Esther Gill

Berlin, BE, Germany

Last Updated: 09/26/2026

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Found 14 publications

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Autophagic vacuolar myopathy is a common feature of CLN3 disease.

Journal: Annals of clinical and translational neurology

Published: September 01, 2018

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

Muscle Weakness, Cardiomyopathy, and L-2-Hydroxyglutaric Aciduria Associated with a Novel Recessive SLC25A4 Mutation.

Journal: JIMD reports

Published: November 29, 2017

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness.

Journal: Human genetics

Published: January 23, 2017

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia.

Journal: Mitochondrion

Published: December 24, 2016

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.

Journal: Acta neuropathologica

Published: May 30, 2016

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

Klüver-Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C).

Journal: European journal of human genetics : EJHG

Published: May 12, 2016

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression.

Characterization of a Dmd (EGFP) reporter mouse as a tool to investigate dystrophin expression.

Journal: Skeletal muscle

Published: April 11, 2016

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

A movement disorder with dystonia and ataxia caused by a mutation in the HIBCH gene.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: February 18, 2016

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures.

Journal: American journal of human genetics

Published: September 18, 2015

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Recessive REEP1 mutation is associated with congenital axonal neuropathy and diaphragmatic palsy.

Journal: Neurology. Genetics

Published: July 11, 2015

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

Recessive DEAF1 mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy.

Journal: Journal of medical genetics

Published: February 19, 2015

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Recessive truncating IGHMBP2 mutations presenting as axonal sensorimotor neuropathy.

Journal: Neurology

Published: January 09, 2015

Showing 1-12 of 14

Last Updated: 09/26/2026