Results 151 to 160 of about 16,402 (224)

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

Jessica Wiseman, Joseph M. Scarrott, João Alves-Cruzeiro, Afshin Saffari, Cedric Böger, Evangelia Karyka, Emily Dawes, Alexandra K. Davies, Paolo Marchi, Emily Graves, Fiona Fernandes, Zih-Liang Yang, Ian Coldicott, Jennifer Hirst, Christopher P Webster, J. Robin Highley, Neil R. Hackett, Adrienn Angyal, Thushan I. de Silva, Adrian Higginbottom, Pamela J. Shaw, Laura Ferraiuolo, Darius Ebrahimi‐Fakhari, Mimoun Azzouz   +23 more
openalex   +1 more source

High frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia [PDF]

, 2014
Min-Yu Lan, Yung-Yee Chang, Tu-Hseuh Yeh, Szu‐Chia Lai, Chia‐Wei Liou, Hung-Chou Kuo, Yih‐Ru Wu, Rong-Kuo Lyu, Jen-Wen Hung, Ying-Chao Chang, Chin-Song Lu   +10 more
openalex   +1 more source

Expanding the clinical phenotype of DYNC1H1 -associated mutations: a Chinese family with autosomal dominant complex hereditary spastic paraplegia. [PDF]

BMC Med Genomics
Yuan X, Zhang S, Tang Y.
europepmc   +1 more source

A novel <i>KIDINS220</i> mutation associated with hereditary spastic paraplegia accompanied by severe peripheral neuropathy. [PDF]

Front Neurosci
Chu X, Xu J, Zheng Y, Liu X, Yuan Y, Wu R.   +5 more
europepmc   +1 more source

Hereditary Spastic Paraplegia-Report of 2 Cases in a Family

, 2013
Kanij Fatema, Mizanur Rahman, Shaheen Akhter, Tahmina Karim   +3 more
openalex   +2 more sources

Wings of Discovery: Using <i>Drosophila</i> to Decode Hereditary Spastic Paraplegia and Ataxias. [PDF]

Cells
Vivarelli R, Vantaggiato C, Bassi MT, Santorelli FM, Marchese M.   +4 more
europepmc   +1 more source

A Case of Hereditary Spastic Paraplegia Type 50 With a Novel AP4M1 Variant and a Brief Review of the Literature. [PDF]

Clin Case Rep
Guerra AT, Travessa AM, Monteiro JP.
europepmc   +1 more source

ALDH18A1‐related hereditary spastic paraplegia and developmental and epileptic encephalopathy with spike‐wave activation in sleep: Expanding the clinical phenotype [PDF]

Giusi Ferrara, Gianni Cutillo, Irene Peterlongo, Eleonora Minacapilli, Maria Iascone, Pierangelo Veggiotti, Isabella Fiocchi   +6 more
openalex   +1 more source

Toxoplasmosis accelerates the progression of hereditary spastic paraplegia. [PDF]

mSphere
Alvin JR, Ramírez-Flores CJ, Mendina CA, Audhya A, Knoll LJ, Lettman MM.   +5 more
europepmc   +1 more source

Fluid Biomarkers in Hereditary Spastic Paraplegia: A Narrative Review and Integrative Framework for Complex Neurodegenerative Mechanisms. [PDF]

Genes (Basel)
Cipriano L, Setola N, Barghigiani M, Santorelli FM.   +3 more
europepmc   +1 more source