Results 91 to 100 of about 77,939 (326)

Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden, Katlyn E. McGrattan, Peter B. Kang   +2 more
wiley   +1 more source

Directional Deep Brain Stimulation for Parkinson's Disease: Results of an International Crossover Study With Randomized, Double‐Blind Primary Endpoint

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objective Published reports on directional deep brain stimulation (DBS) have been limited to small, single‐center investigations. Therapeutic window (TW) is used to describe the range of stimulation amplitudes achieving symptom relief without side effects.
Alfons Schnitzler, Pablo Mir, Matthew A. Brodsky, Leonard Verhagen, Sergiu Groppa, Ramiro Alvarez, Andrew Evans, Marta Blazquez, Sean Nagel, Julie G. Pilitsis, Monika Pötter‐Nerger, Winona Tse, Leonardo Almeida, Nestor Tomycz, Joohi Jimenez‐Shahed, Witold Libionka, Fatima Carrillo, Christian J. Hartmann, Stefan Jun Groiss, Martin Glaser, Florence Defresne, Edward Karst, Binith Cheeran, Jan Vesper, for the PROGRESS Study Investigators   +24 more
wiley   +1 more source

Automatic speech recognition with deep neural networks for impaired speech [PDF]

, 2016
The final publication is available at https://link.springer.com/chapter/10.1007%2F978-3-319-49169-1_10Automatic Speech Recognition has reached almost human performance in some controlled scenarios.
España-i-Bonet, Cristina, Rodríguez Fonollosa, José Adrián   +1 more
core   +1 more source

Atypical Clinical Course of Griscelli Syndrome Type 2 With Primarily Neurologic Presentation and Adult‐Onset in a 46‐Year‐Old Male

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Griscelli Syndrome Type 2 (GS2) is a rare autosomal recessive disorder caused by pathogenic mutations in the RAB27A gene. Typically, it is characterized by cutaneous hypopigmentation, immunodeficiency, with or without neurological abnormalities secondary to hemophagocytic lymphohistiocytosis (HLH). Without treatment, GS2 often results in fatal
Dzhoy Papingi, Michael Kutsche, Helena Lichtenfeld, Fanny Kortüm, Angela Abicht, Laura Herrmann, Theresia Herget   +6 more
wiley   +1 more source

Deep Brain Stimulation of Caudal Zona Incerta for Parkinson's Disease: One‐Year Follow‐Up and Electric Field Simulations

Neuromodulation: Technology at the Neural Interface, EarlyView., 2021
Abstract Objective To evaluate the effects of bilateral caudal zona incerta (cZi) deep brain stimulation (DBS) for Parkinson's disease (PD) one year after surgery and to create anatomical improvement maps based on patient‐specific simulation of the electric field.
Rasmus Stenmark Persson, Teresa Nordin, Gun‐Marie Hariz, Karin Wårdell, Lars Forsgren, Marwan Hariz, Patric Blomstedt   +6 more
wiley   +1 more source

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification. [PDF]

, 2020
Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have
A. Athanasiou-Fragkouli, A. Begtrup, A. Bisgin, A. Carr, A. Pittman, A. Richard-Loendt, A. Verrotti, A.M. Ruiz, B. Cormand, B. Garavaglia, B. Kalmar, B. O&apos, B. Perez-Duenas, B.M. Karashova, B.M. Sanchez, C. Beetz, C. Macmillan, C. Scuderi, D. Avdjieva, D. Timmann, E. Borgione, E. Dardiotis, E. Torti, E.Z. Papanicolaou, F. Al-Mutairi, F. Launchbury, G. Di Rosa, G. Heimer, G. Hotton, G. Koutsis, G. Marseglia, G. McDonnell, G. Morello, H. Houlden, H. Kathom, H. Sherifa, I. Al-Khawaja, J. Althonayan, J. McKinley, J. Mine, J.H. Livingston, J.R. Mendes de Oliveira, J.S. Goraya, L. Arning, L. Greensmith, L.V. Schottlaender, M. Aurrand-Lions, M. Breza, M. de Grandis, M. Garcia-Silva, M. Pineda-Marfa, M. Vikelis, M. Zollo, M.D. Ferrari, M.P.M. Soutar, N.N. Rana, O. Atawneh, O. Swayne, P. Giunti, P. Striano, P. Veggiotti, P.J. Morrison, R. Abeti, R. Boles, R. Forbes, R. Maroofian, R. Tincheva, S. Banu, S. Boesch, S. Brandner, S. Efthymiou, S. Groppa, S. Ibrahim, S. Khan, S. Kirmani, S. Mangano, S. Maqbool, S. Papacostas, S. Portaro, S. Savasta, S. Tug Bozdogan, T. Stojkovic, T. Sultan, V. Chelban, W. Nachbauer, Y.A. Dauvilliers, Z. Jaunmuktane   +86 more
core   +8 more sources

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Temporal and spatial variability in speakers with Parkinson's Disease and Friedreich's Ataxia [PDF]

, 2008
Speech variability in groups of speakers with Parkinson's disease (PD) and with Friedreich's ataxia was compared with healthy controls. Speakers repeated the same phrase 20 times at one of two rates (fast or habitual).
Anderson, Andrew, Howell, Peter, Lowit, Anja   +2 more
core  

Risk factors for chest infection in acute stroke: a prospective cohort study [PDF]

, 2007
<p><b>Background and Purpose:</b> Pneumonia is a major cause of morbidity and mortality after stroke. We aimed to determine key characteristics that would allow prediction of those patients who are at highest risk for poststroke ...
Bagg, J., Bowie, L., Langhorne, P., Miller, H., Sellars, C., Stott, D.J., Sweeney, M.P., Tilston, J.   +7 more
core   +1 more source

The First Reported Case of an Inherited Pathogenic Variant in DEAF1 From a Parent With Milder Phenotype Provides Evidence of Variable Gene Expressivity of the DEAF1‐Associated Vulto‐van Silfout‐de Vries Syndrome (VSVS)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT DEAF1‐associated neurodevelopmental disorder (DAND) is a neurodevelopmental spectrum disorder caused by two methods of inheritance: the autosomal dominant intellectual disability syndrome (Vulto‐van Silfout‐de Vries syndrome (VSVS), OMIM #615828), and the autosomal recessive Neurodevelopmental disorder with hypotonia and impaired expressive ...
Kylie Katz, Philip Jensik, Milen Velinov
wiley   +1 more source