Cargando…

Acoustic Analysis of Phonation in Children With Smith–Magenis Syndrome

Complex simultaneous neuropsychophysiological mechanisms are responsible for the processing of the information to be transmitted and for the neuromotor planning of the articulatory organs involved in speech. The nature of this set of mechanisms is closely linked to the clinical state of the subject....

Descripción completa

Detalles Bibliográficos
Autores principales:	Hidalgo-De la Guía, Irene, Garayzábal-Heinze, Elena, Gómez-Vilda, Pedro, Martínez-Olalla, Rafael, Palacios-Alonso, Daniel
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Human Neuroscience
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8209519/ https://www.ncbi.nlm.nih.gov/pubmed/34149380 http://dx.doi.org/10.3389/fnhum.2021.661392

Ejemplares similares

Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
por: Poisson, Alice, et al.
Publicado: (2015)

Smith-magenis syndrome: A rare case report
por: Sinha, Rupam, et al.
Publicado: (2022)

RAI1 gene mutations: mechanisms of Smith–Magenis syndrome
por: Falco, Mariateresa, et al.
Publicado: (2017)

Cerebral Venous Thrombosis in a Patient With Smith-Magenis Syndrome
por: Zahoor, Hovra, et al.
Publicado: (2023)

Editorial: Multimodal Tracking of Functional Data in Parkinson's Disease and Related Disorders–Speech and Language Neuromotor and Cognitive Assessment
por: Tsanas, Athanasios, et al.
Publicado: (2021)

Surgical treatment of scoliosis in Smith-Magenis syndrome: a case report
por: Tsirikos, Athanasios I, et al.
Publicado: (2010)

Reversed gender ratio of autism spectrum disorder in Smith-Magenis syndrome
por: Nag, Heidi Elisabeth, et al.
Publicado: (2018)

Smith-Magenis Syndrome—Clinical Review, Biological Background and Related Disorders
por: Rinaldi, Berardo, et al.
Publicado: (2022)

RAI1 Transcription Factor Activity Is Impaired in Mutants Associated with Smith-Magenis Syndrome
por: Carmona-Mora, Paulina, et al.
Publicado: (2012)

Congenital Scoliosis in Smith–Magenis Syndrome: A Case Report and Review of the Literature
por: Li, Zheng, et al.
Publicado: (2015)

Hidradenitis Suppurativa in a Patient with Smith-Magenis Syndrome: A Case Report
por: McKenzie, Shanice A, et al.
Publicado: (2019)

Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
por: Boot, Erik, et al.
Publicado: (2021)

Metabolic Profile of Patients with Smith-Magenis Syndrome: An Observational Study with Literature Review
por: Cipolla, Clelia, et al.
Publicado: (2023)

Smith–Magenis syndrome protein RAI1 regulates body weight homeostasis through hypothalamic BDNF-producing neurons and neurotrophin downstream signalling
por: Javed, Sehrish, et al.
Publicado: (2023)

Frameshift mutation hotspot identified in Smith-Magenis syndrome: case report and review of literature
por: Truong, Hoa T, et al.
Publicado: (2010)

Parental experiences with behavioural problems in Smith–Magenis syndrome: The need for syndrome-specific competence
por: Nag, Heidi Elisabeth, et al.
Publicado: (2019)

Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
por: Agar, Georgie, et al.
Publicado: (2022)

Smith-Magenis Syndrome: Molecular Basis of a Genetic-Driven Melatonin Circadian Secretion Disorder
por: Poisson, Alice, et al.
Publicado: (2019)

SUN-691 Type 2 Diabetes Management in the Context of Smith-Magenis Syndrome: Case Report
por: Mulvaney, Kylie Tamm, et al.
Publicado: (2020)

Management of Attention Deficits and Behavioral Dyscontrol With an Evening-Dosed Methylphenidate Formulation in Smith-Magenis Syndrome
por: Narlesky, Matthew R, et al.
Publicado: (2022)

Loss of Rai1 enhances hippocampal excitability and epileptogenesis in mouse models of Smith–Magenis syndrome
por: Chang, Ya-Ting, et al.
Publicado: (2022)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview
por: Nijim, Yousif, et al.
Publicado: (2016)

Adrenocorticotropic Hormone Therapy Improved Spasms and Sleep Disturbance in Smith–Magenis Syndrome: A Case Report
por: Momosaki, Ken, et al.
Publicado: (2020)

Age-related changes in behavioural and emotional problems in Smith–Magenis syndrome measured with the Developmental Behavior Checklist
por: Nag, Heidi Elisabeth, et al.
Publicado: (2020)

Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome
por: Turco, Elisa Maria, et al.
Publicado: (2022)

Fluid-structure-acoustic interactions in an ex vivo porcine phonation model
por: Semmler, Marion, et al.
Publicado: (2021)

Phenotypic Consequences of Copy Number Variation: Insights from Smith-Magenis and Potocki-Lupski Syndrome Mouse Models
por: Ricard, Guénola, et al.
Publicado: (2010)

First Case Report of Smith–Magenis Syndrome (SMS) Among the Arab Community in Nazareth: View and Overview: Erratum
Publicado: (2017)

Do Auditory Mismatch Responses Differ Between Acoustic Features?
por: An, HyunJung, et al.
Publicado: (2021)

SPatiotemporal-ENcoded acoustic radiation force imaging of focused ultrasound
por: Qi, Xu, et al.
Publicado: (2023)

Mouse Models of Genomic Syndromes as Tools for Understanding the Basis of Complex Traits: An Example with the Smith-Magenis and the Potocki-Lupski Syndromes
por: Carmona-Mora, P, et al.
Publicado: (2009)

Functional and cellular characterization of human Retinoic Acid Induced 1 (RAI1) mutations associated with Smith-Magenis Syndrome
por: Carmona-Mora, Paulina, et al.
Publicado: (2010)

Methylphenidate for attention-deficit/hyperactivity disorder in patients with Smith–Magenis syndrome: protocol for a series of N-of-1 trials
por: Müller, A. R., et al.
Publicado: (2021)

A case of Smith–Magenis syndrome with skin manifestations caused by a novel locus mutation in the RAI1 gene
por: Wu, Xiaobin, et al.
Publicado: (2023)

N1 Repetition-Attenuation for Acoustically Variable Speech and Spectrally Rotated Speech
por: Marklund, Ellen, et al.
Publicado: (2020)

Dataset size considerations for robust acoustic and phonetic speech encoding models in EEG
por: Desai, Maansi, et al.
Publicado: (2023)

Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith–Magenis syndrome
por: Huang, Wei-Hsiang, et al.
Publicado: (2018)

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses
por: Cai, Meiying, et al.
Publicado: (2021)

A unique Smith-Magenis patient with a de novo intragenic deletion on the maternally inherited overexpressed RAI1 allele
por: Sironi, Alessandra, et al.
Publicado: (2022)

rAAV-CRISPRa therapy corrects Rai1 haploinsufficiency and rescues selective disease features in Smith-Magenis syndrome mice
por: Chang, Hao-Cheng, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_df2hta45n4o4mveqh5i2b24rec