Friedrich Stock

Essen, NW, Germany

Last Updated: 09/26/2026

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Found 13 publications

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: medRxiv : the preprint server for health sciences
Published: September 15, 2025

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Systematic analysis of snRNA genes reveals frequent RNU2-2 variants in dominant and recessive developmental and epileptic encephalopathies.

Journal: Nature genetics
Published: September 02, 2025

The role of LSR gene variants in early onset intrahepatic cholestasis: a case series with treatment options.

The role of LSR gene variants in early onset intrahepatic cholestasis: a case series with treatment options.

Journal: Frontiers in pediatrics
Published: February 24, 2025

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: September 29, 2021

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.

Prepubertal Periodontitis in a Patient with Combined Classical and Periodontal Ehlers-Danlos Syndrome.

Journal: Biomolecules
Published: December 21, 2020

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.

Location matters - Genotype-phenotype correlation in LRSAM1 mutations associated with rare Charcot-Marie-Tooth neuropathy CMT2P.

Journal: Neuromuscular disorders : NMD
Published: July 24, 2020

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

New Variant of MELAS Syndrome With Executive Dysfunction, Heteroplasmic Point Mutation in the MT-ND4 Gene (m.12015T>C; p.Leu419Pro) and Comorbid Polyglandular Autoimmune Syndrome Type 2.

Journal: Frontiers in immunology
Published: December 24, 2018

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?

Journal: Frontiers in psychiatry
Published: December 23, 2018

Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience.

Personalized Clinical Decision Making Through Implementation of a Molecular Tumor Board: A German Single-Center Experience.

Journal: JCO precision oncology
Published: August 16, 2018

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.

17q12 Deletion Syndrome as a Rare Cause for Diabetes Mellitus Type MODY5.

Journal: The Journal of clinical endocrinology and metabolism
Published: May 02, 2018

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.

Heterozygous deletion of SCN2A and SCN3A in a patient with autism spectrum disorder and Tourette syndrome: a case report.

Journal: BMC psychiatry
Published: November 28, 2017

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

Novel compound heterozygous synaptojanin-1 mutation causes l-dopa-responsive dystonia-parkinsonism syndrome.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: August 30, 2016
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Last Updated: 09/26/2026