Results 241 to 250 of about 2,694,235 (387)

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

open access: yesAnnals 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

The repertoire for pattern recognition of pathogens by the innate immune system is defined by cooperation between toll-like receptors.

open access: yesProceedings of the National Academy of Sciences of the United States of America, 2000
A. Ozinsky   +7 more
semanticscholar   +1 more source

Pathogenicity Underestimated [PDF]

open access: yesDeutsches Ärzteblatt international, 2015
openaire   +2 more sources

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

open access: yesAnnals 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

Pathogen-specific predicting factors of childhood diarrhoea and their seasonality: evaluation from Rohingya refugees and host population in Cox's Bazar, Bangladesh. [PDF]

open access: yesJ Glob Health
Shaly NJ   +12 more
europepmc   +1 more source

Association between periodontal pathogens and systemic disease

open access: yesBiomedical Journal, 2019
Fiona Q. Bui   +7 more
semanticscholar   +1 more source

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