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| 36927155 | <i>OPA1</i> disease-causing mutants have domain-specific effects on mitochondrial ultrastructure and fusion. | Proc Natl Acad Sci U S A | 2023 |
| 36819661 | Remote visualization of large-scale genomic alignments for collaborative clinical research and diagnosis of rare diseases. | Cell Genom | 2023 |
| 36857307 | Complex genetic variants and novel phenotypes in hereditary peripheral neuropathies. | Brain | 2023 |
| 36813324 | Peripheral neuropathy in mitochondrial disease. | Handb Clin Neurol | 2023 |
| 36692708 | A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. | Mol Neurobiol | 2023 |
| 36941504 | Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. | Mol Neurobiol | 2023 |
| 36895957 | Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort. | Brain Commun | 2023 |
| 34508595 | Elucidating the molecular mechanisms associated with TARS2-related mitochondrial disease. | Hum Mol Genet | 2022 |
| 35441706 | A randomized, double-blind trial of triheptanoin for drug-resistant epilepsy in glucose transporter 1 deficiency syndrome. | Epilepsia | 2022 |
| 35474314 | Molecular and neurological features of MELAS syndrome in paediatric patients: A case series and review of the literature. | Mol Genet Genomic Med | 2022 |
| 35579942 | A translatable RNAi-driven gene therapy silences PMP22/Pmp22 genes and improves neuropathy in CMT1A mice. | J Clin Invest | 2022 |
| 35373813 | Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy. | Brain | 2022 |
| 35101074 | Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects. | Orphanet J Rare Dis | 2022 |
| 35148379 | NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice. | Brain | 2022 |
| 35141356 | Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy. | Mov Disord Clin Pract | 2022 |
| 35112411 | Identification of a novel homozygous synthesis of cytochrome c oxidase 2 variant in siblings with early-onset axonal Charcot-Marie-Tooth disease. | Hum Mutat | 2022 |
| 34791078 | High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases. | Brain | 2022 |
| 34519148 | A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents. | Am J Med Genet A | 2022 |
| 34599609 | Homozygous WASHC4 variant in two sisters causes a syndromic phenotype defined by dysmorphisms, intellectual disability, profound developmental disorder, and skeletal muscle involvement. | J Pathol | 2022 |
| 32909314 | Inherited neuropathies with predominant upper limb involvement: genetic heterogeneity and overlapping pathologies. | Eur J Neurol | 2021 |
| 33883237 | [[11]C]PK11195-PET Brain Imaging of the Mitochondrial Translocator Protein in Mitochondrial Disease. | Neurology | 2021 |
| 33792664 | INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH. | Brain | 2021 |
| 33767318 | Correction: Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. | J Hum Genet | 2021 |
| 33712684 | Megaconial congenital muscular dystrophy secondary to novel CHKB mutations resemble atypical Rett syndrome. | J Hum Genet | 2021 |
| 33753480 | CMT2N-causing aminoacylation domain mutants enable Nrp1 interaction with AlaRS. | Proc Natl Acad Sci U S A | 2021 |
| 33752678 | Correction to: A guide to writing systematic reviews of rare disease treatments to generate FAIRcompliant datasets: building a Treatabolome. | Orphanet J Rare Dis | 2021 |
| 33692503 | AAV9-mediated Schwann cell-targeted gene therapy rescues a model of demyelinating neuropathy. | Gene Ther | 2021 |
| 33832841 | Muscle fat replacement and modified ragged red fibers in two patients with reversible infantile respiratory chain deficiency. | Neuromuscul Disord | 2021 |
| 34859152 | White Matter Hyperintensities and Cerebral Microbleeds in Ataxia-Telangiectasia. | Neurol Genet | 2021 |
| 34736635 | Primary mitochondrial myopathies in childhood. | Neuromuscul Disord | 2021 |
| 34758253 | 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report. | N Engl J Med | 2021 |
| 34732400 | Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study. | BMJ | 2021 |
| 34428295 | MitoPhen database: a human phenotype ontology-based approach to identify mitochondrial DNA diseases. | Nucleic Acids Res | 2021 |
| 34692675 | Intracellular Lipid Accumulation and Mitochondrial Dysfunction Accompanies Endoplasmic Reticulum Stress Caused by Loss of the Co-chaperone <i>DNAJC3</i>. | Front Cell Dev Biol | 2021 |
| 34516839 | The integrated stress response contributes to tRNA synthetase-associated peripheral neuropathy. | Science | 2021 |
| 34480796 | Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 33970200 | Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia. | Brain | 2021 |
| 34248822 | The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias. | Front Neurol | 2021 |
| 34267341 | Correction: A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis. | Eur J Hum Genet | 2021 |
| 34318312 | Modelling Charcot-Marie-Tooth disease in a dish reveals common cell type-specific alterations. | Brain | 2021 |
| 34333724 | A founder mutation in the GMPPB gene [c.1000G⿿>⿿A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients. | Neurogenetics | 2021 |
| 34308912 | Targeted Therapies for Leigh Syndrome: Systematic Review and Steps Towards a 'Treatabolome'. | J Neuromuscul Dis | 2021 |
| 33459658 | Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy. | J Neuromuscul Dis | 2021 |
| 33428302 | Molecular pathophysiology of human MICU1 deficiency. | Neuropathol Appl Neurobiol | 2021 |
| 33320377 | Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa. | J Inherit Metab Dis | 2021 |
| 32773395 | Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'. | J Neuromuscul Dis | 2021 |
| 31339582 | Clinical presentation and proteomic signature of patients with TANGO2 mutations. | J Inherit Metab Dis | 2020 |
| 31985473 | Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants. | J Neuromuscul Dis | 2020 |
| 32042920 | COL4A1-related autosomal recessive encephalopathy in 2 Turkish children. | Neurol Genet | 2020 |
| 32040566 | Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion. | Brain | 2020 |