Neurometabolic Diseases Lab

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1 HNRNPH1-related Syndromic Intellectual Disability: Seven Additional Cases Suggestive of a Distinct Syndromic Neurodevelopmental Syndrome 25
2 Phenotypic Correlations in a Large Single Center Cohort of Patients With BSCL2 Nerve Disorders: A Clinical, Neurophysiological and Muscle MRI Study 23
3 The peroxisomal fatty acid transporter ABCD1/PMP-4 is required in the C. elegans hypodermis for axonal maintenance: A worm model for adrenoleukodystrophy. 19
4 A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases. 19
5 POLR3A variants with striatal involvement and extrapyramidal movement disorder. 18
6 Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia. 18
7 Parkinsonism and spastic paraplegia type 7: Expanding the spectrum of mitochondrial Parkinsonism. 19
8 Clinical presentation and proteomic signature of patients with TANGO2 mutations. 18
9 Biomarker Identification, Safety, and Efficacy of High-Dose Antioxidants for Adrenomyeloneuropathy: a Phase II Pilot Study. 110
10 A novel mutation in the GFAP gene expands the phenotype of Alexander disease. 91
11 FAHN/SPG35: a narrow phenotypic spectrum across disease classifications. 105
12 Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy. 148
13 Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy. 161
14 SIRT2 in age-related neurodegenerative disorders 137
15 Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice 339
16 Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia 248
17 Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation 210
18 Evaluation of afferent pain pathways in adrenomyeloneuropathic patients 246
19 Allelic Expression Imbalance Promoting a Mutant PEX6 Allele Causes Zellweger Spectrum Disorder 255
20 De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability 284
 
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