Lejla Mulahasanovic
Tuebingen, BW, Germany
Last Updated: 09/26/2026
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Found 13 publications
Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome.
Journal: Neurological research and practice
Published: July 10, 2022
Stx4 is required to regulate cardiomyocyte Ca2+ handling during vertebrate cardiac development.
Journal: HGG advances
Published: January 06, 2022
Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers.
Journal: Neurological research and practice
Published: November 10, 2021
The Genomic Impact of European Colonization of the Americas.
Journal: Current biology : CB
Published: July 05, 2019
Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.
Journal: Molecular biology reports
Published: March 07, 2019
Hypotrichosis with cone-rod dystrophy in a patient with cadherin 3 (CDH3) mutation.
Journal: Documenta ophthalmologica. Advances in ophthalmology
Published: September 25, 2018
A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C.
Journal: Neuromolecular medicine
Published: July 31, 2018
A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation.
Journal: Frontiers in neurology
Published: March 27, 2018
Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies.
Journal: Journal of neurochemistry
Published: May 07, 2017
Genomic analyses inform on migration events during the peopling of Eurasia.
Journal: Nature
Published: September 20, 2015
Last Updated: 09/26/2026