Results 281 to 290 of about 242,580 (385)

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece

Clinical Genetics, EarlyView.
We investigated 112 Greek index‐cases with hereditary spastic paraplegia collected over > 25 years using NGS and MLPA. We identified a causative variant in 68 patients (60.7%), including 7 novel causative variants. This study presents a comprehensive overview of the phenotypic and genotypic spectrum of HSP in the Greek population.
Georgios Koutsis, Viorica Chelban, Chrisoula Kartanou, Zoi Kontogeorgiou, Chrysoula Koniari, Nikolaos Ragazos, Charalampos Voudommatis, Kristina Zhelcheska, David S. Lynch, Reza Maroofian, Ehsan Barkhordari, Rahema Mohammad, Ioannis Zaganas, Minas Drakos, Georgia Xiromerisiou, Efthymios Dardiotis, Leonidas Stefanis, Marios Panas, Henry Houlden, Georgia Karadima   +19 more
wiley   +1 more source

The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis. [PDF]

Brain Commun
van Vugt JJFA, Zwamborn RAJ, Dolzhenko E, Eberle MA, Weisburd B, Bekema E, Kooyman M, Wang BN, Project MinE ALS Sequencing Consortium , Kamsteeg EJ, Losekoot M, Baas F, Novy C, Høyer H, van Eijk RPA, van Es MA, van Rheenen W, Al-Chalabi A, van den Berg LH, Veldink JH.   +19 more
europepmc   +1 more source

Development of OTPD4ALS: A Specialized Database for Efficient Screening of Anti-amyotrophic Lateral Sclerosis Drug Candidates

Samuel Oluwaseun Ogunleye, Toheeb Olabisi Adeyeye, Ifeoluwa Elizabeth Aderibigbe, Toluwase Hezekiah Fatoki   +3 more
openalex   +1 more source

Pioglitazone Ameliorates Mitochondrial Oxidative Stress and Inflammation via AMPK‐Dependent Inhibition of Mitochondrial Fission in Leigh Syndrome

Cell Proliferation, EarlyView.
Pioglitazone suppresses mitochondrial excessive ROS generation and COX‐2 level through inhibition of Drp‐1 mediated mitochondrial fission in an AMPK‐dependent manner in LS. ABSTRACT Loss of function mutations of NDUFS4 resulted in Leigh syndrome, which is a progressive neurodegenerative disease and characterized by mitochondrial oxidative stress ...
Jie Luo, Ling Chen, Xiaoxian Zhang, Qiang Su, Xiaoya Zhou, Qizhou Lian   +5 more
wiley   +1 more source

Traumatic Brain Injury and Risk of Amyotrophic Lateral Sclerosis.

JAMA Netw Open
Zhu X, Russell ER, Lyall DM, Ho F, Mackay DF, Pell JP, Stewart W.   +6 more
europepmc   +1 more source

Management of Dysarthria in Amyotrophic Lateral Sclerosis. [PDF]

Cells
Pasqualucci E, Angeletti D, Rosso P, Fico E, Zoccali F, Tirassa P, De Virgilio A, de Vincentiis M, Severini C.   +8 more
europepmc   +1 more source

How Amyotrophic Lateral Sclerosis Contributes to Increased Venous Thromboembolism Risk

Abdullah Ashraf Hamad
openalex   +1 more source

Angiopoietin-1 and ανβ3 integrin peptide promote the therapeutic effects of L-serine in an amyotrophic lateral sclerosis/Parkinsonism dementia complex model

, 2018
Huaying Cai, Ke-wei Tian, Yuanyuan Zhang, Hong Jiang, Shu Han   +4 more
openalex   +1 more source

Liquid–Liquid Phase Separation in Major Hallmarks of Cancer

Cell Proliferation, EarlyView.
Aberrant condensates formed through phase separation are involved in the dysregulation of various critical cellular processes, including genome stability, transcriptional regulation and signal transduction, thereby promoting malignant transformation and the acquisition of multiple cancer hallmarks.
Chen‐chen Xie, Ting Wang, Xin‐ran Liu, Yan Wang, Qin Dang, Tian Ding, Jia‐qi Xu, Xian‐jun Yu, Hai Lin, Xiao‐wu Xu, Yi Qin   +10 more
wiley   +1 more source