Results 51 to 60 of about 233,409 (358)

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Choroid plexus enlargement in amyotrophic lateral sclerosis patients and its correlation with clinical disability and blood-CSF barrier permeability

Fluids and Barriers of the CNS
Background Using in vivo neuroimaging techniques, growing evidence has demonstrated that the choroid plexus (CP) volume is enlarged in patients with several neurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease.
Tingjun Dai, Jianwei Lou, Deyuan Kong, Jinyu Li, Qingguo Ren, Yujing Chen, Sujuan Sun, Yan Yun, Xiaohan Sun, Yiru Yang, Kai Shao, Wei Li, Yuying Zhao, Xiangshui Meng, Chuanzhu Yan, Pengfei Lin, Shuangwu Liu   +16 more
doaj   +1 more source

A study on the safety and efficacy of reveglucosidase alfa in patients with late-onset Pompe disease. [PDF]

, 2017
BackgroundLate-onset Pompe disease is a rare genetic neuromuscular disorder caused by lysosomal acid alpha-glucosidase (GAA) deficiency that ultimately results in mobility loss and respiratory failure.
Barohn, Richard, Barshop, Bruce A, Bratkovic, Drago, Byrne, Barry J, Desnuelle, Claude, Geberhiwot, Tarekegn, Haroldsen, Peter, Hughes, Derralynn, Jayaram, Kala, Laforet, Pascal, Mengel, Eugen, POM-001/002 Investigators, Reilley, Kristin, Roberts, Mark, Walsh, Liron, Yang, Ke   +15 more
core   +2 more sources

Actionable Wearables Data for the Neurology Clinic: A Proof‐of‐Concept Tool

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Wearable devices can monitor key health and fitness domains. In multiple sclerosis (MS), monitoring step count and sleep is feasible, valid, and offers a holistic glimpse of patient functioning and worsening. However, data generated from wearables are typically unavailable at the point of care.
Nicolette Miller, Ebenezer Chinedu‐Eneh, Jaeleene Wijangco, Kyra Henderson, Nikki Sisodia, Narender Sara, Jennifer Reihm, Shane Poole, Jim Rowson, Chu‐Yueh Guo, Jeffrey M. Gelfand, Valerie J. Block, Riley Bove   +12 more
wiley   +1 more source

Non-neural phenotype of spinal and bulbar muscular atrophy: Results from a large cohort of Italian patients [PDF]

, 2016
Objective: To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA). Methods: 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal ...
Angelini, Lorenzo, Bello, Luca, Bertolin, Cinzia, Briani, Chiara, Caretta, Nicola, Corrado, Domenico, da Re, Elisa, Ermani, Mario, Ferlin, Alberto, Foresta, Carlo, Gaiani, Alessandra, Galasso, Giuliana, Iafrate, Massimo, Mandrioli, Jessica, Mariotti, Caterina, Massa, Roberto, Mazzini, Letizia, Palmieri, Arianna, Pareyson, Davide, Pegoraro, Elena, Pennuto, Maria, Pennuto, Maria, Petrucci, Antonio, Polo, Alberto, Querin, Giorgia, Ricci, Giulia, Romito, Silvia, Sagnelli, Anna, Sartori, Leonardo, Scarpelli, Mauro, Semplicini, Claudio, Siciliano, Gabriele, Silani, Vincenzo, Silvano, Maria, Soraru', Gianni, Tonin, Paola, Volpe, Marco, Zara, Gabriella   +37 more
core   +1 more source

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte, Berta Estévez‐Arias, Leslie Matalonga, Delia Yubero, Anna Codina, Carlos Ortez, Julita Medina, Lidia DeSena DeCabo, Laura Carrera‐García, Jesica Expósito‐Escudero, Cristina Jou, Eduardo F. Tizzano, Andres Nascimento, Daniel Natera‐de Benito   +13 more
wiley   +1 more source

Health-related quality of life and functional changes in DMD:A 12-month longitudinal cohort study [PDF]

, 2016
Family caregivers of people with amyotrophic lateral sclerosis (ALS) live stressful lives in which they spend most of their time caring for their loved ones and managing difficult situations, thereby reducing the time spent in taking care of themselves ...
Baranello, G, Barcellona, C, Berardinelli, A., Bertini, E, Bruno, C, D\u2019Amico, A, D\u2019Angelo, M. G., Distefano, M. G., La Rosa, M, Marcato, S, Mazzone, E, Mercuri, E., Messina, S, Minetti, C, Mongini, T, Morandi, L, Palmieri, Arianna, Pane, M, Pegoraro, Elena, Politano, L, Rodolico, C, Scutifero, M, Sframeli M., Mondello S, Vita G., L, Vita, E   +24 more
core   +1 more source

BCS1L‐Associated Disease: 5′‐UTR Variant Shifts the Phenotype Towards Axonal Neuropathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives To investigate the consequences of a pathogenic missense variant (c.838C>T; p.L280F) and a 5′‐UTR regulatory variant (c.‐122G>T) in BCS1L on disease pathogenesis and to understand how regulatory variants influence disease severity and clinical presentation.
Rotem Orbach, Nunziata Maio, Russell J. Butterfield, A. Reghan Foley, Sarah Silverstein, Yan Li, Katherine Chao, Tanya J. Lehky, Abigail Potticary, Tracey A. Rouault, Sandra Donkervoort, Carsten G. Bönnemann   +11 more
wiley   +1 more source

A New Case of Autosomal-Dominant POLR3B-Related Disorder: Widening Genotypic and Phenotypic Spectrum

Brain Sciences, 2023
POLR3B encodes the RPC2 subunit of RNA polymerase III. Pathogenic variants are associated with biallelic hypomyelinating leukodystrophy belonging to the POLR-related disorders.
Vito Luigi Colona, Enrico Bertini, Maria Cristina Digilio, Adele D’Amico, Antonio Novelli, Stefano Pro, Elisa Pisaneschi, Francesco Nicita   +7 more
doaj   +1 more source