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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Human molecular genetics, 2013-07, Vol.22 (13), p.2590-2602

2013

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Event rate and event-related potentials in ADHD

Journal of child psychology and psychiatry, 2006-06, Vol.47 (6), p.560-567

2006

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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Journal of medical genetics, 2015-08, Vol.52 (8), p.532-540

2015

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Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise

European journal of applied physiology, 2012-06, Vol.112 (6), p.2369-2374

2012

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Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

Clinical infectious diseases, 2006-04, Vol.42 (8), p.1111-1117

2006

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Characteristics, Early Development and Outcome of Parent-Reported Regression in Autism Spectrum Disorder

Journal of autism and developmental disorders, 2019-11, Vol.49 (11), p.4603-4625

2019

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Expanding the Spectrum of MERS Type 2 Lesions, a Particular Form of Encephalitis

Pediatric neurology, 2013-02, Vol.48 (2), p.135-138

2013

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Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients

Neuromuscular disorders : NMD, 2012-08, Vol.22 (8), p.699-711

2012

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Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression

PloS one, 2022-09, Vol.17 (9), p.e0274310-e0274310

2022

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Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression

PloS one, 2022-09, Vol.17 (9), p.e0274310

2022

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Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Clinical genetics, 2021-03, Vol.99 (3), p.449-456

2021

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RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

European journal of neurology, 2022-07, Vol.29 (7), p.2156-2161

2022

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A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

American journal of human genetics, 2013-05, Vol.92 (5), p.767-773

2013

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The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Oncogene, 2022-01, Vol.41 (1), p.15-25

2022

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Steroids in intractable childhood epilepsy: Clinical experience and review of the literature

Seizure (London, England), 2005-09, Vol.14 (6), p.412-421

2005

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Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q

Anesthesiology (Philadelphia), 2015-02, Vol.122 (2), p.343-352

2015

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A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders

Nutrients, 2017-09, Vol.9 (9), p.1017

2017

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High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

Human molecular genetics, 2022-03, Vol.31 (5), p.748-760

2022

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POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

Annals of clinical and translational neurology, 2017-01, Vol.4 (1), p.4-14

2017

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Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

EMBO molecular medicine, 2009-05, Vol.1 (2), p.99-111

2009

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Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain

Muscle & nerve, 2020-02, Vol.61 (2), p.173-181

2020

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Hashimoto encephalopathy and antibodies against dimethylargininase-1: A rare cause of cognitive decline in a pediatric Down's syndrome patient

Clinical neurology and neurosurgery, 2011-10, Vol.113 (8), p.678-679

2011

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Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Oncogene, 2022-01, Vol.41 (1), p.146-146

2022

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Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Clinical genetics, 2020-03, Vol.97 (3), p.426-436

2020

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

Journal of inherited metabolic disease, 2015-11, Vol.38 (6), p.1147-1153

2015

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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy

Event rate and event-related potentials in ADHD

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Reliability of near infrared spectroscopy (NIRS) for measuring forearm oxygenation during incremental handgrip exercise

Linezolid-Induced Inhibition of Mitochondrial Protein Synthesis

Characteristics, Early Development and Outcome of Parent-Reported Regression in Autism Spectrum Disorder

Expanding the Spectrum of MERS Type 2 Lesions, a Particular Form of Encephalitis

Mutant HSPB8 causes protein aggregates and a reduced mitochondrial membrane potential in dermal fibroblasts from distal hereditary motor neuropathy patients

Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression

Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression

Phenotypic spectrum of the RBM10‐mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia

A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Steroids in intractable childhood epilepsy: Clinical experience and review of the literature

Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q

A Critical Assessment of the Therapeutic Potential of Resveratrol Supplements for Treating Mitochondrial Disorders

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

Parkinson's disease mutations in PINK1 result in decreased Complex I activity and deficient synaptic function

Diagnostic utility of small fiber analysis in skin biopsies from children with chronic pain

Hashimoto encephalopathy and antibodies against dimethylargininase-1: A rare cause of cognitive decline in a pediatric Down's syndrome patient

Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Mutation of the iron-sulfur cluster assembly gene IBA57 causes fatal infantile leukodystrophy

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