Results 131 to 140 of about 11,333 (226)

DNA methylation inhibitor attenuates polyglutamine‐induced neurodegeneration by regulating Hes5

EMBO Molecular Medicine, 2019
Spinal and bulbar muscular atrophy (SBMA) is a polyglutamine‐mediated neuromuscular disease caused by a CAG repeat expansion in the androgen receptor (AR) gene.
Naohide Kondo, Genki Tohnai, Kentaro Sahashi, Madoka Iida, Mayumi Kataoka, Hideaki Nakatsuji, Yutaka Tsutsumi, Atsushi Hashizume, Hiroaki Adachi, Haruki Koike, Keiko Shinjo, Yutaka Kondo, Gen Sobue, Masahisa Katsuno   +13 more
doaj   +1 more source

Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study [PDF]

, 2017
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal α-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA ...
Auer-Grumbach, Michaela, Baets, Jonathan, De Jonghe, Peter, De Vriendt, Els, Deconinck, Tine, Dierick, Ines, Fischer, Dirk, Helderman-van den Enden, A. T. J. M., Irobi, Joy, Jacobs, An, Jordanova, Albena, Kochanski, Andrzej, Mazanec, Radim, Merlini, Luciano, Mitrovic, Zoran, Morales, Raul Juntas, Nelis, Eva, Rasic, Vedrana Milic, Robberecht, Wim, Seeman, Pavel, Timmerman, Vincent, Van den Bergh, Peter, Wokke, John H. J.   +22 more
core  

Restoration from polyglutamine toxicity after free electron laser irradiation of neuron-like cells [PDF]

, 2019
学位記番号 ...
Mohara, Miho, モハラ, ミホ, 茂原, 美穂   +2 more
core  

Significance of Dynamic Imaging in Diagnosis of Hirayama Disease: A Rare Case Report and Literature Review [PDF]

, 2020
Acosta, Natasha, Kandukuri, Gautham
core   +2 more sources

Nusinersen for children with type I spinal muscular atrophy: 4 years’ clinical experience in Turkish cohort

