Results 81 to 90 of about 9,606,287 (373)

Late-Onset Pompe Disease with Nemaline Bodies

Case Reports in Neurological Medicine, 2018
Pompe disease is an autosomal recessive disorder characterized by deficiency of alpha-glucosidase, a lysosomal enzyme, which can lead to glycogen accumulation in skeletal muscle, heart, and nervous system.
E. Frezza, C. Terracciano, M. Giacanelli, E. Rastelli, G. Greco, R. Massa   +5 more
doaj   +1 more source

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. [PDF]

, 2015
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with ...
Barohn, R.J., Bettencourt, C., Brady, S., De Bleecker, J., De Paepe, B., Dimachkie, M.M., Fox, Z., Gang, Q., Hanna, M.G., Healy, E., Hilton-Jones, D., Holton, J.L., Houlden, H., Machado, P.M., Mantegazza, R., Mastaglia, F., Moggio, M., Mora, M., Needham, M., Parton, M., Ripolone, M., Shaibani, A., Shieh, P.B., Violano, R., Zanoteli, E., Zanotti, S.   +25 more
core   +1 more source

Recent Advances in Antisense Oligonucleotide Therapy in Genetic Neuromuscular Diseases

Annals of Indian Academy of Neurology, 2018
Genetic neuromuscular diseases are caused by defective expression of nuclear or mitochondrial genes. Mutant genes may reduce expression of wild-type proteins, and strategies to activate expression of the wild-type proteins might provide therapeutic ...
A. Verma
semanticscholar   +1 more source

Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan, John R. Mills, Paulina Vargas, Naveen K. Paramasivan, Connie E. Lesnick, Eati Basal, Surendra Dasari, James P. Fryer, Shannon R. Hinson, Joseph Laporta, Amy Espinal, Dennis Fitzgerald, Carolina Garcia, Anna E. Morenkova, Paola Pergami, Anna Shah, Andrew Knight, Reghann LaFrance Corey, Vanda A. Lennon, Anastasia Zekeridou, Sean J. Pittock, Divyanshu Dubey, Andrew McKeon   +22 more
wiley   +1 more source

A multicenter cross-sectional French study of the impact of COVID-19 on neuromuscular diseases

Orphanet Journal of Rare Diseases, 2021
Background Due to their health condition, patients with neuromuscular diseases (NMD) are at greater risk of developing serious complications with COVID-19.
Lucie Isoline Pisella, Sara Fernandes, Guilhem Solé, Tanya Stojkovic, Céline Tard, Jean-Baptiste Chanson, Françoise Bouhour, Emmanuelle Salort-Campana, Guillemette Beaudonnet, Louise Debergé, Fanny Duval, Aude-Marie Grapperon, Marion Masingue, Aleksandra Nadaj-Pakleza, Yann Péréon, Frédérique Audic, Anthony Behin, Diane Friedman, Armelle Magot, Jean-Baptiste Noury, Sarah Souvannanorath, Karim Wahbi, Jean-Christophe Antoine, Kévin Bigaut, Jean-Philippe Camdessanché, Pascal Cintas, Rabab Debs, Caroline Espil-Taris, Laurent Kremer, Thierry Kuntzer, Pascal Laforêt, Vincent Laugel, Martial Mallaret, Maud Michaud, Sylvain Nollet, Juliette Svahn, Savine Vicart, Rocio Nur Villar-Quiles, Isabelle Desguerre, David Adams, Sandrine Segovia-Kueny, Géraldine Merret, Elhadi Hammouda, Annamaria Molon, Shahram Attarian   +44 more
doaj   +1 more source

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Determining the burden of the family caregivers of people with neuromuscular diseases who use a wheelchair

Medicine, 2018
The present study provides a basic outline of the care and support that family caregivers offer to people affected by neuromuscular diseases. To determine the presence of burden in caregivers of people with neuromuscular diseases who use a wheelchair and
Thais Pousada, Betania Groba, Laura Nieto-Riveiro, A. Pazos, E. Díez, Javier Pereira   +5 more
semanticscholar   +1 more source

Olink Proteomics Analysis Reveals Heterogeneous Responses to FcRn Blockade in Anti‐AChR Antibody‐Positive Myasthenia Gravis: FGF‐19 as a Novel Biomarker

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aimed to systematically observe the clinical manifestations, immune cell subsets, and dynamic changes in serological indicators in patients with myasthenia gravis (MG) before and after efgartigimod (EFG) treatment. Methods We analyzed the baseline data, laboratory parameters, and lymphocyte subset proportions in MG ...
Tiancheng Luo, Deyou Peng, Zhouao Zhang, Mingjin Yang, Xinyan Guo, Tianyu Ma, Xiaoyu Huang, Mingming Xu, Linlin Fu, Yong Zhang   +9 more
wiley   +1 more source

Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models

Scientific Reports, 2021
Individuals who have Down syndrome (caused by trisomy of chromosome 21), have a greatly elevated risk of early-onset Alzheimer’s disease, in which amyloid-β accumulates in the brain. Amyloid-β is a product of the chromosome 21 gene APP (amyloid precursor
Justin L. Tosh, Elena R. Rhymes, Paige Mumford, Heather T. Whittaker, Laura J. Pulford, Sue J. Noy, Karen Cleverley, LonDownS Consortium, Matthew C. Walker, Victor L. J. Tybulewicz, Rob C. Wykes, Elizabeth M. C. Fisher, Frances K. Wiseman   +12 more
doaj   +1 more source

Practical Guide to Management of Long-Term Noninvasive Ventilation for Adults With Chronic Neuromuscular Disease [PDF]

, 2023
John Hansen‐Flaschen, Jason Ackrivo
openalex   +1 more source