Spastic Paraplegia Type 3A Latest Advances

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Journal: Journal of neurology

Published: June 04, 2024

A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.

Journal: American journal of medical genetics. Part A

Published: August 10, 2023

Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.

Journal: Human genetics

Published: January 16, 2023

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

Journal: Human molecular genetics

Published: June 23, 2022

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Journal: Neurogenetics

Published: April 10, 2022

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: February 23, 2022

Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.

Journal: Parkinsonism & related disorders

Published: February 11, 2021

Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia.

Journal: Acta neuropathologica communications

Published: September 08, 2020

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Journal: Developmental medicine and child neurology

Published: March 11, 2020

Anaesthesia and orphan disease: Management of a case of Strumpell-Lorrain disease and review of the literature.

Journal: European journal of anaesthesiology

Published: July 07, 2017

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Journal: European journal of human genetics : EJHG

Published: November 13, 2015

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: December 09, 2014

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Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.

A novel homozygous variant in ATL1 associated with early onset spastic paraplegia 3A: Further evidence for autosomal recessive inheritance.

Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.

Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila.

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations.

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain 18F-FDG PET.

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review.

Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.

Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.

Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia.

Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia.

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study.

Anaesthesia and orphan disease: Management of a case of Strumpell-Lorrain disease and review of the literature.

Anaesthesia and orphan disease: Management of a case of Strumpell-Lorrain disease and review of the literature.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan.

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.

De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.