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Folate receptor α deficiency – Myelin‐sensitive MRI as a reliable biomarker to monitor the efficacy and long‐term outcome of a new therapeutic approach

Journal of inherited metabolic disease, 2024-03, Vol.47 (2), p.387-403

2024

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Neurofluids—Deep inspiration, cilia and preloading of the astrocytic network

Journal of neuroscience research, 2021-11, Vol.99 (11), p.2804-2821

2021

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Hypomyelinating leukodystrophies: Translational research progress and prospects

Annals of neurology, 2014-07, Vol.76 (1), p.5-19

2014

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Deep breathing couples CSF and venous flow dynamics

Scientific reports, 2022-02, Vol.12 (1), p.2568-2568, Article 2568

2022

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Inspiration is the major regulator of human CSF flow

The Journal of neuroscience, 2015-02, Vol.35 (6), p.2485-2491

2015

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Respiration and the watershed of spinal CSF flow in humans

Scientific reports, 2018-04, Vol.8 (1), p.5594-7, Article 5594

2018

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Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Nature communications, 2017-10, Vol.8 (1), p.818-10, Article 818

2017

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Assessment of myelination in hypomyelinating disorders by quantitative MRI

Journal of magnetic resonance imaging, 2012-12, Vol.36 (6), p.1329-1338

2012

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Spinal CSF flow in response to forced thoracic and abdominal respiration

Fluids and barriers of the CNS, 2019-04, Vol.16 (1), p.10-10, Article 10

2019

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Atlas-based assessment of hypomyelination: Quantitative MRI in Pelizaeus-Merzbacher disease

Human brain mapping, 2024-09, Vol.45 (13), p.e70014

2024

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Assessment of myelination in hypomyelinating disorders by quantitative MRI

Journal of magnetic resonance imaging, 2012-12, Vol.36 (6), p.spcone-spcone

2012

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Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101053-101053, Article 101053

2024

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Pediatric onset multiple sclerosis: McDonald criteria 2010 and the contribution of spinal cord MRI

Multiple sclerosis, 2013-09, Vol.19 (10), p.1330-1335

2013

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Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

BMC neurology, 2016-05, Vol.16 (75), p.74-74, Article 74

2016

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Upward movement of cerebrospinal fluid in obstructive hydrocephalus—revision of an old concept

Child's nervous system, 2019-05, Vol.35 (5), p.833-841

2019

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Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Genetics in medicine, 2021-02, Vol.23 (2), p.341-351

2021

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Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

Frontiers in cell and developmental biology, 2022-11, Vol.10

2022

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Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI

Neuroradiology, 2006-12, Vol.48 (12), p.893-898

2006

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Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo’s concentric sclerosis

Neuroradiology, 2009-02, Vol.51 (2), p.113-121

2009

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Proton magnetic resonance spectroscopy of brain metabolites in galactosemia

Annals of neurology, 2001-08, Vol.50 (2), p.266-269

2001

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Identification of the Upward Movement of Human CSF In Vivo and its Relation to the Brain Venous System

The Journal of neuroscience, 2017-03, Vol.37 (9), p.2395-2402

2017

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Paediatric pineal region cysts: enigma or impaired neurofluid system?

Child's nervous system, 2023-12, Vol.39 (12), p.3457-3466

2023

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Breathing drives CSF: Impact on spaceflight disease and hydrocephalus

Proceedings of the National Academy of Sciences - PNAS, 2019-10, Vol.116 (41), p.20263-20264

2019

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Early Reduction of Total N-Acetyl-Aspartate-Compounds in Patients With Classical Vanishing White Matter Disease. A Long-Term Follow-Up MRS Study

Pediatric research, 2008-04, Vol.63 (4), p.444-449

2008

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Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes

Human genetics, 2024-02, Vol.143 (2), p.159-168

2024

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Folate receptor α deficiency – Myelin‐sensitive MRI as a reliable biomarker to monitor the efficacy and long‐term outcome of a new therapeutic approach

Neurofluids—Deep inspiration, cilia and preloading of the astrocytic network

Hypomyelinating leukodystrophies: Translational research progress and prospects

Deep breathing couples CSF and venous flow dynamics

Inspiration is the major regulator of human CSF flow

Respiration and the watershed of spinal CSF flow in humans

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

Assessment of myelination in hypomyelinating disorders by quantitative MRI

Spinal CSF flow in response to forced thoracic and abdominal respiration

Atlas-based assessment of hypomyelination: Quantitative MRI in Pelizaeus-Merzbacher disease

Assessment of myelination in hypomyelinating disorders by quantitative MRI

Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

Pediatric onset multiple sclerosis: McDonald criteria 2010 and the contribution of spinal cord MRI

Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review

Upward movement of cerebrospinal fluid in obstructive hydrocephalus—revision of an old concept

Heterozygous truncating variants in SUFU cause congenital ocular motor apraxia

Somatic mosaicism in STAG2-associated cohesinopathies: Expansion of the genotypic and phenotypic spectrum

Cerebral metabolic and structural alterations in hereditary spastic paraplegia with thin corpus callosum assessed by MRS and DTI

Serial proton MR spectroscopy and diffusion tensor imaging in infantile Balo’s concentric sclerosis

Proton magnetic resonance spectroscopy of brain metabolites in galactosemia

Identification of the Upward Movement of Human CSF In Vivo and its Relation to the Brain Venous System

Paediatric pineal region cysts: enigma or impaired neurofluid system?

Breathing drives CSF: Impact on spaceflight disease and hydrocephalus

Early Reduction of Total N-Acetyl-Aspartate-Compounds in Patients With Classical Vanishing White Matter Disease. A Long-Term Follow-Up MRS Study

Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes

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