ORIGINAL RESEARCH
Published on 01 Jul 2024
ITPR1 variant-induced autosomal dominant hereditary spastic paraplegia in a Chinese family
doi 10.3389/fneur.2024.1365787
- 646 views
- Frontiers in Neurology
- Neurogenetics
- Research Topics
- Consanguinity and Rare Genetic Neurological Diseases
Consanguinity and Rare Genetic Neurological Diseases
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Articles
CASE REPORT
Published on 15 Apr 2024
AARS and CACNA1A mutations: diagnostic insights into a case report of uncommon epileptic encephalopathy phenotypes in two siblings
doi 10.3389/fneur.2024.1376643
- 1,051 views
BRIEF RESEARCH REPORT
Published on 21 Mar 2024
Autosomal recessive primary microcephaly type 2 associated with a novel WDR62 splicing variant that disrupts the expression of the functional transcript
doi 10.3389/fneur.2024.1341864
- 828 views
ORIGINAL RESEARCH
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Novel germline variants in KMT2C in Chinese patients with Kleefstra syndrome-2
doi 10.3389/fneur.2024.1340458
- 1,708 views
CASE REPORT
Published on 24 Nov 2023
Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review
doi 10.3389/fneur.2023.1251467
- 2,298 views
ERRATUM
Published on 20 Sep 2023
Erratum: Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane
doi 10.3389/fneur.2023.1290996
- 380 views
CASE REPORT
Published on 24 Aug 2023
A patient with MELAS syndrome combined with autoimmune abnormalities: a case report
doi 10.3389/fneur.2023.1239664
- 2,041 views
ORIGINAL RESEARCH
Published on 23 Aug 2023
Novel mutations in ATP7B in Chinese patients with Wilson's disease and identification of kidney disorder of thinning of the glomerular basement membrane
doi 10.3389/fneur.2023.1231605
- 1,361 views
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Frontiers in Neurology
- Neurogenetics
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