Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia
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
Stigma, race, and testimonial injustice in mental health detention: Professionals experience of Compulsory Assessment and Treatment under The Mental Health Act 1983. [PDF]
Leah C +6 more
europepmc +1 more source
ABSTRACT Introduction Spinal cord infarction (SCI) is a rare but devastating myelopathy, characterized by a high disability rate and an unfavorable prognosis. It has often been underdiagnosed and misdiagnosed as idiopathic transverse myelitis (ITM). This study aimed to describe the clinical features, radiological biomarkers, treatments, and functional ...
Zeqiang Ji +13 more
wiley +1 more source
Showing Up is Still Resistance: Contextualizing Black Trainee Resistance in Medical Education. [PDF]
Kas-Osoka OA, Poitevien P.
europepmc +1 more source
Optimization of Bleaching Process and Evaluation of Pulp Performance for Super-Arundo Donax Kraft Pulp. [PDF]
Cai Z, Ji X, Liang J, Tian Z, Zhou J.
europepmc +1 more source
Development and Validation of a Green Analytical Method for Calcium Determination in Pharmaceuticals Using Curcumin: A Sustainable Approach. [PDF]
Dangi NB, Sharma H, Prasad Sapkota H.
europepmc +1 more source
Decolouring. The Racial Imprints of Upward Mobility in Lima's Dominant Class. [PDF]
Rentería M.
europepmc +1 more source
Geneticization in the genomic era: a scoping review of ethical, clinical, and sociocultural transformations. [PDF]
Shaheen S, Ghaly M.
europepmc +1 more source
The impact of Pleurotus eryngii on myofibrillar protein: Physicochemical properties and structural alterations in quick-frozen pork patties during freeze-thaw cycles. [PDF]
Sun Y, Li X, Liu H, Chai Y, Bao Y, Li F.
europepmc +1 more source

