|
|
|
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 |
| |
|
Page 1 of 5 |
