Neurometabolic Diseases Lab

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1 Inborn errors of type I IFN immunity in patients with life-threatening COVID-19 24
2 Case Report: Benign Infantile Seizures Temporally Associated With COVID-19. 42
3 Ceramide signalling in inherited and multifactorial brain metabolic diseases. 36
4 Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity. 45
5 High-dose biotin restores redox balance, energy and lipid homeostasis, and axonal health in a model of adrenoleukodystrophy. 42
6 A Global Effort to Define the Human Genetics of Protective Immunity to SARS-CoV-2 Infection. 43
7 HNRNPH1-related Syndromic Intellectual Disability: Seven Additional Cases Suggestive of a Distinct Syndromic Neurodevelopmental Syndrome 73
8 Phenotypic Correlations in a Large Single Center Cohort of Patients With BSCL2 Nerve Disorders: A Clinical, Neurophysiological and Muscle MRI Study 79
9 The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. 67
10 A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. 60
11 POLR3A variants with striatal involvement and extrapyramidal movement disorder. 53
12 Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. 68
13 Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. 59
14 Clinical presentation and proteomic signature of patients with TANGO2 mutations. 68
15 Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study. 181
16 A novel mutation in the GFAP gene expands the phenotype of Alexander disease. 162
17 FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. 183
18 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. 213
19 Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. 240
20 SIRT2 in age-related neurodegenerative disorders 208
 
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