Results 81 to 90 of about 121,621 (353)

Deep Brain Stimulation for VPS16‐Related Dystonia: A Multicenter Study

Annals of Neurology, EarlyView.
Objective The objective was to evaluate the effects of deep brain stimulation (DBS) in an international cohort of patients with VPS16‐related dystonia. Methods This observational study collected preoperative and postoperative demographic, clinical, stimulation, genetic, neuroimaging, and neurophysiological data of medically refractory DYT‐VPS16 ...
Tatiana Svorenova, Luigi M. Romito, Ahmet Kaymak, Eoin Mulroy, Laura Cif, Elena Moro, Kirsten E. Zeuner, Simone Zittel, Jan Niklas Petry‐Schmelzer, Doreen Gruber, Liesanne Centen, Alberto Albanese, Miriama Ostrozovicova, Vladimir Han, Veronika Magocova, Kamil Knorovsky, Aurelia Kollova, Barbara Garavaglia, Nico Golfrè‐Andreasi, Chiara Reale, Alberto Mazzoni, Giovanna Zorzi, Roberto Eleopra, Vincenzo Levi, Thomas Foltynie, Patricia Limousin, Harith Akram, Ludvic Zrinzo, Francesca Magrinelli, David Murphy, Henry Houlden, Manju A. Kurian, Claudio Baiata, Steffen Paschen, Katja Lohmann, Jens Volkmann, Wolfgang Hamel, Michael T. Barbe, Martje E. van Egmond, MAJ Tijssen, Lubos Ambro, Veronika Jurkova, Robert Jech, Petra Havrankova, Juliane Winkelmann, Michael Zech, Matej Skorvanek   +46 more
wiley   +1 more source

Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum

Orphanet Journal of Rare Diseases, 2013
BackgroundMutations in SACS, leading to autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), have been identified as a frequent cause of recessive early-onset ataxia around the world. Here we aimed to enlarge the spectrum of SACS mutations
M. Synofzik, A. Soehn, J. Gburek-Augustat, J. Schicks, K. Karle, R. Schüle, T. Haack, M. Schöning, S. Biskup, S. Rudnik-Schöneborn, J. Senderek, K. Hoffmann, P. MacLeod, Johannes Schwarz, B. Bender, Stefan Krüger, F. Kreuz, P. Bauer, L. Schöls   +18 more
semanticscholar   +1 more source

Intricate Regulation of Sphingolipid Biosynthesis: An In‐Depth Look Into ORMDL‐Mediated Regulation of Serine Palmitoyltransferase

BioEssays, EarlyView.
Multiple enzymes play a crucial role in regulating the biosynthesis of de novo sphingolipids. This regulation starts with the rate‐limiting enzyme, serine palmitoyltransferase (SPT), which catalyzes the first step of the pathway. Disruptions in this regulatory process can lead to serious diseases.
Usha Mahawar, Binks Wattenberg
wiley   +1 more source

Shock wave therapy for spastic plantar flexor muscles in hemiplegic cerebral palsy children

Egyptian Journal of Medical Human Genetics, 2015
Background: The spastic motor type is the most common form of cerebral palsy (CP). Spastic equines foot is the most frequent deformity in ambulated children with CP.
Hala A. Abdel Gawad, Amel E. Abdel Karim, Amira H. Mohammed   +2 more
doaj   +1 more source

Cellular pathways of hereditary spastic paraplegia.

Annual Review of Neuroscience, 2012
Human voluntary movement is controlled by the pyramidal motor system, a long CNS pathway comprising corticospinal and lower motor neurons. Hereditary spastic paraplegias (HSPs) are a large, genetically diverse group of inherited neurologic disorders ...
C. Blackstone
semanticscholar   +1 more source

Chemoenzymatic Route toward a De Novo Enantioselective Total Synthesis of (S)‐Baclofen Based on Metal‐Catalyzed Hydroformylation and Enzymatic Transamination

ChemBioChem, EarlyView.
A unique chemoenzymatic synthesis route toward (S)‐baclofen is presented, which highlights a hydroformylation and biocatalysis step toward the synthesis of such a challenging β‐chiral amino acid. The shown methodology exhibits high conversions and enantiomeric excess and is transferable to other β‐chiral amines and amino acids.
Feodor Belov, Hannah Bork, Luise Hänel, Manideep V. Kollipara, Matthias Höhne, Harald Gröger, Jan von Langermann   +6 more
wiley   +1 more source

Spasticity [PDF]

Canadian Medical Association Journal, 2014
Raphael, Rush, Dinesh, Kumbhare
openaire   +2 more sources

Manganese Neurotoxicity and Familial Disorders of Manganese Transport

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Manganese is the 12th most common element in the Earth's crust and is an essential industrial component. Biologically, this metal plays an important role as a constituent of numerous enzymes. While manganese is required for normal biochemical and physiological processes, manganese excess can lead to significant toxicity, particularly to the ...
Sidney M. Gospe Jr.
wiley   +1 more source

Comparison between the spastic paraplegia rating scale, Kurtzke scale, and Osame scale in the tropical spastic paraparesis/myelopathy associated with HTLV

Revista da Sociedade Brasileira de Medicina Tropical, 2012
INTRODUCTION:The objective of this study was to compare Osame's scale of motor incapacity and the expanded scale of the state of incapacity of Kurtzke with the spastic paraplegia rating scale for the clinical evaluation of patients with HTLV-I-associated
Rodrigo Antonio Rocha da Cruz Adry, Catarina Cöuras Lins, Ramon de Almeida Kruschewsky, Bernardo Galvão Castro Filho   +3 more
doaj   +1 more source

Interaction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15

Molecular Biology of the Cell, 2013
The adaptor protein complex AP-5 is stably associated with the hereditary spastic paraplegia proteins SPG11 and SPG15 in an apparently equimolar ratio to form a new type of coat.
Jennifer Hirst, Georg H. H. Borner, J. Edgar, Marco Y. Hein, M. Mann, F. Buchholz, R. Antrobus, M. Robinson   +7 more
semanticscholar   +1 more source