Results 141 to 150 of about 160,996 (342)

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALS

Nature Communications
Mutations in FUS and TARDBP cause amyotrophic lateral sclerosis (ALS), but the precise mechanisms of selective motor neuron degeneration remain unresolved.
Christoph Schweingruber, Jik Nijssen, Jonas Mechtersheimer, Stefan Reber, Mélanie Lebœuf, Niamh L. O’Brien, Irene Mei, Erin Hedges, Michaela Keuper, Julio Aguila Benitez, Vlad Radoi, Martin Jastroch, Marc-David Ruepp, Eva Hedlund   +13 more
doaj   +1 more source

Boldine as a neuroprotective agent against motor neuron degeneration in models of amyotrophic lateral sclerosis

Frontiers in Cellular Neuroscience
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by motor neuron loss. Current FDA-approved treatments offer only modest benefits.
Carlos A. Toro, Carlos A. Toro, Carlos A. Toro, Wei Zhao, Wei Zhao, Patricio Garcia Silva, Daniela Retamal-Santibáñez, Fabiola Rojas, Jiangping Pan, Jiangping Pan, Nicholas Johnson, Nicholas Johnson, Yorley Duarte, Yorley Duarte, Christopher P. Cardozo, Christopher P. Cardozo, Christopher P. Cardozo, Juan C. Sáez, Brigitte van Zundert, Brigitte van Zundert, Brigitte van Zundert   +20 more
doaj   +1 more source

Adult expression of Semaphorins and Plexins is essential for motor neuron survival

, 2023
Aarya Vaikakkara Chithran, Douglas W. Allan, Timothy P. O’Connor   +2 more
openalex   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

TGS1 impacts snRNA 3'-end processing, ameliorates survival motor neuron-dependent neurological phenotypes in vivo and prevents neurodegeneration. [PDF]

Nucleic Acids Res, 2022
Chen L, Roake CM, Maccallini P, Bavasso F, Dehghannasiri R, Santonicola P, Mendoza-Ferreira N, Scatolini L, Rizzuti L, Esposito A, Gallotta I, Francia S, Cacchione S, Galati A, Palumbo V, Kobin MA, Tartaglia GG, Colantoni A, Proietti G, Wu Y, Hammerschmidt M, De Pittà C, Sales G, Salzman J, Pellizzoni L, Wirth B, Di Schiavi E, Gatti M, Artandi SE, Raffa GD.   +29 more
europepmc   +1 more source

Analysis of mutations in the tudor domain of the survival motor neuron protein SMN [PDF]

, 1999
Payam Mohaghegh, Nanda R. Rodrigues, Nicholas Owen, Chris P. Ponting, Thanh T. Le, Arthur H.M. Burghes, Kay E. Davies   +6 more
openalex   +1 more source

Effectiveness and Safety of Nusinersen and Risdiplam in Spinal Muscular Atrophy: A Systematic Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinal Muscular Atrophy (SMA) is a rare genetic disorder marked by progressive muscle weakness and mobility loss. It has a profound physical, emotional and social impact on patients and caregivers, requiring comprehensive medical and supportive care.
Amin Mehrabian, Peter Auguste, Amy Grove, Anna Brown, Janette Parr, Mubarak Patel, Furqan Butt, Jeremiah Donoghue, Mehdi Yousefi, Jo Parsons   +9 more
wiley   +1 more source

ATH-1105, a small-molecule positive modulator of the neurotrophic HGF system, is neuroprotective, preserves neuromotor function, and extends survival in preclinical models of ALS

Frontiers in Neuroscience
IntroductionAmyotrophic lateral sclerosis (ALS), a progressive and fatal neurodegenerative disorder, primarily affects the motor neurons of the brain and spinal cord.
Andrée-Anne Berthiaume, Sherif M. Reda, Kayla N. Kleist, Sharay E. Setti, Wei Wu, Jewel L. Johnston, Robert W. Taylor, Liana R. Stein, Hans J. Moebius, Kevin J. Church   +9 more
doaj   +1 more source

Comprehensive In Silico Analysis of Retrotransposon Insertions within the Survival Motor Neuron Genes Involved in Spinal Muscular Atrophy. [PDF]

Biology (Basel), 2022
Pinto A, Cunha C, Chaves R, Butchbach MER, Adega F.   +4 more
europepmc   +1 more source