Frontiers in Neurology
BackgroundSMA Type 1 is the most severe form of spinal muscular atrophy with early symptom onset, limited motor development, and poor prognosis. Recent genetic-based therapies, such as nusinersen, have transformed disease outcomes.
Ömer Bektaş, Murat Gülşen, Onur Burak Dursun, Ahmet Tekin, Deniz Yüksel, Ercan Demir, Gülten Öztürk, Sema Saltık, Özlem Hergüler, Ayşe Aysima Özçelik, Hüseyin Tan, Bilge Özgör, Arzu Ekici, Merve Feyza Yüksel, Süleyman Şahin, Özgür Duman, Mustafa Kömür, Figen Baydan, Edibe Pembegül Yıldız, Bülent Kara, Uluç Yiş, Seda Kanmaz, Kürşat Bora Çarman, Elif Acar Arslan, Mehmet Canpolat, Ahmet Sami Güven, Gökçen Öztuncer, Aycan Ünalp, Didem Ardıçlı, Aynur Ayşe Karaduman, Gökmen Zararsız, Gülhis Deda, Turkish SMA Study Group, Ömer Bektaş, Murat Gülşen, Onur Burak Dursun, Ahmet Tekin, Deniz Yüksel, Ercan Demir, Gülten Öztürk, Sema Saltık, Özlem Hergüler, Ayşe Aysima Özçelik, Hüseyin Tan, Bilge Özgör, Arzu Ekici, Merve Feyza Yüksel, Süleyman Şahin, Özgür Duman, Mustafa Kömür, Figen Baydan, Edibe Pembegül Yıldız, Bülent Kara, Uluç Yiş, Seda Kanmaz, Kürşat Bora Çarman, Elif Acar Arslan, Mehmet Canpolat, Ahmet Sami Güven, Gökçen Öztuncer, Aycan Ünalp, Didem Ardıçlı, Aynur Ayşe Karaduman, Gökmen Zararsız, Nurşah Yeniay Süt, Olcay Ünver, Tuğçe Damla Dilek, Eif Yıldırım, Faruk İncecik, Meral Karadağ, Mehmet Fatih Bütün, Burçin Gönüllü Polat, Yiğithan Güzin, Mehmet Akif Kılıç, Adnan Deniz, Gamze Sarıkaya Uzan, Sanem Yılmaz Keskin, Fatih M. Özdemir, Coşkun Yarar, Nihal Yıldız, Hamit Acer, Hüseyin Çaksen, Seren Aydın, Pakize Karaoğlu, Ayşe Neşe Çıtak, Tanıl Kendirli, Birkan Sonel Tur, Gülcan Akyüz, Ceren Bibinoğlu Amirov, Gülen Gül Mert, Mahmut Aslan, Şenay Haspolat, Özlem Ersoy, Osman Kipoğlu, Defne Alikılıç, Hasan Tekgül, Ülkühan Kaya, Arife Derda Yücel Şen, Pınar Özkan Kart, Hüseyin Per, Ayşe Aksoy, Ünsal Yılmaz, Serap Teber, Özben Akıncı Göktaş, Dilşad Türkdoğan, Fitnat Uluğ, Serap Bilge, Orhan Coşkun, Merve Öztürk, Esra Atmaca, Ali Cansu, Hakan Gümüş, Evrim Karadağ Saygı, Ömer Karaca, Serdal Güngör, Nazan Çobanoğlu, Melek Sezgin, Miraç Yıldırım, Yasemin Gökdemir, Esma Şengenç, Yılmaz Zindar, Özlem Yayıcı, Serkan Köken, Mesut Güngör, Serkan Kırık, Meltem Çobanoğulları Direk, Gülhis Deda   +126 more
doaj   +1 more source

Dominantly Inherited Amyotrophic Lateral Sclerosis (Motor Neuron Disease) [PDF]

, 1977
The term amyotrophic lateral sclerosis was first introduced by Charcot to describe cases with mixed upper and lower motor neuron signs without sensory impairment. Later the syndromes of progressive bulbar palsy (PBP) and progressive muscular atrophy (PMA)
Myer, Edwin C., Nance, Walter E., Wilkins, Louise E., Winter, Robin M.   +3 more
core   +1 more source

Molecular-targeted therapy for spinal and bulbar muscular atrophy (SBMA)

Rinsho Shinkeigaku, 2010
Spinal and bulbar muscular atrophy (SBMA) is an adult-onset neurodegenerative disease characterized by slowly progressive muscle weakness and atrophy. The cause of SBMA is the expansion of a trinucleotide CAG repeat, which encodes the polyglutamine tract, within the first exon of the androgen receptor (AR) gene.
openaire   +3 more sources

Patient-Reported Impact of Symptoms in Spinal and Bulbar Muscular Atrophy. [PDF]

Neurol Clin Pract, 2023
Alqahtani A, Kokkinis A, Zizzi C, Dilek N, Fischbeck KH, Heatwole CR, Grunseich C.   +6 more
europepmc   +1 more source

The value of serum creatinine as biomarker of disease progression in spinal and bulbar muscular atrophy (SBMA). [PDF]

Sci Rep, 2023
Blasi L, Sabbatini D, Fortuna A, Querin G, Martinelli I, Vianello S, Bertolin C, Pareyson D, Pennuto M, Pegoraro E, Bello L, Sorarù G.   +11 more
europepmc   +1 more source

Development of a functional composite for the evaluation of spinal and bulbar muscular atrophy. [PDF]

Sci Rep, 2022
Inagaki T, Hashizume A, Hijikata Y, Yamada S, Ito D, Kishimoto Y, Torii R, Sato H, Hirakawa A, Katsuno M.   +9 more
europepmc   +1 more source