Results 61 to 70 of about 79,478 (306)

Neuroimaging in Functional Movement Disorders. [PDF]

, 2019
PURPOSE OF REVIEW: Functional movement disorders are common and disabling causes of abnormal movement control. Here, we review the current state of the evidence on the use of neuroimaging in Functional movement disorders, particularly its role in helping
Edwards, MJ, Roelofs, JJ, Teodoro, T
core   +2 more sources

Movement Disorders in Aicardi–Goutières Syndrome and Response to Immunomodulation

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study characterizes movement disorders and treatment responses in seven children with Aicardi–Goutières syndrome (AGS). We retrospectively evaluated motor phenotypes, neuroimaging, and interferon signatures in patients treated with baricitinib or anifrolumab. Spasticity affected all patients, while dystonia was present in 4/7.
Enrique Gonzalez Saez‐Diez, Monica Ferrer Socorro, Kathryn Yang, Nicole Battaglia, Zainab Zaman, Mariko Bennett, Adeline Vanderver, Pui Y. Lee, Lauren A. Henderson, Milena M. Andzelm, Darius Ebrahimi‐Fakhari   +10 more
wiley   +1 more source

DNM1 encephalopathy: A new disease of vesicle fission. [PDF]

, 2017
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling ...
Campbell, Colleen A, Cervenka, Mackenzie C, Cilio, Maria R, Cohen, Julie S, Dlugos, Dennis J, Epi4K Consortium, EuroEPINOMICS-RES NLES Working Group, Fatemi, Ali, Helbig, Ingo, Helbig, Katherine L, Hernandez-Hernandez, Laura, Hollingsworth, Georgie, Huether, Robert, Joshi, Charuta N, Kaplan, Richard A, Kirsch, Heidi, Kolbe, Diana L, Lawson, John A, Littlejohn, Rebecca, Lourenço, Charles, Maher, Bridget, McClellan, Rebecca, McLean, Scott D, Muhle, Hiltrud, Møller, Rikke S, Neubauer, Bernd A, Nunes, Mark E, Palmer, Elizabeth, Pena, Sérgio DJ, Pendziwiat, Manuela, Sagawa, Yoshimi, Sarco, Dean P, Scheffer, Ingrid E, Shinde, Deepali N, Sisodiya, Sanjay M, Slavotinek, Anne, Stephani, Ulrich, von Spiczak, Sarah, Yuen, Amy   +38 more
core   +2 more sources

Auditory feedback control mechanisms do not contribute to cortical hyperactivity within the voice production network in adductor spasmodic dysphonia [PDF]

, 2020
Adductor spasmodic dysphonia (ADSD), the most common form of spasmodic dysphonia, is a debilitating voice disorder characterized by hyperactivity and muscle spasms in the vocal folds during speech.
Blood, Anne, Burns, James, Daliri, Ayoub, Elizabeth, Heller Murray, Guenther, Frank, Nieto-Castanon, Alfonso, Noordzij, J. Pieter, Tourville, Jason   +7 more
core   +1 more source

Behavioral signature of trihexyphenidyl in the TOR1A (DYT1) knockin mouse model of dystonia

Dystonia
Dystonia is a neurological disorder characterized by involuntary repetitive movements and abnormal postures. Animal models have played a pivotal role in studying the pathophysiology of dystonia.
Ahmad Abdal Qader, Yuping Donsante, Jeffrey E. Markowitz, H. A. Jinnah, H. A. Jinnah, Chethan Pandarinath, Chethan Pandarinath, Ellen J. Hess, Ellen J. Hess   +8 more
doaj   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]

, 2007
Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core  

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

The Dystonias [PDF]

Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques, 1988
Dystonia is a difficult problem for both the clinician and the scientist. It is sufficiently common to be seen by almost all physicians, yet uncommon enough to prevent any physician from gaining broad experience in its diagnosis and treatment. Each case represents a difficult challenge even to the specialist.
E G, McGeer, P L, McGeer
openaire   +2 more sources

Cryo‐EM Structure Guided Engineering of Botulinum Neurotoxin A With Advanced Receptor Binding Affinity and Therapeutical Benefits

Advanced Science, EarlyView.
The butterfly unfolded wing in an open form structure of botulinum neurotoxin type A (BoNT/A) at physiological‐state was confirmed at 2.85 Å resolution by cryo‐electron microscopy (cryo‐EM). Structure‐guided protein engineering significantly enhanced the receptor‐binding affinity, therapeutic efficacy, and safety of the engineered toxin variants ...
Wenrui Wang, Zhaxi Zerang, Linjin You, Ziye Liu, Rong Nie, Fuwei Qi, Fenfen Gao, Chengmu Zhao, Wantong Ma, Jinghan He, Xiaoru Wang, Shanquan Wu, Bo Liu, Xinyao Liu, Dongsheng Lei, Dejuan Zhi, Dongsheng Wang   +16 more
wiley   +1 more source