Macarena Serrano-Cabrera
6 Verdun Street
Perth, WA 6009, Australia
Perth, WA 6009, Australia
Last Updated: 09/26/2026
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Found 31 publications
Impact of Sexuality in Patients With Motor Neuron Disease.
Journal: Muscle & nerve
Published: January 14, 2026
Utilization of patient-reported outcome measures in amyotrophic lateral sclerosis management: a cross-sectional study of Spanish neurologists.
Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration
Published: July 11, 2025
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: April 16, 2024
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Journal: Brain : a journal of neurology
Published: December 14, 2023
The Iberian Roma Population Variant Server (IRPVS).
Journal: Journal of genetics and genomics = Yi chuan xue bao
Published: December 06, 2023
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Journal: Nature communications
Published: September 29, 2023
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Journal: Brain : a journal of neurology
Published: January 11, 2023
Recent advances in our understanding of genetic rhabdomyolysis.
Journal: Current opinion in neurology
Published: August 09, 2022
A KLHL40 3' UTR splice-altering variant causes milder NEM8, an under-appreciated disease mechanism.
Journal: Human molecular genetics
Published: June 10, 2022
Another step towards defining the genetic landscape of rhabdomyolysis.
Journal: Brain : a journal of neurology
Published: August 11, 2021
Last Updated: 09/26/2026