Results 121 to 130 of about 666,453 (371)

Genome Sequencing Uncovers Additional Findings in Phelan‐McDermid Syndrome

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT Phelan‐McDermid syndrome (PMS) is a genetic condition caused by deletions of chromosome 22q13.3 or pathogenic variants in the SHANK3 gene. Neurologic features typically include intellectual disability, autism spectrum disorder, hypotonia, and absent speech, though there is considerable variability even among individuals with the same molecular
Rachel Gore Moses, Morgan Similuk, Alexandra Hehn, Rylee Duncan, Margaret Pekar, Eliza Gordon‐Lipkin, Maria T. Acosta, Deena Zeltser, Nadjalisse Reynolds‐Lallement, Latha Soorya, Mustafa Sahin, Tess Levy, Alexander Kolevzon, Joseph D. Buxbaum, Elizabeth Berry‐Kravis, Craig M. Powell, Jonathan A. Bernstein, Mari Tokita, Bryce A. Seifert, Rajarshi Ghosh, Magdalena A. Walkiewicz, Audrey Thurm   +21 more
wiley   +1 more source

Simultaneous Combined Myositis, Inflammatory Polyneuropathy, and Overlap Myasthenic Syndrome

Case Reports in Neurological Medicine, 2016
Immune-mediated neuromuscular disorders include pathologies of the peripheral nervous system, neuromuscular junction, and muscles. If overlap syndromes (or the association of almost two autoimmune disorders) are recognized, the simultaneous occurrence of
Stéphane Mathis, Laurent Magy, Philippe Corcia, Karima Ghorab, Laurence Richard, Jonathan Ciron, Mathilde Duchesne, Jean-Michel Vallat   +7 more
doaj   +1 more source

EVIDENCE FOR RECYCLING OF SYNAPTIC VESICLE MEMBRANE DURING TRANSMITTER RELEASE AT THE FROG NEUROMUSCULAR JUNCTION

Journal of Cell Biology, 1973
When the nerves of isolated frog sartorius muscles were stimulated at 10 Hz, synaptic vesicles in the motor nerve terminals became transiently depleted.
J. Heuser, T. Reese
semanticscholar   +1 more source

Neurodevelopmental Phenotyping and Genotyping in the Pediatric National Institute of Health Undiagnosed Disease Program

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The National Institute of Health (NIH) Undiagnosed Diseases Program (UDP) is an NIH project with the goal of providing both a comprehensive diagnosis and a better understanding of the many mechanisms of disease for patients with rare and undiagnosed conditions.
Dee Adedipe, Audrey Thurm, Lisa Joseph, Maria T. Acosta, Ellen F. Macnamara, Colby Chlebowski, Riley Kessler, Precilla D'Souza, Lynne Wolfe, Jean M. Johnson, Tyra Estwick, John Yang, Paul R. Lee, Jennifer Murphy, Camilo Toro, Thomas Markello, Dennis Carter, David R. Adams, William A. Gahl, Cynthia J. Tifft   +19 more
wiley   +1 more source

Familial paroxysmal hypokalaemic paralysis (hypoKPP) [PDF]

, 2020
Case Summary: Demographic Details: Mr. SF, male, South African was referred by his general practitioner A 26-year-old South African gentleman was referred to the Neurology Outpatient department due to occasional episodes of bilateral muscle weakness in ...
Debono, Gabriella
core  

Neuromuscular synaptic transmission in aged ganglioside-deficient mice [PDF]

, 2011
Gangliosides are sialylated glycosphingolipids that are present in high density on neuronal membranes, especially at synapses, where they are assumed to play functional or modulating roles.
Furukawa, K., Furukawa, K., Jacobs, B.C., Plomp, J.J., Todorov, B., Verschuuren, J.J., Willison, H.J., Zitman, F.M.P.   +7 more
core   +1 more source

Muscle specific kinase (MuSK) activation preserves neuromuscular junctions in the diaphragm but is not sufficient to provide a functional benefit in the SOD1G93A mouse model of ALS

Neurobiology of Disease, 2019
Amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting motor neurons, is characterized by rapid decline of motor function and ultimately respiratory failure.
Arundhati Sengupta-Ghosh, Sara L. Dominguez, Luke Xie, Kai H. Barck, Zhiyu Jiang, Timothy Earr, Jose Imperio, Lilian Phu, Hanna G. Budayeva, Donald S. Kirkpatrick, Hao Cai, Jeffrey Eastham-Anderson, Hai Ngu, Oded Foreman, Maj Hedehus, Michael Reichelt, Isidro Hotzel, Yonglei Shang, Richard A.D. Carano, Gai Ayalon, Amy Easton   +20 more
doaj  

Dropped head syndrome due to neuromuscular disease: clinical manifestation and evaluation

Neurology International, 2019
In this article, we discuss the clinical approach to patients with dropped head syndrome and identify the various neuromuscular causes of dropped head syndrome, including muscle, neuromuscular junction, peripheral nerve, and motor neuron etiologies.
Ahmet Burakgazi, Perry Richardson, Mohammad Abu-Rub   +2 more
doaj   +1 more source

The Neuromuscular Junction: Aging at the Crossroad between Nerves and Muscle

Frontiers in Aging Neuroscience, 2014
Aging is associated with a progressive loss of muscle mass and strength and a decline in neurophysiological functions. Age-related neuromuscular junction (NMJ) plays a key role in musculoskeletal impairment that occurs with aging.
M. Gonzalez-Freire, R. de Cabo, S. Studenski, L. Ferrucci   +3 more
semanticscholar   +1 more source

Research advances in dysphagia animal models

Animal Models and Experimental Medicine, EarlyView.
This review systematically summarizes the establishment, evaluation, and detection of dysphagia animal models in stroke, Parkinson's disease (PD), and amyotrophic lateral sclerosis (ALS) in three kinds of experimental animals (including rodents, nonhuman primates, and other mammals), providing a basis for the selection of appropriate animal models of ...
Junhui Bai, Keling Cheng, Nannan Zhang, Yunfang Chen, Jun Ni, Zhiyong Wang   +5 more
wiley   +1 more source