Results 81 to 90 of about 13,652 (256)

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge, Bo Sun, Ruiwu Wang, Arezoo Mohajeri, Clara D. M. Van Karnebeek, Cornelius F. Boerkoel, Stephanie Huynh, Gabriella Horvath, S. R. Wayne Chen, Anna Lehman   +9 more
wiley   +1 more source

Difficulties with differentiating botulinum toxin treatment effects in essential blepharospasm [PDF]

, 2011
Blepharospasm is a focal dystonia in which the extraocular muscles contract repetitively, leading to excessive blinking and forced eyelid closure. Botulinum toxin type A (BoNTA) is the primary symptomatic treatment for blepharospasm and its effects have ...
Bettina Wabbels, Peter Roggenkämper, Wolfgang H. Jost   +2 more
core   +2 more sources

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

Criteria for the diagnosis of corticobasal degeneration [PDF]

, 2013
Current criteria for the clinical diagnosis of pathologically confirmed corticobasal degeneration (CBD) no longer reflect the expanding understanding of this disease and its clinicopathologic correlations.
Armstrong, Melissa J, Bak, Thomas H, Bhatia, Kailash P, Borroni, Barbara, Boxer, Adam L, Dickson, Dennis W, Grossman, Murray, Hallett, Mark, Josephs, Keith A, Kertesz, Andrew, Lang, Anthony E, Lee, Suzee E, Litvan, Irene, Miller, Bruce L, Reich, Stephen G, Riley, David E, Tolosa, Eduardo, Tröster, Alexander I, Vidailhet, Marie, Weiner, William J   +19 more
core   +1 more source

A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education

Clinical Anatomy, EarlyView.
ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley, Brooke Willoughby, Alexandra L. Webb, Natasha A. M. S. Flack, Laura Y. Whitburn   +4 more
wiley   +1 more source

Tyrosine hydroxylase deficiency—Clinical insights and a novel deletion in TH gene in an Indian patient

JIMD Reports, 2020
Tyrosine hydroxylase deficiency is a rare autosomal recessive, treatable disorder of neurotransmission. Fewer than 100 cases have been reported so far. We present a case of a 10‐month‐old infant who was symptomatic since 5 months of age and who received ...
Sunita Bijarnia‐Mahay, Vivek Jain, Beat Thöny   +2 more
doaj   +1 more source

Pain processing in functional and idiopathic dystonia: An exploratory study. [PDF]

, 2018
BACKGROUND: Pain is often experienced by patients with functional dystonia and idiopathic cervical dystonia and is likely to be determined by different neural mechanisms.
Albanese, Aybek, Benedetti, Boccard, Bradley, Bradley, Burke, Charles, Comella, Demartini, Edwards, Edwards, Edwards, Ganos, Garland, Gupta, Hinson, Kimmich, King, Kutvonen, Lobbezoo, Lundberg, Meunier, Morgante, Morgante, Nielsen, Petrovic, Pollatos, Ramos, Ricciardi, Scontrini, Stamelou, Tinazzi, Tinazzi, Tracey, Voon, Voon, Voon, Weiss, Zambito Marsala, Zambito Marsala   +40 more
core   +1 more source

Non‐Syndromic Tumefactive Demyelinating Lesions in the Pediatric Population: Four Case Reports and Review of the Literature

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Introduction Tumefactive demyelinating lesions (TDLs) are large lesions (> 2 cm) seen in demyelinating syndromes such as multiple sclerosis, myelin oligodendrocyte glycoprotein antibody‐associated disorder, and neuromyelitis optica spectrum disorder. They rarely occur in children and most often have a monophasic course.
Elizabeth C. Ballinger, Hannah F. Todd, Jonathan M. Yarimi, Timothy E. Lotze, Nikita M. Shukla, Kristen S. Fisher, Alexander J. Sandweiss   +6 more
wiley   +1 more source

Lateral pterygoid muscle dystonia. A new technique for treatment with botulinum toxin guided by electromyography and arthroscopy [PDF]

, 2011
Lateral pterygoid muscle dystonia is characterized by mandibular displacement towards the opposite side of the affected muscle. It may be associated with functional disorders affecting speech, swallowing, chewing and facial symmetry.
Altura Guillén, Oscar Miguel, Bances del Castillo, Raquel, Cho Lee, Gui-Youn, Escorial Hernandez, Veronica, Mancha de la Plata, María, Martos, Pedro L., Rodríguez Campo, Francisco José   +6 more
core   +1 more source

Postictal self‐removal of intracerebral electrodes during stereoelectroencephalography monitoring: A case series

Epileptic Disorders, EarlyView.
Abstract Epilepsy surgery remains the most effective treatment for focal drug‐resistant epilepsy, and stereoelectroencephalography (SEEG) is increasingly used to define the epileptogenic‐zone network (EZN) and guide curative or palliative interventions.
Ionuț‐Flavius Bratu, Romain Carron, Julia Makhalova, Stanislas Lagarde, Fabrice Bartolomei   +4 more
wiley   +1 more source