Results 251 to 260 of about 2,641,789 (298)
Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda +12 more
wiley +1 more source
A new LUCApedia database for data-driven research on early evolutionary history. [PDF]
Bioinform AdvNikfarjam Z +4 more
europepmc +1 more source
Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan +3 more
wiley +1 more source
Compliance With the British Association of Urological Surgeons (BAUS) Standards on Ureteric Stent Documentation: A Retrospective Clinical Audit. [PDF]
CureusElmadani A.
europepmc +1 more source
TCRdb 2.0: an updated T-cell receptor sequence database. [PDF]
Nucleic Acids ResYue T +5 more
europepmc +1 more source
Open Enzyme Database: a community-wide repository for sharing enzyme data. [PDF]
Nucleic Acids ResYuan L +9 more
europepmc +1 more source