Microcephaly with Spastic Quadriplegia Latest Advances

Expanding the Phenotypic Spectrum of SLC1A4-Related Spastic Tetraplegia: A Case With Novel Multisystem Features.

Journal: Journal of investigative medicine high impact case reports

Published: April 04, 2026

MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.

Journal: Journal of molecular neuroscience : MN

Published: January 31, 2026

Rare Genetic Diseases with Founder Effect in Roma Children.

Journal: Life (Basel, Switzerland)

Published: January 18, 2026

Case Report of Dual Variants in SLC1A4 and APOE: A Possible Link Between Amino Acid and Lipid Metabolism.

Journal: Clinical case reports

Published: January 02, 2026

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review.

Journal: American journal of medical genetics. Part A

Published: November 06, 2025

Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay.

Journal: Annals of medicine and surgery (2012)

Published: September 03, 2024

Systemic complications of Aicardi Goutières syndrome using real-world data.

Journal: Molecular genetics and metabolism

Published: May 29, 2024

Risk Factor Predictors for Developing Epilepsy in Cerebral Palsy Patients in a Tertiary Hospital in Saudi Arabia: A Retrospective Study.

Journal: Cureus

Published: May 09, 2024

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.

Journal: Frontiers in pediatrics

Published: August 07, 2023

Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM).

Journal: Research square

Published: May 10, 2023

Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).

Journal: Mammalian genome : official journal of the International Mammalian Genome Society

Published: April 20, 2023

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.

Journal: Frontiers in pediatrics

Published: March 10, 2023

Microcephaly with Spastic Quadriplegia Latest Advances

Find the Latest Research About Microcephaly with Spastic Quadriplegia

Expanding the Phenotypic Spectrum of SLC1A4-Related Spastic Tetraplegia: A Case With Novel Multisystem Features.

Expanding the Phenotypic Spectrum of SLC1A4-Related Spastic Tetraplegia: A Case With Novel Multisystem Features.

MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.

MECP2 Variant Spectrum and Genotype-Phenotype Correlations in Iranian Rett Syndrome Patients: Identification of a Novel Frameshift Mutation.

Rare Genetic Diseases with Founder Effect in Roma Children.

Rare Genetic Diseases with Founder Effect in Roma Children.

Case Report of Dual Variants in SLC1A4 and APOE: A Possible Link Between Amino Acid and Lipid Metabolism.

Case Report of Dual Variants in SLC1A4 and APOE: A Possible Link Between Amino Acid and Lipid Metabolism.

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review.

Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review.

Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay.

Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay.

Systemic complications of Aicardi Goutières syndrome using real-world data.

Systemic complications of Aicardi Goutières syndrome using real-world data.

Risk Factor Predictors for Developing Epilepsy in Cerebral Palsy Patients in a Tertiary Hospital in Saudi Arabia: A Retrospective Study.

Risk Factor Predictors for Developing Epilepsy in Cerebral Palsy Patients in a Tertiary Hospital in Saudi Arabia: A Retrospective Study.

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.

Case report: A compound heterozygous mutations in ASNS broadens the spectrum of asparagine synthetase deficiency in the prenatal diagnosis.

Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM).

Generation and characterization of a knock-in mouse model for Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM).

Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).

Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.

Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational analysis.