensorimotor axonal polyneuropathy and mitochondrial dysfunction

scientific article published on 30 January 2020

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy

scientific article

Whole exome sequencing in patients with white matter abnormalities.

scientific article published on 09 May 2016

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

scientific article published on 26 August 2017

[Growing skull fracture]

scientific article published on 01 January 2011

[Torticollis and seizures due to neuroborreliosis in a child]

scientific article published on 01 January 2012

“Pelizaeus–Merzbacher-like disease” presenting as complicated hereditary spastic paraplegia

scientific article published on 26 July 2012

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