Aliz Zimmermann

Szeged, CS, Hungary

Last Updated: 09/26/2026

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Found 10 publications

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.

A novel de novo truncating variant in a Hungarian patient with CTNNB1 neurodevelopmental disorder.

Journal: BMC pediatrics

Published: July 28, 2023

Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.

Novel heterozygous STUB1 gene mutation causes SCA48 in a Hungarian patient.

Journal: Ideggyogyaszati szemle

Published: March 09, 2023

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.

Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1.

Journal: Brain & development

Published: May 06, 2020

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

A Novel Homozygous Frameshift WDR81 Mutation associated with Microlissencephaly, Corpus Callosum Agenesis, and Pontocerebellar Hypoplasia.

Journal: Journal of pediatric genetics

Published: February 18, 2020

Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.

Further delineation of the phenotype of PAK3-associated x-linked intellectual disability: Identification of a novel missense mutation and review of literature.

Journal: European journal of medical genetics

Published: June 03, 2019

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

Co-occurrence of mutations in FOXP1 and PTCH1 in a girl with extreme megalencephaly, callosal dysgenesis and profound intellectual disability.

Journal: Journal of human genetics

Published: July 12, 2018

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III.

Journal: Nature communications

Published: November 17, 2014

The clinical manifestations of two novel SPAST mutations.

The clinical manifestations of two novel SPAST mutations.

Journal: Clinical neurology and neurosurgery

Published: June 18, 2014

Spectrum of neurodevelopmental disabilities: a cohort study in hungary.

Spectrum of neurodevelopmental disabilities: a cohort study in hungary.

Journal: Journal of child neurology

Published: May 29, 2014

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Journal: Orphanet journal of rare diseases

Published: January 14, 2014

Showing 1-10 of 10

Last Updated: 09/26/2026