Results 181 to 190 of about 308,172 (351)

Novel Clinical Insights From a Swedish RFC1 Spectrum Disorder Cohort. [PDF]

Eur J Neurol
Alm V, Säll L, Samuelsson K, Press R, Arnardottir S, Lindstrand A, Niemelä V, Terinte L, Nordin F, Svenningsson P, Nilsson D, Verrecchia L, Paucar M.   +12 more
europepmc   +1 more source

Homolateral ataxia and crural paresis: A vascular syndrome [PDF]

, 1965
Christopher Fisher, Michael H. Cole
openalex   +1 more source

Non‐Synaptic Function and Localization of Syntaxin‐Binding Protein 1 in a Mouse Model of STXBP1‐Related Epileptic Encephalopathy

Annals of Neurology, EarlyView.
Objective De novo mutations in the syntaxin‐binding protein 1 (STXBP1), encoded by STXBP1, are among the most prevalent causes of variable neurodevelopmental disorders, including epileptic encephalopathy, developmental delay, and movement disorders.
Tao Yang, Rajat Banerjee, Yamei Deng, Sheetal Jahagirdar1, Alexey I. Nesvizhskii, Michael D. Uhler, Jack M. Parent, Yu Wang   +7 more
wiley   +1 more source

Giant Choledochal Cyst in a Child With Spinocerebellar Ataxia: A Potential Molecular Link Through Aberrant Cytosolic Calcium Signaling

American Journal of Medical Genetics Part A, EarlyView.
Hiromi Sumitomo, Tomoyuki Akiyama, Tadashi Kaname, Toshiki Takenouchi   +3 more
wiley   +1 more source

The Phenotypic Spectrum of Sporadic Creutzfeldt‐Jakob Disease Cortical Subtype

Annals of Neurology, EarlyView.
Objective The objective of this study was to characterize the phenotypic spectrum of the rare sporadic Creutzfeldt‐Jakob disease cortical subtype (sCJDMM/MV2C) in a large multicentric autopsy cohort. Methods We evaluated clinical histories, biofluid markers, brain diffusion‐weighted (DW)‐magnetic resonance imaging (MRI), and electroencephalogram (EEG ...
Simone Baiardi, Claudia Marina Vargiu, Brian S. Appleby, Marcelo Barria, Giuseppe Mario Bentivenga, Ignazio Calì, Benedetta Carlà, Mark Cohen, Armin Giese, Jochen Herms, Aino‐Minerva Kortelainen, Anna Ladogana, Angela Mammana, Diane Ritchie, Otto Windl, Sabina Capellari, Piero Parchi   +16 more
wiley   +1 more source

RAB3A variants in ataxia and other neurodegenerative disorders. [PDF]

Brain
Percetti M, Monfrini E, Del Bo R, Canesi M, Cavallieri F, Di Rauso G, Fioravanti V, Del Prete E, Frosini D, Palermo G, Ceravolo R, Sacilotto G, Di Fonzo A.   +12 more
europepmc   +1 more source

Spinocerebellar Ataxia Type 6 Mutation Alters P-type Calcium Channel Function

, 2000
Shuta Toru, Takayuki Murakoshi, Kinya Ishikawa, Hironao Saegusa, Hiroto Fujigasaki, Toshiki Uchihara, Shin Nagayama, Makoto Osanai, Hidehiro Mizusawa, Tsutomu Tanabe   +9 more
openalex   +1 more source

Identification of Abnormal 51 CTA/CTG Expansion as Probably the Shortest Pathogenic Allele for Spinocerebellar Ataxia-8 in China [PDF]

, 2018
Minjin Wang, Shuo Guo, Wencong Yao, Jun Wang, Jianxia Tao, Yanbing Zhou, Binwu Ying   +6 more
openalex   +1 more source

Implantable Drug Delivery Systems for Skeletal Muscles and Eyes

Advanced NanoBiomed Research, EarlyView.
This review highlights the different types of recent implantable drug delivery systems (IDDS) fabricated for a use with skeletal muscles, and with eyes. It presents the developments already made and the current research directions, showing the evolution of IDDS and their great diversity.
Serge Ostrovidov, Murugan Ramalingam, Hongkai Wu, Toshinori Fujie, Yukinari Nakamura, Takeshi Hori, Yuji Nashimoto, Xuetao Shi, Hirokazu Kaji   +8 more
wiley   +1 more source

Clinical Phenotypes and Prognosis of Anti-mGluR1 Encephalitis: A Single-Center Case Series and Comprehensive Literature Review. [PDF]

Diagnostics (Basel)
Ban R, Yu Y, Jiang J, Shen D, Liu M, Fan S, Ren H, Guan H.   +7 more
europepmc   +1 more source