Results 61 to 70 of about 148,459 (298)

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

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

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

Association between muscular atrophy and mortality risk in patients with COPD: a systematic review

Therapeutic Advances in Respiratory Disease
Background: Muscular atrophy often can be seen at the end of stage in many chronic diseases. It will also negatively influence patients’ outcomes. Different studies showed that the association between muscular atrophy and mortality in patients with ...
Wenyan Li, Ying Wu, Xun Yang, Jing Zhu, Mei Feng, Rong Deng, Cui Yang, Chengcheng Sun   +7 more
doaj   +1 more source

ALS With and Without Upper Motor Neuron Signs: A Comparative Study Supporting the Gold Coast Criteria

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The Gold Coast criteria permit diagnosis of amyotrophic lateral sclerosis (ALS) even without upper motor neuron (UMN) signs. However, whether ALS patients with UMN signs (ALSwUMN) and those without (ALSwoUMN) share similar characteristics and prognoses remains unclear.
Hee‐Jae Jung, E‐nae Cheong, Jungmin So, Heung‐Won Kang, Yangsean Choi, Eun‐Jae Lee, Hyunjin Kim, Young‐Min Lim   +7 more
wiley   +1 more source

Cutaneous Phosphorylated Alpha‐Synuclein in Lewy Body Dementia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To determine the test performance of cutaneous phosphorylated alpha‐synuclein (P‐SYN) in dementia with Lewy bodies (DLB), individuals with reduced Montreal Cognitive Assessment (MoCA) and healthy controls. Methods This is the first subgroup analysis of the Synuclein‐One study, a prospective, blinded study evaluating P‐SYN detection ...
Christopher H. Gibbons, Todd Levine, Charles H. Adler, Bailey Bellaire, Ningshan Wang, Pinky Agarwal, Georgina M. Aldridge, Alexandru Barboi, Daniel Claassen, Virgilio G. H. Evidente, Douglas Galasko, Alejandra Gonzalez‐Duarte, Ramon Gil, Mark Gudesblatt, Stuart H. Isaacson, Horacio Kaufmann, Pravin Khemani, Rajeev Kumar, Guillaume Lamotte, Andy J. Liu, Nikolaus R. McFarland, Mitchell G. Miglis, Adam Reynolds, Gregory A. Sahagian, Marie‐Helene Saint‐Hilaire, Julie B. Schwartzbard, Wolfgang Singer, Michael J. Soileau, Steven Vernino, Patricio Millar Vernetti, Oleg Yerstein, Roy Freeman   +31 more
wiley   +1 more source

Nusinersen versus sham control in later-onset spinal muscular atrophy [PDF]

New England Journal of Medicine, 2018
Connolly, A. M., et al,
core   +3 more sources

The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development [PDF]

, 2015
Despite multiple publications on potential therapies for neuromuscular diseases (NMD) in cell and animal models only a handful reach clinical trials. The ability to prioritise drug development according to objective criteria is particularly critical in ...
Allen, Hugh, Bourke, John, Burghes, Arthur, Bushby, Kate, Buyse, Gunnar, Caizergues, Didier, Catlin, Nick, Clemens, Paula, Cnaan, Avital, Comi, Giacomo, Connor, Edward, Csimma, Cristina, Day, Simon, de Luca, Annamaria, de Montleau, Béatrice, de Visser, Marianne, Dittrich, Sven, Dubrosky, Alberto, Eagle, Michelle, Finkel, Richard, Fishbeck, Kenneth, Flanigan, Kevin M., Furlong, Patricia, Grounds, Miranda, Hauschke, Dieter, Heslop, Emma, Hesterlee, Sharon, Hoffman, Eric, Irwin, Joseph, Jarecki, Jill, Kaufmann, Petra, Kelly, Michael, Korinthenberg, Rudolf, Laforêt, Pascal, Larkindale, Jane, Lovering, Richard, Mayer, Henry, McCall, John, McDonald, Robert, McNally, Elizabeth, McNeil, Dawn Elizabeth, McNeil, Elizabeth, Mendell, Jerry, Miller, Debra, Nagaraju, Kanneboyina, North, Kathryn, Ouillade, Marie-Christine, Straub, Volker, Wagner, Kathryn R., Wells, Dominic J.   +49 more
core   +4 more sources

Immune‐Driven Expression in Inclusion Body Myositis With T‐Cell Large Granular Lymphocytic Leukemia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives T‐cell large granular lymphocytic leukemia (T‐LGLL), reported in up to 58% of inclusion body myositis (IBM) patients, is a rare leukemia of cytotoxic or less commonly helper T cells. The range of myopathies in T‐LGLL and the impact of coexisting T‐LGLL in IBM are not well understood. Our objectives are to investigate the spectrum of
Pannathat Soontrapa, Iago Pinal‐Fernandez, Pritikanta Paul, Michael P. Skolka, Margherita Milone, Min Shi, Mithun V. Shah, Maria Casal‐Dominguez, Katherine Pak, Andrew L. Mammen, Teerin Liewluck   +10 more
wiley   +1 more source

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source