Results 61 to 70 of about 11,333 (226)

Altered SYNJ2BP-mediated mitochondrial-ER contacts in motor neuron disease

Neurobiology of Disease, 2022
Synaptojanin 2 binding protein (SYNJ2BP) is an outer mitochondrial membrane protein with a cytosolic PDZ domain that functions as a cellular signaling hub. Few studies have evaluated its role in disease.
Naemeh Pourshafie, Ester Masati, Amber Lopez, Eric Bunker, Allison Snyder, Nancy A. Edwards, Audrey M. Winkelsas, Kenneth H. Fischbeck, Christopher Grunseich   +8 more
doaj   +1 more source

Hypospadias as a novel feature in spinal bulbar muscle atrophy [PDF]

, 2016
Spinal and bulbar muscle atrophy (SBMA) is an X-linked neuromuscular disorder caused by CAG repeat expansions in the androgen receptor (AR) gene.
Almqvist, C., Frisén, L., Nordenskjöld, A., Nordenström, A., Nordenvall, A.S., Paucar, M.   +5 more
core   +1 more source

Current Status of Treatment of Spinal and Bulbar Muscular Atrophy

Neural Plasticity, 2012
Spinal and bulbar muscular atrophy (SBMA) is the first member identified among polyglutamine diseases characterized by slowly progressive muscle weakness and atrophy of the bulbar, facial, and limb muscles pathologically associated with motor neuron loss
Fumiaki Tanaka, Masahisa Katsuno, Haruhiko Banno, Keisuke Suzuki, Hiroaki Adachi, Gen Sobue   +5 more
doaj   +1 more source

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS) [PDF]

, 2010
Background: Amyotrophic lateral sclerosis (ALS), a common late-onset neurodegenerative disease, is associated with fronto-temporal dementia (FTD) in 3-10% of patients.
Adrian Higginbottom, Alice Brockington, Andrew J. Grierson, Christine E. Burness, Emily F. Goodall, Hannah C. Hollinger, Heather Mortiboys, Janine Kirby, Judith A. Hartley, Karen E. Morrison, Laura E. Cox, Laura Ferraiuolo, Mark R. Cookson, Pamela J. Shaw, Paul G. Ince, Paul R. Heath, Stephen B. Wharton   +16 more
core   +4 more sources

Onasemnogene Abeparvovec in Type I Spinal Muscular Atrophy: 24‐Month Follow‐Up From the Italian Registry

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Onasemnogene abeparvovec (OA) is an AAV9‐based gene therapy for spinal muscular atrophy type I (SMA I). Real‐world outcomes show increased response variability compared to clinical trials, and follow‐up data beyond 12–18 months are limited.
Marika Pane, Giorgia Coratti, Chiara Cutrì, Antonio Varone, Riccardo Masson, Adele D'Amico, Valeria Sansone, Sonia Messina, Federica Ricci, Chiara Ticci, Claudio Bruno, Caterina Agosto, Francesca Benedetti, Antonella Pini, Sabrina Siliquini, Massimiliano Filosto, Alberto Zambon, Ilaria Bitetti, Maria Rosaria Manna, Claudia Dosi, Riccardo Zanin, Stefano Parravicini, Roberto De Sanctis, Giulia Stanca, Michela Catteruccia, Michele Tosi, Irene Mizzoni, Emilio Albamonte, Valentina Franchino, Maria Sframeli, Ilaria Cavallina, Elena Procopio, Michele Sacchini, Simone Morando, Noemi Brolatti, Federica Trucco, Gaia Scarpini, Elena Briganti, Beatrice Berti, Concetta Palermo, Daniela Leone, Stefano C. Previtali, Eugenio Mercuri, the ITASMAC working group   +43 more
wiley   +1 more source

Brown-Vialetto-Van Laere syndrome [PDF]

, 2008
The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural deafness. Fifty-eight cases have been reported in just over 100 years.
Sivakumar Sathasivam
core   +1 more source

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

Disrupting SUMOylation enhances transcriptional function and ameliorates polyglutamine androgen receptor-mediated disease. [PDF]

, 2015
Expansion of the polyglutamine (polyQ) tract within the androgen receptor (AR) causes neuromuscular degeneration in individuals with spinobulbar muscular atrophy (SBMA).
Chua, Jason P, Giorgetti, Elisa, Higgins, Jake, Iñiguez-Lluhí, Jorge A, Lieberman, Andrew P, McEachin, Richard C, Merry, Diane E, Montie, Heather L, Mukherjee, Sarmistha, Reddy, Satya L, Robins, Diane M, Yu, Zhigang   +11 more
core   +3 more sources

Distinct Prescription Patterns Emerge Years Before ALS Diagnosis: A Nationwide Registry‐Based Study

Annals of Neurology, EarlyView.
Objective The prodromal phase of amyotrophic lateral sclerosis (ALS) is poorly defined. We aimed to characterize prescription drug use patterns in the pre‐diagnostic period by analyzing nationwide prescription data to identify the earliest divergence between individuals who developed ALS and matched healthy controls.
Magne Haugland Solheim, Trond Riise, Marianna Cortese, Ola Nakken, Ole‐Bjørn Tysnes, Jannicke Igland, Kjetil Bjornevik   +6 more
wiley   +1 more source

Kennedy’s Disease – Current State Of Knowledge

Quality in Sport
Introduction: Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy’s disease, is a rare X-linked neuromuscular disorder primarily affecting lower motor neuron.
Gabriela Helena Dąbrowska, Anna Centkowska, Natalia Katarzyna Wagner-Bieleń, Martyna Zwierzchowska, Agata Antoniak, Anna Maria Jocz, Joanna Karina Banaśkiewicz, Aleksandra Maria Żyta, Maria Anna Żmijewska, Jakub Ziółkowski   +9 more
doaj   +1 more source