D. Atkinson

Novel mutations in genes causing hereditary spastic paraplegia and Charcot-Marie-Tooth neuropathy identified by an optimized protocol for homozygosity mapping based on whole-exome sequencing

Y. Parman, E. Battaloğlu, H. Topaloglu, 2015, Genetics in Medicine.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, P. van Damme, 2014, neurogenetics.

Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort

Y. Parman, E. Battaloğlu, A. Jordanova, 2021, Neurology: Genetics.

Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy

T. Hornemann, B. Asselbergh, D. Blocquel, 2017, Neurology.

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Y. Parman, E. Battaloğlu, Byung-Ok Choi, 2019, neurogenetics.

MCM3AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2017, Brain : a journal of neurology.

MCM 3 AP in recessive Charcot-Marie-Tooth neuropathy and mild intellectual disability

P. Lockhart, L. Kauppi, A. Oshlack, 2022 .

Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.

J. Gécz, G. Ast, F. Glaser, 2022, American journal of human genetics.

Tyrosyl-tRNA synthetase has a noncanonical function in actin bundling

T. Godenschwege, A. Rodal, P. Verstreken, 2023, Nature Communications.

Human Rab7 mutation mimics features of Charcot–Marie–Tooth neuropathy type 2B in Drosophila

B. Asselbergh, K. Janssens, V. Timmerman, 2014, Neurobiology of Disease.

Pontocerebellar hypoplasia type 1 for the neuropediatrician: Genotype-phenotype correlations and diagnostic guidelines based on new cases and overview of the literature.

A. Jordanova, I. Litvinenko, A. Savov, 2018, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Unraveling the genetic landscape of autosomal recessive Charcot-Marie-Tooth neuropathies using a homozygosity mapping approach

S. Züchner, B. Dan, Y. Parman, 2014, neurogenetics.