HPDL Variant Type Correlates With Clinical Disease Onset and Severity
ABSTRACT Objective Recently, a mitochondrial encephalopathy due to biallelic HPDL variants was described, associated with a broad range of clinical manifestations ranging from severe, infantile‐onset neurodegeneration to adolescence‐onset hereditary spastic paraplegia. HPDL converts 4‐hydroxyphenylpyruvate acid (4‐HPPA) into 4‐hydroxymandelate (4‐HMA),
Eun Hye Lee+19 more
wiley +1 more source
The contribution of nuclear medicine in the research of canine behaviour disorders [PDF]
Peremans, Kathelijne
core +2 more sources
Current Status and Future Perspectives of Nuclear Medicine in Prostate Cancer from Imaging to Therapy: A Comprehensive Review. [PDF]
Lee J, Kim T.
europepmc +1 more source
Evaluative studies in nuclear medicine research. Progress report, October 1, 1979-June 30, 1980
E. James Potchen
openalex +1 more source
Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero+15 more
wiley +1 more source
The role of nuclear medicine in central nervous system evaluation.
Shadmani G, Swingle CA, Coffman CH.
europepmc +1 more source
Correction: Generative AI and large language models in nuclear medicine: current status and future prospects. [PDF]
Hirata K+16 more
europepmc +1 more source
Nuclear medicine technology. Progress report, quarter ending March 31, 1980
Furn F. Knapp
openalex +2 more sources
Histone Deacetylase 6 Brain PET in Amyotrophic Lateral Sclerosis‐Frontotemporal Spectrum Disorder
ABSTRACT Objective [18F]EKZ‐001 is a positron emission tomography (PET) tracer targeting histone deacetylase 6 (HDAC6), an enzyme responsible for intracellular transport and clearance of misfolded proteins. HDAC6 modulation is a promising treatment strategy in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS).
Greet Vanderlinden+15 more
wiley +1 more source