Results 161 to 170 of about 16,402 (224)

ALS2-related disorders [PDF]

, 2016
Orrell, RW
core  

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

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant. [PDF]

Hum Genome Var
Miura S, Suenaga S, Goto H, Wang Z, Makino A, Fan L, Senzaki K, Ochi M, Ohyagi Y, Shibata H.   +9 more
europepmc   +1 more source

Converging cellular themes for the hereditary spastic paraplegias

, 2018
Craig Blackstone
openalex   +2 more sources

"Ear of the Lynx" Sign in Hereditary Spastic Paraplegia 76. [PDF]

J Clin Neurol
Lee MJ, Park HJ, Lee JM, Lee JH.
europepmc   +1 more source

A Novel Homozygous p.R1105X Mutation of the AP4E1 Gene in Twins with Hereditary Spastic Paraplegia and Mycobacterial Disease

, 2013
Xiao‐Fei Kong, Aziz Bousfiha, A. Rouissi, Yuval Itan, Avinash Abhyankar, Vanessa L. Bryant, Satoshi Okada, Fatima Ailal, Jacinta Bustamante, Jean‐Laurent Casanova, Jennifer Hirst, Stéphanie Boisson‐Dupuis   +11 more
openalex   +2 more sources

Ziclague^® (Alpinia Zerumbet oil) in patients with hereditary spastic paraplegia - the randomized controlled ZISPAST trial. [PDF]

Orphanet J Rare Dis
de Lima FD, Servelhere KR, Bittar MFR, González-Salazar C, Martinez ARM, Benaglia T, de Sá Carvalho B, Pedroso JL, Graziani Povoas Barsottini O, Nucci A, França MC.   +10 more
europepmc   +1 more source

Establishment of SPAST mutant induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia (HSP) patient

, 2016
Stefan Hauser, Melanie Erzler, Yvonne Theurer, Stefanie Schuster, Rebecca Schüle, Lüdger Schöls   +5 more
openalex   +1 more source

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

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography. [PDF]

Brain Commun
Miroglio R, Hocquel A, Ravel JM, Clément G, Puisieux S, Meyer M, Lavigne L, Dillier C, Liao L, Schmitt E, Hopes L, Michaud M, Pittion-Vouyovitch S, Lambert L, Guillaud-Bataille M, Banneau G, Bossenmeyer-Pourié C, Bonnet C, Verger A, Renaud M.   +19 more
europepmc   +1 more source