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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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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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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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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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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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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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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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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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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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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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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

2019

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Childhood white matter disorders: quantitative MR imaging and spectroscopy

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

2006

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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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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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Nocturnal apnea in Chiari type I malformation

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

2011

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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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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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Predicting non‐response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities

Developmental medicine and child neurology, 2024-07, Vol.66 (7), p.919-930

2024

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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

Mutations in DYNC1H1 cause severe intellectual disability with neuronal migration defects

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

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

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

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

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

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

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

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

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

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

Childhood white matter disorders: quantitative MR imaging and spectroscopy

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

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

Nocturnal apnea in Chiari type I malformation

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

Lactate infusion as therapeutical intervention: a scoping review

Predicting non‐response to intraglandular botulinum neurotoxin A injections for drooling in children with neurodevelopmental disabilities

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