Results 171 to 180 of about 21,283 (267)

Strumpellin is a novel valosin-containing protein (VCP/p97)-binding partner linking hereditary spastic paraplegia to protein aggregation diseases [PDF]

, 2010
Tangavelou, Karthikeyan
core  

Genotype-phenotype correlations in 18 European patients with heterozygous <i>KIF1A</i> variants: key considerations for assessing <i>KIF1A</i> variant causality. [PDF]

Front Med (Lausanne)
Uhrova Meszarosova A, Galiart E, Lassuthova P, Kolokotronis K, Seidl B, Musilova A, Peckova A, Takacsova A, Vyhnalkova E, Grecmalova D, Vlckova E, Skutilova V, Steindl K, Rauch A, Stettner GM, Safka Brozkova D.   +15 more
europepmc   +1 more source

Hereditary spastic paraplegia: from decades of therapy to future innovations. [PDF]

Ther Adv Neurol Disord
Cipriano L, Angelini C, Maria Santorelli F.   +2 more
europepmc   +1 more source

Hereditary Spastic Paraplegia [PDF]

, 2019
openaire   +1 more source

Hereditary spastic paraparesis and other hereditary myelopathies [PDF]

, 2018
Bunn, L, Denton, A, Marsden, J, Padmakumari Sivaraman Nair, K   +3 more
core   +1 more source

Very late-onset Krabbe disease with concomitant dementia: case description and a critical review of the literature. [PDF]

Neurol Sci
Rossi S, Tessa A, Vita MG, Russo R, Parisi D, Piemonte F, Dalla Zanna G, Santorelli FM, Silvestri G.   +8 more
europepmc   +1 more source

A Novel Frameshift Variant in the SPAST Gene Causing Hereditary Spastic Paraplegia in a Bulgarian-Turkish Family. [PDF]

Neurol Int
Levkova M, Tsalta-Mladenov M, Kaprelyan A.   +2 more
europepmc   +1 more source

Subclinical involvement of central nervous system structures other than motor or sensory tracts in SPG3A and SPG4 patients. [PDF]

BMC Neurol
Sobanska A, Sulek A, Stepniak I, Elert-Dobkowska E, Wierzbicka A, Lojkowska W, Rakowicz M.   +6 more
europepmc   +1 more source

ALS2-related disorders [PDF]

, 2016
Orrell, RW
core  

Expansion of the genetic and phenotypic spectrum of hereditary spastic paraplegia caused by <i>ABHD16A</i> gene variants: an integrated analysis based on novel variants and literature review. [PDF]

Front Pediatr
He M, Zhang Q, Chen S, Li C, Xie B, Zhao Q, Huang Y, Fan X.   +7 more
europepmc   +1 more source