Results 121 to 130 of about 320,397 (306)

Remote Monitoring in Myasthenia Gravis: Exploring Symptom Variability

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Myasthenia gravis (MG) is a rare, autoimmune disorder characterized by fluctuating muscle weakness and potential life‐threatening crises. While continuous specialized care is essential, access barriers often delay timely interventions. To address this, we developed MyaLink, a telemedical platform for MG patients.
Maike Stein, Maximilian Mönch, Meret Herdick, Frauke Stascheit, Sarah Hoffmann, Hannah Preßler, Philipp Mergenthaler, Carla Dusemund, Paolo Doksani, Haoqi Sun, Pushpa Narayanaswami, Andreas Meisel, Lea Gerischer, Sophie Lehnerer   +13 more
wiley   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

A Clinical Tool for Assessing Infants' Auditory Acuity [PDF]

, 2010
poster abstractMy translational research involves developing tools to assess speech perception and language skills during infancy. Language assessment during infancy helps identify children who are at risk for language disorders so that they can receive ...
Houston, Derek
core  

Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adrenoleukodystrophy is a rare inherited peroxisomal disease caused by pathogenic variants in the ABCD1 gene located on the X chromosome. Although the most severe central nervous system and adrenal complications typically affect only men with adrenoleukodystrophy, the majority of women develop myeloneuropathy symptoms in adulthood.
Chenwei Yan, Elizabeth I. Pierpont, Amena S. Fine, Reena V. Kartha   +3 more
wiley   +1 more source

A clinical approach to disorders of speech [PDF]

, 2014
Disorders of speech and communication, including Aphasia (mainly post stroke) are a major community health burden in terms of DALY (Disability Adjusted Life Years). Unfortunately they are relatively neglected with huge treatment gap.
Pauranik, Apoorva
core   +1 more source

Remote Assessment of Ataxia Severity in SCA3 Across Multiple Centers and Time Points

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Spinocerebellar ataxia type 3 (SCA3) is a genetically defined ataxia. The Scale for Assessment and Rating of Ataxia (SARA) is a clinician‐reported outcome that measures ataxia severity at a single time point. In its standard application, SARA fails to capture short‐term fluctuations, limiting its sensitivity in trials.
Marcus Grobe‐Einsler, Vivian Maas, Arian Taheri Amin, Jennifer Faber, Tamara Schaprian, Katharina Hill, Matthis Synofzik, Lisa H. Graf, Heike Jacobi, Manuela Lima, Ana F. Ferreira, Bart P. van de Warrenburg, Ilse H. J. Willemse, Dagmar Timmann, Andreas Thieme, Paola Giunti, Hector Garcia‐Moreno, Magda M. Santana, Jeannette Hübener‐Schmid, Elin H. Davies, Thomas Klockgether   +20 more
wiley   +1 more source

Comparing the Word Definition Skill between Children with Cochlear Implant and Normal Children

پژوهان, 2019
Background and Objective: Word definition is a linguistic and metalinguistic skill related to the development of language, academic success and intellectual function.
Leyla Ezazi, Sediqe Safaeyan, Davood Sobhani Rad, Hamid Tayarani Niknezhad, parisa Rajaee, Mahdiye Zavi, Asieye Solati, Kiarash Golestani   +7 more
doaj  

Knowledge of Speech and Language Therapists about Drugs Related to Speech, Language, Voice and Swallowing Disorders

Revista de Investigación en Logopedia
This descriptive study aims to assess the knowledge of speech and language therapists, who assess and treat clients with speech, language, voice, and swallowing disorders, their pharmacology education, and regarding the drugs related to these disorders.
Namık Yücel Birol, Esra Yaşar Gündüz, Samet Tosun   +2 more
doaj   +1 more source

Talking it through: using specialist coaching to enhance teachers’ knowledge from speech and language sciences [PDF]

, 2018
Teachers’ knowledge for effective pedagogies can be enhanced by drawing on a range of specific expertise held by those working in other disciplines or professions.
Flanagan, J, Lofthouse, RM, Wigley, B
core  

A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari, Arens Taga, Sonya Ulrike Steele, Ahmet Hoke   +3 more
wiley   +1 more source