Rolf Stucka

Munich, BY 81377, Germany

Last Updated: 09/26/2026

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Found 17 publications

A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase-like (HPDL) enzymes.

A bioinorganic view on the potential chemical space of hydroxyphenylpyruvate dioxygenase-like (HPDL) enzymes.

Journal: Journal of biological inorganic chemistry : JBIC : a publication of the Society of Biological Inorganic Chemistry

Published: September 23, 2025

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

HNRNPA1 de novo Variant Associated with Early Childhood Onset, Rapidly Progressive Generalized Myopathy.

Journal: Journal of neuromuscular diseases

Published: August 09, 2024

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.

Journal: Brain : a journal of neurology

Published: July 06, 2023

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.

Journal: Brain : a journal of neurology

Published: April 26, 2023

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Erratum to: Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: May 13, 2021

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Biallelic variants in HPDL cause pure and complicated hereditary spastic paraplegia.

Journal: Brain : a journal of neurology

Published: July 24, 2020

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.

Journal: Cell reports

Published: October 12, 2018

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration.

Journal: The EMBO journal

Published: August 22, 2018

MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.

MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.

Journal: Clinical genetics

Published: May 25, 2018

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.

Journal: American journal of human genetics

Published: October 17, 2016

Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems.

Targeted HIV-1 Latency Reversal Using CRISPR/Cas9-Derived Transcriptional Activator Systems.

Journal: PloS one

Published: April 01, 2016

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.

Journal: Nature genetics

Published: July 30, 2015

Showing 1-12 of 17

Last Updated: 09/26/2026