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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Brain (London, England : 1878), 2019-06, Vol.142 (6), p.1561-1572

2019

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Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

Scientific reports, 2022-12, Vol.12 (1), p.22075-22075, Article 22075

2022

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In-vivo evidence that high mobility group box 1 exerts deleterious effects in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model and Parkinson's disease which can be attenuated by glycyrrhizin

Neurobiology of disease, 2016-07, Vol.91, p.59-68

2016

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Amantadine for NeuroenhaNcement in acutE patients Study - a protocol for a prospective pilot proof of concept phase IIb study in intensive and intermediate care unit patients (ANNES)

BMC neurology, 2023-08, Vol.23 (1), p.1-308, Article 308

2023

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Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis

Scientific reports, 2024-03, Vol.14 (1), p.7335-7335, Article 7335

2024

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GDF15/MIC1 and MMP9 Cerebrospinal Fluid Levels in Parkinson's Disease and Lewy Body Dementia

PloS one, 2016-03, Vol.11 (3), p.e0149349-e0149349

2016

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Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia

Journal of neuroengineering and rehabilitation, 2023-07, Vol.20 (1), p.90-90, Article 90

2023

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Cerebrospinal fluid findings in patients with psychotic symptoms—a retrospective analysis

Scientific reports, 2021-03, Vol.11 (1), p.7169-12, Article 7169

2021

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Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.194-194, Article 194

2018

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Chromium and cobalt intoxication mimicking mitochondriopathy

Neurological research and practice, 2021-07, Vol.3 (1), p.40-40, Article 40

2021

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Detection of spinal long fiber tract degeneration in HSP: Improved diffusion tensor imaging

NeuroImage clinical, 2022-01, Vol.36, p.103213-103213, Article 103213

2022

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Peripheral nerve ultrasound scoring systems: benchmarking and comparative analysis

Journal of neurology, 2017-02, Vol.264 (2), p.243-253

2017

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Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

Annals of clinical and translational neurology, 2021-05, Vol.8 (5), p.1122-1131

2021

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Serum neurofilament light chain is increased in hereditary spastic paraplegias

Annals of clinical and translational neurology, 2018-07, Vol.5 (7), p.876-882

2018

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Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Annals of clinical and translational neurology, 2022-03, Vol.9 (3), p.326-338

2022

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Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)

Stem cell research, 2016-09, Vol.17 (2), p.437-440

2016

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A look inside the nerve – Morphology of nerve fascicles in healthy controls and patients with polyneuropathy

Clinical neurophysiology, 2017-12, Vol.128 (12), p.2521-2526

2017

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What's behind cerebellar dizziness? - News on diagnosis and therapy

Laryngo- rhino- otologie, 2024-05, Vol.103 (5), p.337

2024

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Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Molecular genetics & genomic medicine, 2017-05, Vol.5 (3), p.280-286

2017

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Face pareidolia in schizophrenia

Schizophrenia research, 2020-04, Vol.218, p.138-145

2020

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The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study

Brain (London, England : 1878), 2023-03, Vol.146 (3), p.1093-1102

2023

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“Ears of the lynx” sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers

Journal of neurology, 2022-11, Vol.269 (11), p.6148-6151

2022

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Total tau is increased, but phosphorylated tau not decreased, in cerebrospinal fluid in amyotrophic lateral sclerosis

Neurobiology of aging, 2015-02, Vol.36 (2), p.1072-1074

2015

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Nerve Ultrasound Predicts Treatment Response in Chronic Inflammatory Demyelinating Polyradiculoneuropathy—a Prospective Follow-Up

Neurotherapeutics, 2018-04, Vol.15 (2), p.439-451

2018

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Rapidly evolving cerebral edema and hyperperfusion in a patient with dural arteriovenous fistula

Acta neurologica Belgica, 2023-04, Vol.123 (2), p.683-685

2023

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FAHN/SPG35: a narrow phenotypic spectrum across disease classifications

Proof of principle for the clinical use of a CE-certified automatic imaging analysis tool in rare diseases studying hereditary spastic paraplegia type 4 (SPG4)

In-vivo evidence that high mobility group box 1 exerts deleterious effects in the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine model and Parkinson's disease which can be attenuated by glycyrrhizin

Amantadine for NeuroenhaNcement in acutE patients Study - a protocol for a prospective pilot proof of concept phase IIb study in intensive and intermediate care unit patients (ANNES)

Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis

GDF15/MIC1 and MMP9 Cerebrospinal Fluid Levels in Parkinson's Disease and Lewy Body Dementia

Dysfunctional neuro-muscular mechanisms explain gradual gait changes in prodromal spastic paraplegia

Cerebrospinal fluid findings in patients with psychotic symptoms—a retrospective analysis

Nerve ultrasound characterizes AMN polyneuropathy as inhomogeneous and focal hypertrophic

Chromium and cobalt intoxication mimicking mitochondriopathy

Detection of spinal long fiber tract degeneration in HSP: Improved diffusion tensor imaging

Peripheral nerve ultrasound scoring systems: benchmarking and comparative analysis

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia

Serum neurofilament light chain is increased in hereditary spastic paraplegias

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4

Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5)

A look inside the nerve – Morphology of nerve fascicles in healthy controls and patients with polyneuropathy

What's behind cerebellar dizziness? - News on diagnosis and therapy

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

Face pareidolia in schizophrenia

The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study

“Ears of the lynx” sign and thin corpus callosum on MRI in heterozygous SPG11 mutation carriers

Total tau is increased, but phosphorylated tau not decreased, in cerebrospinal fluid in amyotrophic lateral sclerosis

Nerve Ultrasound Predicts Treatment Response in Chronic Inflammatory Demyelinating Polyradiculoneuropathy—a Prospective Follow-Up

Rapidly evolving cerebral edema and hyperperfusion in a patient with dural arteriovenous fistula

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