Results 321 to 330 of about 332,672 (384)

Clinical Phenotype and Neuroimaging Findings in Siblings with COX15 Deficiency: Case Report and Review of Previously Reported Cases

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Haya S. AlFaris   +8 more
wiley   +1 more source

Serum Cardiac Troponin T Levels as a Therapy Response Marker in Tofersen‐Treated ALS

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Cardiac troponin T (cTnT) levels are elevated in the majority of persons with amyotrophic lateral sclerosis (ALS) and increase over time. Neurofilament light chain (NfL) is an established therapy response biomarker in ALS as superoxide dismutase1 (SOD1)‐ALS patients treated with the antisense oligonucleotide tofersen show a ...
Sarah Bernsen   +7 more
wiley   +1 more source

[<sup>18</sup>F]FDG-PET and [<sup>18</sup>F]MPPF-PET are brain biomarkers for the creatine transporter Slc6a8 loss of function mutation. [PDF]

open access: yesSci Rep
Day I   +8 more
europepmc   +1 more source

Immune Characterization of a Vietnamese Cohort With Idiopathic Inflammatory Myopathies

open access: yesMuscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Idiopathic inflammatory myopathies (IIMs) are classified into five subtypes that are associated with distinct groups of myositis‐specific antibodies (MSAs). Variations in the prevalence, genetic predisposition and clinical manifestations exist in patients with IIM from different ethnic backgrounds.
Yue‐Bei Luo   +8 more
wiley   +1 more source

Enzyme‐Substrate Complex Formation and Electron Transfer in Nitrogenase‐Like Dark‐Operative Protochlorophyllide Oxidoreductase (DPOR)

open access: yesChemistryOpen, EarlyView.
Dark‐operative protochlorophyllide oxidoreductase (DPOR) participates in photosynthesis by catalyzing the ATP‐dependent reduction of protochlorophyllide to chlorophyllide. Structurally and mechanistically resembling nitrogenase, DPOR′s mechanism was investigated using visible spectroscopy.
Giada Bedendi   +2 more
wiley   +1 more source

Severe rhabdomyolysis in an infant due to fatty acid oxidation disorder: a case report. [PDF]

open access: yesJ Med Case Rep
Krug A   +6 more
europepmc   +1 more source

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