Results 111 to 120 of about 45,438 (256)

Early and Progressive Spinal Cord Atrophy in Spinocerebellar Ataxia Type 1

Movement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia type 1 (SCA1) is a rare, autosomal dominant neurodegenerative disorder characterized by progressive cerebellar and brainstem degeneration. Previous studies have shown that spinal cord atrophy is also a key aspect of SCA1 neuropathology.
Colette J.M. Reniers, Teije H. van Prooije, Kirsten C.J. Kapteijns, Jack J.A. van Asten, Caterina Mariotti, Lidia Sarro, Anna Nigri, Marina Grisoli, Giulia Coarelli, Alexandra Durr, Tom Scheenen, Bart van de Warrenburg   +11 more
wiley   +1 more source

Gray Matter Microstructure Measured Using Diffusion Imaging as a Biomarker of Severity in Lewy Body Diseases

Movement Disorders, EarlyView.
Abstract Background Despite widespread cortical involvement in Lewy body diseases, conventional gray matter magnetic resonance imaging (MRI) shows limited sensitivity. Diffusion‐weighted MRI‐derived microstructural measures have shown utility in Alzheimer's disease, but their application across the Lewy body disease spectrum remains limited ...
Angeliki Zarkali, Ivelina Dobreva, Naomi Hannaway, Rohan Bhome, George E.C. Thomas, Steffani Carrera, Amanda J. Heslegrave, Elena Veleva, Henrik Zetterberg, Rimona S. Weil   +9 more
wiley   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

The Flail Limb Syndrome

Muscle &Nerve, EarlyView.
ABSTRACT The flail limb syndrome is primarily a lower motor neuron disorder that initially affects proximal arm muscles (flail arm syndrome—FAS) or distal leg muscles (flail leg syndrome—FLS). Both were recognized early on (1886 for FAS and 1918 for FLS) as somewhat distinct from classic amyotrophic lateral sclerosis (ALS).
Mark B. Bromberg
wiley   +1 more source

Behavioral barriers in the management of spinal muscular atrophy: The role of procrastination, regret, and burnout. [PDF]

PLoS One
Maurino J, Carrera-García L, Castro-Fernández P, Málaga I, Nascimento A, Saposnik G.   +5 more
europepmc   +1 more source

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, EarlyView.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil. [PDF]

Genet Mol Biol
Oliveira Netto AB, Hentschke-Lopes M, Pasetto FB, Anjos TARD, Andrade GS, Sousa MIA, Moraes IDS, Trapp FB, Brusius-Facchin AC, Saute JAM, Becker MM, Coutinho VLS, Vilella-Arias S, Ponci V, França Junior MC, Galera MF, Amorim T, Giugliani R.   +17 more
europepmc   +1 more source

Feline Spinal Muscular Atrophy [PDF]

Pediatric Research, 2005
openaire   +2 more sources

Neuroprotective effects of ursodeoxycholic acid in Parkinson's disease and Alzheimer's disease

Neuroprotection, EarlyView.
In Parkinson's disease (PD) and Alzheimer's disease (AD), various shared pathological mechanisms exist. UDCA has been shown to exert neuroprotective effects in preclinical and clinical studies. Such effects include the mitigation of neuroinflammation as well as rescue effects on mitochondrial dysfunction, oxidative stress, impaired autophagy, and ...
Ashley En Yi Chong, Andrew Octavian Sasmita, Rhun Yian Koh, Anna Pick Kiong Ling   +3 more
wiley   +1 more source

Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation

Neuroprotection, EarlyView.
Abstract Prime editing, a novel clustered regularly interspaced short palindromic repeats (CRISPR)‐based technology, fuses a reverse transcriptase (RT) to an engineered CRISPR‐associated protein 9 (Cas9) and uses a prime editing guide RNA (pegRNA)‐encoded template.
Tianshan Ji, Yuan Zhang, Jinyi Zhao, Yiping Lu, Chengkun Wang   +4 more
wiley   +1 more source