Pavel Seeman
Prague, PR, Czech Republic
Last Updated: 09/26/2026
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Found 76 publications
Gene-Pseudogene Inversions as a Hidden Source of Missing Heritability.
Journal: medRxiv : the preprint server for health sciences
Published: November 24, 2025
Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD.
Journal: Brain : a journal of neurology
Published: June 08, 2024
Phenotypic spectrum of variants in the FIG4 gene: variants associated with Charcot-Marie-Tooth 4J and parkinsonism.
Journal: European journal of medical genetics
Published: January 09, 2024
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Journal: Brain : a journal of neurology
Published: April 26, 2023
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 15, 2022
A progressive KY myopathy could be caused by a missense pathogenic variant.
Journal: Clinical genetics
Published: November 15, 2022
SPG11: clinical and genetic features of seven Czech patients and literature review.
Journal: Neurological research
Published: March 07, 2022
Czech family confirms the new 1p36.13-1p36.12 microdeletion syndrome.
Journal: Clinical genetics
Published: February 07, 2022
The NBN founder mutation-Evidence for a country specific difference in age at cancer manifestation.
Journal: Cancer reports (Hoboken, N.J.)
Published: September 29, 2021
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia.
Journal: Annals of neurology
Published: May 25, 2021
Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.
Journal: Brain : a journal of neurology
Published: May 13, 2021
Last Updated: 09/26/2026