Results 81 to 90 of about 1,166,632 (295)

Onasemnogene Abeparvovec in Patients With SMA: Interim Results of the RESTORE Registry in Japan

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective There are limited real‐world data regarding the safety and effectiveness of onasemnogene abeparvovec (OA; Zolgensma) infusion, a one‐time gene replacement therapy, for Japanese patients with spinal muscular atrophy (SMA). We aimed to improve understanding of the real‐world outcomes for OA in Japan.
Kayoko Saito, Kamal Benguerba, Ken Tsuchida, Kazushige Yazawa, Isao Tsumiyama, Hiromitsu Kayama, Sandra P. Reyna, Farid Khan, Richard S. Finkel   +8 more
wiley   +1 more source

Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs, Marcel Naumann, Annaliis Lehto, Hanna Schön, Jens Kurth, Johannes Prudlo, Andreas Hermann, Elisabeth Kasper   +7 more
wiley   +1 more source

Research opportunities in muscle atrophy [PDF]

, 1984
Muscle atrophy in a weightless environment is studied. Topics of investigation include physiological factors of muscle atrophy in space flight, biochemistry, countermeasures, modelling of atrophied muscle tissue, and various methods of measurement of ...
Talbot, J. M., Herbison, G. J.
core   +2 more sources

Integration of Serum Neurofilament Light Chain and Cortical Dysfunction Improves Diagnostic Accuracy in ALS

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine whether integration of serum neurofilament light chain (NfL) and cortical dysfunction improves diagnostic accuracy in amyotrophic lateral sclerosis (ALS) when applied alongside the Gold Coast criteria (GCC). Methods In this prospective study, 148 participants with suspected ALS were recruited (101 ALS and 47 with ALS ...
Aicee Dawn Calma, Nathan Pavey, Yukiko Tsuji, Amirul Ab Ghapar, Mehdi A.J. van den Bos, Bronwen Orden, Grace Lee, Linda Mekhael, Julie Ryder, Cláudia Santos Silva, David McDonald, Fakhria Kakar, Con Yiannikas, Matthew C. Kiernan, David A. Brown, Parvathi Menon, Steve Vucic   +16 more
wiley   +1 more source

CARM1 and muscle atrophy

, 2021
CARM1 and skeletal muscle atrophyCoactivator-associated arginine methyltransferase 1 (CARM1) is emerging as an important player in skeletal muscle biology.
Stouth, Derek W.
core   +2 more sources

Bi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...
Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner   +25 more
wiley   +1 more source

Digital Cognitive Testing in Mitochondrial Disease: Validity and Challenges for Clinical Trial Use

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Primary mitochondrial disease is a group of genetic disorders caused by pathogenic variants in nuclear or mitochondrial DNA, often resulting in progressive neurodegeneration and cognitive decline. Current management is primarily supportive, though recent research offers hope for disease‐modifying treatments in the future.
Oksana Pogoryelova, Jan Smeitink, Herma Renkema, Rosabeth White, Frankie Barton, Rachel Lyon, Jane Newman, Aye Moe, Yi Shiau Ng, Grainne Siobhan Gorman   +9 more
wiley   +1 more source

Muscle Atrophy and Hypertrophy

, 2018
Muscle atrophy is usually caused by interruption of axonal flow [axonal neuropathies, motor neuron diseases (MNDs), etc.]. If weakness is out of proportion to atrophy, demyelinating neuropathy should be suspected.
Aziz Shaibani
core   +1 more source

Elevated levels of S100A8 and S100A9 exacerbate muscle mitochondrial fragmentation in sepsis-induced muscle atrophy

Communications Biology
Sepsis-induced skeletal muscle atrophy is common in septic patients with the increases risk of mortality and is associated with myocellular mitochondrial dysfunction. Nevertheless, the specific mechanism of sepsis muscle atrophy remains unclear.
Dongqin Huang, Yang Li, Yuqian Guo, Mengcao Weng, Hui Ye, Yan Zhang, Fei Lin, Kai Zhang, Xiangming Fang   +8 more
doaj   +1 more source

Changes in temporal muscle dimensions and their clinical impact in out-of-hospital cardiac arrest survivors

Resuscitation Plus
Objective: This study investigates temporal muscle atrophy in out-of-hospital cardiac arrest patients post-resuscitation, seeking associations with neurological outcomes and factors associated with atrophy. Methods: Using data from six Japanese intensive
Takashi Hongo, Hiromichi Naito, Keibun Liu, Yuya Murakami, Satoshi Nozaki, Hiroki Maeyama, Ayaka Matsuoka, Hisashi Dote, Kazumasa Inaba, Satoshi Miike, Shigeki Fujitani, Tomohiro Hiraoka, Takafumi Obara, Tsuyoshi Nojima, Atsunori Nakao, Tetsuya Yumoto   +15 more
doaj   +1 more source