Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia

Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements

(2010) Mark Braschinsky et al.   BMC Neurology

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

(2010) J. M. Solowska et al.   HUMAN MOLECULAR GENETICS

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

(2010) Seong H. Park et al.   JOURNAL OF CLINICAL INVESTIGATION

Clinical and Analytical Findings in Gitelman’s Syndrome Associated with Homozygosity for the c.1925 G>A SLC12A3 Mutation

(2009) Eliecer Coto et al.   AMERICAN JOURNAL OF NEPHROLOGY

Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum

(2009) Marie-Paule Muriel et al.   JOURNAL OF NEUROCHEMISTRY

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

(2009) C Scuderi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Autosomal recessive spastic paraplegia (SPG45) with mental retardation maps to 10q24.3–q25.1

(2009) Umut Dursun et al.   NEUROGENETICS

NovelSPG3AandSPG4mutations in dominant spastic paraplegia families

(2008) J. L. Loureiro et al.   ACTA NEUROLOGICA SCANDINAVICA

Recent advances in the genetics of spastic paraplegias

(2008) Giovanni Stevanin et al.   Current Neurology and Neuroscience Reports

Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia

(2008) Moneef Shoukier et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

(2008) Sara Salinas et al.   LANCET NEUROLOGY