| 36873250 | Corrigendum to "A new pathogenic POLG variant" [Molecular Genetics and Metabolism Reports 32 (2022) 100890]. | Mol Genet Metab Rep | 2023 |
| 37638552 | Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial. | Ann Neurol | 2023 |
| 37273694 | Establishing a pediatric acute stroke protocol: experience of a new pediatric stroke program and predictors of acute stroke. | Front Neurol | 2023 |
| 37268435 | Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial. | Neurology | 2023 |
| 35146903 | NEXMIF pathogenic variants in individuals of Korean, Vietnamese, and Mexican descent. | Am J Med Genet A | 2022 |
| 35441706 | A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome. | Epilepsia | 2022 |
| 35675510 | Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis. | Brain | 2022 |
| 35860755 | A new pathogenic POLG variant. | Mol Genet Metab Rep | 2022 |
| 36636586 | Use of Elamipretide in patients assigned treatment in the compassionate use program: Case series in pediatric patients with rare orphan diseases. | JIMD Rep | 2022 |
| 35940368 | Validation of the Index for Facial Angiofibromas: A new scoring tool to assess facial angiofibromas in the tuberous sclerosis complex. | J Am Acad Dermatol | 2022 |
| 33811133 | Adult phenotype of <i>KCNQ2</i> encephalopathy. | J Med Genet | 2022 |
| 35148383 | DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome. | Brain | 2022 |
| 32518176 | <i>NUBPL</i> mitochondrial disease: new patients and review of the genetic and clinical spectrum. | J Med Genet | 2021 |
| 33718511 | Leigh Syndrome as a Phenotype of Near-Homoplasmic m.8344 A>G Variant in Children. | Child Neurol Open | 2021 |
| 33847457 | Heterozygous variants in SPTBN1 cause intellectual disability and autism. | Am J Med Genet A | 2021 |
| 33737013 | Hypoglycemia in mitochondrial disorders. | Mitochondrion | 2021 |
| 34041867 | A De Novo case of autosomal dominant mitochondrial membrane protein-associated neurodegeneration. | Mol Genet Genomic Med | 2021 |
| 32221810 | Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy. | Neurol Sci | 2020 |
| 31999386 | BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder. | Hum Mutat | 2020 |
| 31814314 | RARS1-related hypomyelinating leukodystrophy: Expanding the spectrum. | Ann Clin Transl Neurol | 2020 |
| 31896620 | Safety and efficacy of omaveloxolone in patients with mitochondrial myopathy: MOTOR trial. | Neurology | 2020 |
| 32693025 | De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. | Am J Hum Genet | 2020 |
| 32383331 | Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family. | Mol Genet Genomic Med | 2020 |
| 29480352 | Metabolomics Profile in ABAT Deficiency Pre- and Post-treatment. | JIMD Rep | 2019 |
| 31752325 | Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants. | J Clin Med | 2019 |
| 31653361 | Fatigue in primary genetic mitochondrial disease: No rest for the weary. | Neuromuscul Disord | 2019 |
| 30245510 | A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. | Genet Med | 2019 |
| 31216405 | Reanalysis of Clinical Exome Sequencing Data. | N Engl J Med | 2019 |
| 31353855 | Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations. | Ann Clin Transl Neurol | 2019 |
| 30954647 | Vulnerability of pediatric patients with mitochondrial disease to vaccine-preventable diseases. | J Allergy Clin Immunol Pract | 2019 |
| 30842973 | Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy. | Neurol Genet | 2019 |
| 30683676 | Diagnosis of 'possible' mitochondrial disease: an existential crisis. | J Med Genet | 2019 |
| 30643220 | Correction: A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. | Genet Med | 2019 |
| 30686625 | Expanding the Phenotypic Spectrum of CACNA1H Mutations. | Pediatr Neurol | 2019 |
| 29652210 | Idiopathic Central Nervous System Inflammatory Disease in the Setting of HLA-B27 Uveitis. | Ocul Immunol Inflamm | 2019 |
| 28803392 | Attitudes of Individuals with Gaucher Disease toward Substrate Reduction Therapies. | J Genet Couns | 2018 |
| 30193138 | IRF2BPL Is Associated with Neurological Phenotypes. | Am J Hum Genet | 2018 |
| 29800048 | Efficacy and Safety of Topical Rapamycin in Patients With Facial Angiofibromas Secondary to Tuberous Sclerosis Complex: The TREATMENT Randomized Clinical Trial. | JAMA Dermatol | 2018 |
| 30005812 | Short-term safety of mTOR inhibitors in infants and very young children with tuberous sclerosis complex (TSC): Multicentre clinical experience. | Eur J Paediatr Neurol | 2018 |
| 30057031 | IRF2BPL Is Associated with Neurological Phenotypes. | Am J Hum Genet | 2018 |
| 30284154 | Treatment of Disfiguring Cutaneous Lesions in Neurofibromatosis-1 with Everolimus: A Phase II, Open-Label, Single-Arm Trial. | Drugs R D | 2018 |
| 29529134 | The expanding neurological phenotype of DNM1L-related disorders. | Brain | 2018 |
| 29169869 | Reply to the Letter to the Editor by Josef Finsterer and Sinda Zarrouk-Mahjoub. | Pediatr Neurol | 2018 |
| 28659154 | Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia. | Orphanet J Rare Dis | 2017 |
| 28411234 | Phenotype of GABA-transaminase deficiency. | Neurology | 2017 |
| 29215644 | Response to Newman et al. | Genet Med | 2017 |
| 28749475 | Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. | Genet Med | 2017 |
| 28591633 | Cytochrome c Oxidase Activity Is a Metabolic Checkpoint that Regulates Cell Fate Decisions During T Cell Activation and Differentiation. | Cell Metab | 2017 |
| 28739363 | Involvement of Cerebellum in Leigh Syndrome: Case Report and Review of the Literature. | Pediatr Neurol | 2017 |
| 26954033 | Recommendations for the Management of Strokelike Episodes in Patients With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Strokelike Episodes. | JAMA Neurol | 2016 |