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Last Updated: 10/31/2025

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Found 70 publications

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities.

Journal: medRxiv : the preprint server for health sciences
Published: November 06, 2024

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus.

Journal: European journal of medical genetics
Published: July 25, 2024

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational study.

Journal: Seizure
Published: June 11, 2024

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Novel autosomal recessive SINO syndrome-associated KIDINS220 variants provide insight into the genotype-phenotype correlation.

Journal: Heliyon
Published: March 21, 2024

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.

Pre-clinical development of AP4B1 gene replacement therapy for hereditary spastic paraplegia type 47.

Journal: EMBO molecular medicine
Published: March 15, 2024

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias.

Journal: International journal of molecular sciences
Published: January 08, 2024

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

Epigenetic regulation of autophagy-related genes: Implications for neurodevelopmental disorders.

Journal: Autophagy
Published: September 07, 2023

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients.

Journal: Genes
Published: March 02, 2023

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

Journal: Clinical genetics
Published: August 18, 2022

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.

Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.

Journal: The Journal of clinical investigation
Published: August 16, 2022

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Arginase 1 deficiency presenting as complicated hereditary spastic paraplegia.

Journal: Cold Spring Harbor molecular case studies
Published: June 27, 2022

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.

Genetic overlap between dystonia and other neurologic disorders: A study of 1,100 exomes.

Journal: Parkinsonism & related disorders
Published: May 11, 2022
Showing 1-12 of 70

Last Updated: 10/31/2025