Results 41 to 50 of about 2,765,832 (297)
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Voice Feminization: Voice Therapy vs. Surgical Intervention: A Systematic Review [PDF]
, 2019 Purpose: Transgender individuals often seek to alter their vocal characteristics. For Male to Female (MtF) transgender individuals, attaining a feminine voice may be particularly challenging.
Huttner, Ruth +2 more
core +1 more source
The Relationship Between Inflammation and Central Nervous System in Multiple Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Aim Multiple sclerosis is an autoimmune demyelination disease that is seen especially in the young population and has a progressive course, causing motor, sensory, and cognitive deficits. In the literature, the pathogenesis of MS disease and the interconnection between the immune and central nervous system in the disease have not been fully ...
Gamze Ansen +5 more
wiley +1 more source
Schizophrenia Bulletin, 1989 An experiment is described in which people with auditory hallucinations were brought into contact with each other. On an evening television talk show, a patient--diagnosed several times as having schizophrenia--talked about her voices. Four hundred and fifty people who also were hearing voices reacted to the program by telephone.
M A, Romme, A D, Escher
openaire +2 more sources
Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source
voice opposition without voice morphology
ZAS Papers in Linguistics, 2004 The bulk of this paper deals with an analysis of the voice system of Tukang Besi, which, has both a complex verbal agreement system as well as the last fully developed (and obligatory) case marking system among Austronesian languages with an increasingly head-marking trend to the east (case marking of core constituents only becomes functional again in ...
openaire +3 more sources
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Acoustic Measures Capture Speech Dysfunction in Spinocerebellar Ataxia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Spinocerebellar ataxias (SCA) are hereditary cerebellar degenerative disorders with a common feature of dysarthria, involving impaired phonatory and articulatory control of speech, thereby affecting social communication. In this study, we investigated whether acoustic measures could objectively measure speech dysfunction and identify
Zena Fadel +5 more
wiley +1 more source
Jitter and Shimmer measurements for speaker diarization [PDF]
, 2014 Jitter and shimmer voice quality features have been successfully used to characterize speaker voice traits and detect voice pathologies. Jitter and shimmer measure variations in the fundamental frequency and amplitude of speaker's voice, respectively.
Hernando Pericás, Francisco Javier +2 more
core
The Case of a 37‐Year‐Old Woman Presenting With Subacute Weakness and Paresthesias
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Acute intermittent porphyria (AIP) is a rare metabolic disorder that may present with subacute neuropathy and systemic symptoms, often leading to diagnostic delay. We report a 37‐year‐old woman with eight weeks of progressive bilateral upper extremity weakness and paresthesias, followed by lower extremity involvement and falls, in the setting ...
Peter Pacut +3 more
wiley +1 more source