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Palliative care in 9 children with neurodegeneration with brain iron accumulation

Neurological sciences, 2020-03, Vol.41 (3), p.653-660

2020

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Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Annals of neurology, 2020-11, Vol.88 (5), p.867-877

2020

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Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

European journal of paediatric neurology, 2011-09, Vol.15 (5), p.424-431

2011

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Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro

Pharmaceutics, 2023-01, Vol.15 (1), p.267

2023

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Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

Diagnostics (Basel), 2021-02, Vol.11 (2), p.320

2021

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Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex

Epilepsia (Copenhagen), 2011-01, Vol.52 (1), p.22-27

2011

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A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

Human molecular genetics, 2023-03, Vol.32 (7), p.1152-1161

2023

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Deep brain stimulation hardware-related complications and their management: A single-center retrospective analysis of 65 patients with various dystonic conditions

Journal of the neurological sciences, 2019-12, Vol.407, p.116513-116513, Article 116513

2019

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Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

Metabolic brain disease, 2023-02, Vol.38 (2), p.709-715

2023

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Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

European journal of paediatric neurology, 2013-09, Vol.17 (5), p.479-485

2013

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Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia

Movement disorders, 2014-02, Vol.29 (2), p.188-189

2014

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Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus–Merzbacher phenotype

Brain & development (Tokyo. 1979), 2013-10, Vol.35 (9), p.877-880

2013

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Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy

Gene, 2013-09, Vol.526 (2), p.176-181

2013

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Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12

Parkinsonism & related disorders, 2017-06, Vol.39, p.71-76

2017

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Long-term outcomes of bilateral pallidal stimulation for primary generalised dystonia

Clinical neurology and neurosurgery, 2014-11, Vol.126, p.82-87

2014

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Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells

European journal of paediatric neurology, 2014-03, Vol.18 (2), p.183-192

2014

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Mitochondrial protein associated neurodegeneration – Case report

Neurologia i neurochirurgia polska, 2014-01, Vol.48 (1), p.81-84

2014

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Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions

PloS one, 2015-06, Vol.10 (6), p.e0129656-e0129656

2015

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MRI of a family with leukoencephalypathy with vanishing white matter

Pediatric radiology, 2005-10, Vol.35 (10), p.1027-1030

2005

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Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

European journal of paediatric neurology, 2008-09, Vol.12 (5), p.427-430

2008

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Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN)

Journal of the neurological sciences, 2016-11, Vol.370, p.237-240

2016

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Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration

Brain (London, England : 1878), 2024-04, Vol.147 (4), p.1389-1398

2024

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Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

American journal of human genetics, 2011-10, Vol.89 (4), p.543-550

2011

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Palliative care in 9 children with neurodegeneration with brain iron accumulation

Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro

Elevated Dipeptidyl Peptidase IV (DPP-IV) Activity in Plasma from Patients with Various Lysosomal Diseases

Cerebral tuber count and its impact on mental outcome of patients with tuberous sclerosis complex

A novel de novo FEM1C variant is linked to neurodevelopmental disorder with absent speech, pyramidal signs and limb ataxia

Deep brain stimulation hardware-related complications and their management: A single-center retrospective analysis of 65 patients with various dystonic conditions

Deterioration of visual quality and acuity as the first sign of ceroid lipofuscinosis type 3 (CLN3), a rare neurometabolic disease

Long-term effect of everolimus on epilepsy and growth in children under 3 years of age treated for subependymal giant cell astrocytoma associated with tuberous sclerosis complex

Status dystonicus due to internal pulse generator depletion in a patient with primary generalized dystonia

Mutations in the PLP1 gene residue p. Gly198 as the molecular basis of Pelizeaus–Merzbacher phenotype

Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12

Long-term outcomes of bilateral pallidal stimulation for primary generalised dystonia

Severe phenotypes of SMARD1 associated with novel mutations of the IGHMBP2 gene and nuclear degeneration of muscle and Schwann cells

Mitochondrial protein associated neurodegeneration – Case report

Screening for THAP1 Mutations in Polish Patients with Dystonia Shows Known and Novel Substitutions

MRI of a family with leukoencephalypathy with vanishing white matter

Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation

Retinal and optic nerve abnormalities in neurodegeneration associated with mutations in C19orf12 (MPAN)

Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration

Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation

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