Neurometabolic Diseases Lab

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1 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19. Science, 2020 Oct 23;370(6515) 71
2 Case Report: Benign Infantile Seizures Temporally Associated With COVID-19. Front Pediatr. 2020 Aug 6;8:507 64
3 Ceramide signalling in inherited and multifactorial brain metabolic diseases. 2020 Sep;143:105014 59
4 Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity,The Journal for Molecular Diagnosis. 2020 Sep;22(9):1205-1215 77
5 High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy. Brain Pathology 2020 Sep;30(5):945-963 64
6 A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection. Cell. 2020 Jun 11;181(6):1194-1199 64
7 HNRNPH1-related Syndromic Intellectual Disability: Seven Additional Cases Suggestive of a Distinct Syndromic Neurodevelopmental Syndrome. Clin Genet . 2020 Jul;98(1):91-98 101
8 Phenotypic Correlations in a Large Single Center Cohort of Patients With BSCL2 Nerve Disorders: A Clinical, Neurophysiological and Muscle MRI Study, European Journal of Neurology. 2020 Aug;27(8):1364-1373 100
9 The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. Free Radic Biol Med. 2020 May 20;152:797-809 88
10 A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. Annals of Clinical and Translational Neurology 2020 Jan;7(1):105-111. 89
11 POLR3A variants with striatal involvement and extrapyramidal movement disorder. Neurogenetics. 2020 Apr;21(2):121-133. 71
12 Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. Hum Mutat. 2020 Mar;41(3):632-640 87
13 Clinical presentation and proteomic signature of patients with TANGO2 mutations, J Inherit Metab Dis. 2020 Mar;43(2):297-308 89
14 Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism, International Parkinson and Movement Disorder Society. 2019 Oct;34(10):1547-1561 79
15 Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study. Neurotherapeutics. 2019 May 10 200
16 A novel mutation in the GFAP gene expands the phenotype of Alexander disease. J Med Genet. 2019 Apr 19 182
17 FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. Brain. 2019 Jun 1;142(6):1561-1572 201
18 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. J Clin Invest. 2019 Jan 8. 233
19 Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. 2018 Aug;10(8) 259
20 SIRT2 in age-related neurodegenerative disorders. Aging (Albany NY). 2018 Mar 3;10(3):295-296 226
 
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