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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding

Annals of neurology, 2020-01, Vol.87 (1), p.10-11

2020

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Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

Journal of inherited metabolic disease, 2024-05, Vol.47 (3), p.417-430

2024

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Classic ataxia-telangiectasia: the phenotype of long-term survivors

Journal of neurology, 2020-03, Vol.267 (3), p.830-837

2020

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Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Genome medicine, 2022-06, Vol.14 (1), p.1-66, Article 66

2022

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Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Journal of medical genetics, 2012-03, Vol.49 (3), p.179-183

2012

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Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1112-1120

2020

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Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

Journal of inherited metabolic disease, 2023-01, Vol.46 (1), p.66-75

2023

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Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

American journal of human genetics, 2012-12, Vol.91 (6), p.1122-1127

2012

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Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia

Frontiers in immunology, 2019-11, Vol.10, p.2438-2438

2019

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Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial

Occupational therapy international, 2023, Vol.2023, p.8128407-12

2023

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Sjögren–Larsson syndrome in clinical practice

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.955-962

2012

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Diagnosing Inborn Errors of Lipid Metabolism with Proton Nuclear Magnetic Resonance Spectroscopy

Clinical chemistry (Baltimore, Md.), 2006-07, Vol.52 (7), p.1395-1405

2006

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Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Nature medicine, 2006-03, Vol.12 (3), p.307-309

2006

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Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

Journal of medical genetics, 2019-05, Vol.56 (5), p.308-316

2019

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Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1265-1278

2020

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Childhood white matter disorders: quantitative MR imaging and spectroscopy

Radiology, 2006-11, Vol.241 (2), p.510-517

2006

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Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

Journal of neurology, neurosurgery and psychiatry, 2018-06, Vol.89 (6), p.668-670

2018

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Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study

The lancet oncology, 2012-03, Vol.13 (3), p.256-264

2012

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Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren‐Larsson syndrome

Acta ophthalmologica (Oxford, England), 2016-11, Vol.94 (7), p.e663-e664

2016

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A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

Genetics in medicine, 2017-09, Vol.19 (9), p.1055-1063

2017

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A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

JIMD reports, 2019-11, Vol.50 (1), p.31-39

2019

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The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

Cellular and molecular life sciences : CMLS, 2022-06, Vol.79 (6), p.305-305, Article 305

2022

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Nocturnal apnea in Chiari type I malformation

European journal of pediatrics, 2011-10, Vol.170 (10), p.1349-1352

2011

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Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice

PloS one, 2012-08, Vol.7 (8), p.e42745-e42745

2012

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Lactate infusion as therapeutical intervention: a scoping review

European journal of pediatrics, 2022-06, Vol.181 (6), p.2227-2235

2022

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Hypointensity of the Basal Ganglia in Adults with Glucose Transporter Protein Type 1 Deficiency Syndrome: A Novel Magnetic Resonance Imaging Finding

Succinic semialdehyde dehydrogenase deficiency in mice and in humans: An untargeted metabolomics perspective

Classic ataxia-telangiectasia: the phenotype of long-term survivors

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

Confirmation of neurometabolic diagnoses using age‐dependent cerebrospinal fluid metabolomic profiles

Novel cerebrospinal fluid biomarkers of glucose transporter type 1 deficiency syndrome: Implications beyond the brain's energy deficit

Recurrent De Novo Mutations in PACS1 Cause Defective Cranial-Neural-Crest Migration and Define a Recognizable Intellectual-Disability Syndrome

Dilemma of Reporting Incidental Findings in Newborn Screening Programs for SCID: Parents' Perspective on Ataxia Telangiectasia

Multisensory Stimulation and Priming (MuSSAP) in 4-10 Months Old Infants with a Unilateral Brain Lesion: A Pilot Randomised Clinical Trial

Sjögren–Larsson syndrome in clinical practice

Diagnosing Inborn Errors of Lipid Metabolism with Proton Nuclear Magnetic Resonance Spectroscopy

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations

Disturbed brain ether lipid metabolism and histology in Sjögren‐Larsson syndrome

Childhood white matter disorders: quantitative MR imaging and spectroscopy

Stroke mimics add to the phenotypic spectrum of GLUT1 deficiency syndrome

Long-term cognitive and cardiac outcomes after prenatal exposure to chemotherapy in children aged 18 months or older: an observational study

Macular fibrosis complicating macular pigment deficient maculopathy in Sjögren‐Larsson syndrome

A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology

A mutation in mannose‐phosphate‐dolichol utilization defect 1 reveals clinical symptoms of congenital disorders of glycosylation type I and dystroglycanopathy

The novel P330L pathogenic variant of aromatic amino acid decarboxylase maps on the catalytic flexible loop underlying its crucial role

Nocturnal apnea in Chiari type I malformation

Cerebrospinal fluid glucose and lactate: age-specific reference values and implications for clinical practice

Lactate infusion as therapeutical intervention: a scoping review

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