|
| 38041964 | Adult-onset neurodegeneration in XMEN disease. | J Neuroimmunol | 2024 |
| 37788905 | Spectrum of <i>LYST</i> mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature. | J Med Genet | 2024 |
| 35913761 | Repeat expansions nested within tandem CNVs: a unique structural change in GLS exemplifies the diagnostic challenges of non-coding pathogenic variation. | Hum Mol Genet | 2023 |
| 37547187 | Genomic Diagnoses for Ectopic Intracerebral Calcifications. | Neurol Genet | 2023 |
| 37883914 | Risks and benefits of anesthesia for combined pediatric procedures in the NIH undiagnosed diseases program. | Mol Genet Metab | 2023 |
| 37609196 | An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants. | bioRxiv | 2023 |
| 37388215 | Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion. | Front Endocrinol (Lausanne) | 2023 |
| 37013609 | Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability. | EMBO Mol Med | 2023 |
| 36541585 | A de novo hexokinase 1 (HK1) variant presenting as Boucher-Neuhäuser syndrome. | Am J Med Genet A | 2023 |
| 36774715 | MYH2-associated myopathy caused by a novel splice-site variant. | Neuromuscul Disord | 2023 |
| 36711613 | Germline loss-of-function <i>PAM</i> variants are enriched in subjects with pituitary hypersecretion. | medRxiv | 2023 |
| 36941081 | TNF-Blockade for Primary Stroke Prevention in Adenosine Deaminase 2 Deficiency: A Case Series. | Neurol Neuroimmunol Neuroinflamm | 2023 |
| 36700853 | Gene expression changes in Tay-Sachs disease begin early in fetal brain development. | J Inherit Metab Dis | 2023 |
| 36181424 | Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome. | Brain | 2023 |
| 34382076 | De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus. | Brain | 2022 |
| 35800887 | Myoclonus generators in sialidosis. | Clin Neurophysiol Pract | 2022 |
| 35490291 | Diagnosis and discovery: Insights from the NIH Undiagnosed Diseases Program. | J Inherit Metab Dis | 2022 |
| 35848209 | Adults with lysosomal storage diseases in the undiagnosed diseases network. | Mol Genet Genomic Med | 2022 |
| 35868845 | Gain-of-function mutations in <i>ALPK1</i> cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome. | Ann Rheum Dis | 2022 |
| 36103453 | Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. | Mov Disord | 2022 |
| 35095905 | The Spectrum of the Deficiency of Adenosine Deaminase 2: An Observational Analysis of a 60 Patient Cohort. | Front Immunol | 2022 |
| 35312150 | Systematic analysis of physical examination characteristics of 94 individuals with Joubert syndrome: Keys to suspecting the diagnosis. | Am J Med Genet C Semin Med Genet | 2022 |
| 32753397 | A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spot. | Br J Ophthalmol | 2021 |
| 33842068 | Facial Onset Sensory and Motor Neuronopathy: New Cases, Cognitive Changes, and Pathophysiology. | Neurol Clin Pract | 2021 |
| 34450229 | The GM2 gangliosidoses: Unlocking the mysteries of pathogenesis and treatment. | Neurosci Lett | 2021 |
| 34652576 | TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy. | Hum Genet | 2021 |
| 34277935 | PARK7-Related Early Onset Parkinson Disease in the Setting of Complete Uniparental Isodisomy of Chromosome 1. | Neurol Genet | 2021 |
| 34089226 | Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy. | Am J Med Genet A | 2021 |
| 33970744 | Compound heterozygous <i>KCTD7</i> variants in progressive myoclonus epilepsy. | J Neurogenet | 2021 |
| 33029936 | Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. | Am J Med Genet A | 2021 |
| 33389762 | Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. | Muscle Nerve | 2021 |
| 32227455 | Neurological manifestations of Erdheim-Chester Disease. | Ann Clin Transl Neurol | 2020 |
| 33424983 | Chediak-Higashi syndrome: a review of the past, present, and future. | Drug Discov Today Dis Models | 2020 |
| 33104717 | Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development. | PLoS Genet | 2020 |
| 33097395 | Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome. | Mol Genet Metab | 2020 |
| 33150406 | KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation. | Brain | 2020 |
| 33004675 | Autosomal dominant VCP hypomorph mutation impairs disaggregation of PHF-tau. | Science | 2020 |
| 32746863 | A feasibility study of mHealth and wearable technology in late onset GM2 gangliosidosis (Tay-Sachs and Sandhoff Disease). | Orphanet J Rare Dis | 2020 |
| 32990340 | Diagnosis of Chediak Higashi disease in a 67-year old woman. | Am J Med Genet A | 2020 |
| 32150337 | A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease. | Am J Med Genet A | 2020 |
| 32143456 | Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I. | J Clin Med | 2020 |
| 32544203 | yippee like 3Â (ypel3) is a novel gene required for myelinating and perineurial glia development. | PLoS Genet | 2020 |
| 30528883 | Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. | Mol Genet Metab | 2019 |
| 31351085 | Botulinum toxin and occupational therapy for Writer's cramp. | Toxicon | 2019 |
| 31461177 | Chronic Dengue Virus Panencephalitis in a Patient with Progressive Dementia with Extrapyramidal Features. | Ann Neurol | 2019 |
| 31626395 | Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral artery. | Birth Defects Res | 2019 |
| 31155284 | Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification. | Am J Hum Genet | 2019 |
| 30830864 | PARP1 inhibition alleviates injury in ARH3-deficient mice and human cells. | JCI Insight | 2019 |
| 31060595 | The neuropsychological phenotype of Chediak-Higashi disease. | Orphanet J Rare Dis | 2019 |
| 30883434 | Emerging molecular mechanisms of vascular dementia. | Curr Opin Hematol | 2019 |