Results 51 to 60 of about 17,178 (225)

Dystonia and paroxysmal dyskinesias: under-recognized movement disorders in domestic animals? A comparison with human dystonia/paroxysmal dyskinesias. [PDF]

, 2015
Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures.
Albanese, Alongi, Altenmüller, Argyelan, Baird, Baizabal-Carvallo, Berardelli, Black, Bragg, Brakebusch, Breakefield, Brüggemann, Burkhard, Byrnes, Chang, Chang, Charlier, Clemmons, De Lahunta, De Ley, De Vlamynck, Defazio, Deuschl, Deuschl, Di Riso, Draper, Du, Elia, Erro, Evinger, Fahn, Forman, Fremont, Garosi, Garosi, Geiger, Geyer, Gilio, Gill, Gill, Gill, Gittis, Goodchild, Grünberg, Hallett, Hamann, Harcourt-Brown, Harvey, Herrtage, Ikoma, Jankovic, Jankovic, Jankovic, Jinnah, Jinnah, Jinnah, Kaji, Klein, Kuyper, Lohmann, Lowrie, Malone, Martlé, McCall, Meyer-Lindenberg, Meyers, Meyers, Meyers, Meyers, Müller, Nardocci, Nollet, Nollet, Obeso, Ostrander, Ozelius, Packer, Packer, Pariset, Park, Paudel, Penderis, Peters, Peterson, Prudente, Quartarone, Quartarone, Raike, Ramsey, Rascol, Richter, Richter, Richter, Richter, Richter, Ridding, Rothwell, Rothwell, Rusbridge, Sacchetto, Sanger, Shelton, Stoessl, Suls, Testoni, Thenganatt, Tolosa, Urkasemsin, Valberg, Vanhaesebrouck, Wichmann, Wilson, Wissel, Woods, Wright, Wright, Yanagisawa   +116 more
core   +2 more sources

Identification of a de novo Mutation in TMEM106B in a Saudi Child Causes Hypomyelination Leukodystrophy

Global Medical Genetics, 2023
Hypomyelinating leukodystrophies are one of the white matter disorders caused by a lack of myelin deposition in the central nervous system (CNS). Here, we report the first case of hypomyelinating leukodystrophy in the Middle East and Saudi Arabia.
Lena Alotaibi, Amal Alqasmi
doaj   +1 more source

Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene [PDF]

, 2006
Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing
Abidi, F. E., Echeverri, R., Holloway, L., Lubs, H., Meindl, Alfons, Schwartz, C. E., Stevenson, R. E.   +6 more
core   +2 more sources

Bovine viral diarrhoea virus 1b infection associated with congenital tremor and hypomyelination in Holstein calves

Veterinary Microbiology, 2021
Hypomyelination is a rare consequence of in utero bovine viral diarrhoea virus (BVDV) infection. We describe a BVDV outbreak in a naïve Holstein dairy herd in northern Italy, with an unusually high prevalence of calves with neurological signs, generalised tremors and ataxia.
Gallina L., Koch M. C., Gentile A., Treglia I., Bombardi C., Mandrioli L., Bolcato M., Scagliarini A., Drogemuller C., Seuberlich T., Ciulli S.   +10 more
openaire   +3 more sources

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

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

Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi, Natalie Fulton, Michael Morrissey, Rebekah Landre, Stuart Tomko, Fumihiko Urano, Réjean M Guerriero   +6 more
wiley   +1 more source

Generation of Oligodendrocyte Progenitor Cells From Mouse Bone Marrow Cells. [PDF]

, 2019
Oligodendrocyte progenitor cells (OPCs) are a subtype of glial cells responsible for myelin regeneration. Oligodendrocytes (OLGs) originate from OPCs and are the myelinating cells in the central nervous system (CNS).
Casella, Giacomo, Han, Juan-Juan, Jia, Ling-Yu, Li, Xing, Lu, Xin-Yu, Rostami, A. M., Tian, Jing, Yang, Ting, Ye, Ze-Qing, Zhang, Yuan   +9 more
core   +1 more source

Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]

, 2013
Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello, A Lujan Feliu-Pascual, A Razzaq, A Tjondrokoesoemo, A Toussaint, AC Durieux, AH Beggs, AJ Muller, Anne Toussaint, AS Nicot, AY Mejaddam, B Qualmann, B Sinha, Belinda Cowling, BJ Peter, BS Cowling, C Fugier, C Kojima, C Spiegelhalter, CJ McMillan, CR Pierson, D Bansal, D Grabs, D Sakamuro, DJ Owen, E Lee, G Di Paolo, G Ren, G. Diane Shelton, Gregory A. Cox, H Jungbluth, Ivana Prokic, J Bohm, J Laporte, J Weis, JJ Dowling, Joachim Weis, Jocelyn Laporte, Johann Böhm, KC Chang, KG Claeys, L Klinge, Laurent Tiret, M Bitoun, M Maurer, M Pele, Marie Maurer, MH Butler, Nasim Vasli, NB Romero, NC Mao, R Wechsler-Reya, RJ Wechsler-Reya, S Pant, SE Davies, T Itoh, Thomas James Anderson, Ulrike Schara, Wolfram Kress   +58 more
core   +7 more sources

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source