Results 151 to 160 of about 2,416,119 (301)

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Deconstructing bilingualism and its sociocultural determinants in cognitive aging and Alzheimer's disease and related dementias. [PDF]

Alzheimers Dement
Arce Rentería M, Strangmann IM, Ghazi Saidi L, Subina MM, Paplikar A, Dash T, Costa AS, Lahiri D, Page ZA, Bose A, Ahmed S, Stites SD, D'Souza A, Ellajosyula R, Franzen S, Alladi S, de Leon J, Calabria M, Tee BL, Babulal GM, Grasso SM.   +20 more
europepmc   +1 more source

Efficacy of Intermittent Theta‐Burst Stimulation for Prolonged Disorders of Consciousness: A Prospective, Randomized, Controlled Trial

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Emerging evidence suggests that low‐frequency neural oscillations are dynamically regulated by consciousness levels, with the recovery of low cortical activity potentially serving as a neurophysiological substrate for conscious emergence. Targeted enhancement of these low‐frequency rhythms in patients with disorders of consciousness
Chuan Xu, Jun Hu, Qianqian Wu, Min Wu, Yamei Yu, Hangcheng Li, Jian Gao, Jingqi Li, Nai Ding, Jie Yu, Benyan Luo   +10 more
wiley   +1 more source

What Influences Speech Pathology Practice for Children with Complex Communication Needs from Multilingual Families? An Australian Perspective. [PDF]

Int J Lang Commun Disord
Skinner N, Barnes S.
europepmc   +1 more source

FDG‐PET Associations With Disease Severity and Outcomes in NMDA‐Receptor IgG Autoimmune Encephalitis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Patients with N‐methyl‐D‐aspartate (NMDA) receptor‐immunoglobulin G (IgG) autoimmune encephalitis (NMDAR‐IgG AE) demonstrate occipital lobe hypometabolism on baseline brain fluorodeoxyglucose‐positron emission tomography (bFDG‐PET).
Jonathan K. Lee, Jeffrey Lambe, Scott Johnson, Akua Abrah, Jennifer Bullen, Jeffrey A. Cohen, Tatchaporn Ongphichetmetha, Amy Kunchok   +7 more
wiley   +1 more source

Characterizing the linguistic profiles, training needs, and caseloads of speech language pathologists providing clinical services to multilingual people with aphasia: The international Multilingual Aphasia Practices (MAP) consensus group survey. [PDF]

PLoS One
Arslan S, Norvik MI, Alyahya RSW, Anjum J, Fyndanis V, Grima R, Martínez-Ferreiro S, Munarriz-Ibarrola A, Peñaloza C, Pierce JE, Pourquié M, Python G, Scheffer SD, Soroli E, Sze WP, Kambanaros M, Multilingual Aphasia Practices consensus group (MAP, The Collaboration of Aphasia Trialists Working Group 2).   +17 more
europepmc   +1 more source

Ketogenic Diet as an Epigenetic Therapy in SETD1B‐Related Epilepsy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Histone lysine methyltransferases such as SETD1B regulate chromatin structure and gene transcription. Ketone bodies, including butyrate, act as histone deacetylase inhibitors. We report a 4‐year‐old boy with SETD1B‐related absence epilepsy, refractory to conventional medications, who achieved sustained > 90% seizure reduction on the Modified ...
Erica Tsang, Brian S. Gloss, Jessica P. Hayes, Andrew J. A. Holland, Manoj P. Menezes, Joceline A. Branson, Shekeeb S. Mohammad, Jingya J. Yan, Shrujna Patel, Velda X. Han, Russell C. Dale   +10 more
wiley   +1 more source

The Amplitude Modulation Structure of Japanese Infant- and Child-Directed Speech: Longitudinal Data Reveal Universal Acoustic Physical Structures That Accommodate Both Syllabic and Moraic Timing. [PDF]

Neurobiol Lang (Camb)
Daikoku T, Goswami U.
europepmc   +1 more source

Posterior Cortical Atrophy in the Asia‐Pacific: A Report From the PCA Asian Workgroup

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Posterior Cortical Atrophy (PCA) is a distinct dementia syndrome primarily affecting spatial abilities and visual processing. It is associated with degeneration in the posterior part of the brain. PCA is subclassified into PCA‐pure and PCA‐plus syndromes based on consensus criteria.
Yuttachai Likitjaroen, Ya‐Ting Chang, Levinia Lim, Pai‐Yi Chiu, Jung‐Lung Hsu, SangYun Kim, Wataru Narita, Na Young Ryoo, Kyoko Suzuki, Nagaendran Kandiah, Sebastian Crutch, Ming‐Chyi Pai   +11 more
wiley   +1 more source

The influence of bilingualism on the assessment and treatment of an Italian-English speaker with the logopenic variant of PPA. [PDF]

Alzheimers Dement (Amst)
Tomasoni R, Santi GC, Tagliente S, Griseta C, Aresta S, Benzini A, Santacesaria P, Palmirotta C, Mandelli ML, Grasso S, Battista P.   +10 more
europepmc   +1 more source