Results 41 to 50 of about 25,555 (216)

Ciliary Membrane Lipid Homeostasis in Health and Disease

Advanced Science, EarlyView.
This review systematically delineates the distinct lipid landscapes of ciliary membranes, including the spatial organization of phosphoinositides, cholesterol, and sphingolipids. It elucidates how these lipids orchestrate ciliogenesis, signal transduction, and membrane dynamics in cilia beating, and highlights how their dysregulation drives ...
Zhenzhou Huang, Yuan‐yuan Liu, Hanqi Sun, Peiwei Liu   +3 more
wiley   +1 more source

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

A Novel Constitutional TUBB Variant Associated With Familial Malformations of Cortical Development

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Most pathogenic tubulin variants arise de novo in sporadic patients, causing severe brain malformations and significant neurodevelopmental impairment. The resulting reproductive disadvantage typically prevents these mutations from being transmitted to offspring.
Elena Cellini, Davide Mei, Mara Cavallin, Simona Fiori, Luciana Tramacere, Maria Elena Melica, Giulia Antonelli, Simona Virdò, Elena Parrini, Renzo Guerrini   +9 more
wiley   +1 more source

Progressive Cognitive Decline and Pyramidal Signs in a Patient With a Novel Homozygous c.395A>T; p.Lys132Met Mutation in CHCHD2. [PDF]

Clin Case Rep
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Salari M, Soltani A, Etemadifar M, Rezaei K.   +3 more
europepmc   +2 more sources

Apraxia of Speech and Apraxia of Phonation

The Japan Journal of Logopedics and Phoniatrics, 2004
発声失行という用語は発語失行と比べると, 確立された概念とはいいがたく, その報告数も少ない.左MCA領域の脳梗塞により発声障害, 発語失行, 失語症を呈した症例を提示し発声失行について検討した.本例は咳払いや笑うときには有響成分が見られた一方で, ささやき声を呈した発声障害が8ヵ月以上持続し, 構音レベルの失行症状の改善と解離していた.鼻咽腔内視鏡検査にて, 発声時の声帯運動は一貫性に乏しく声帯が全く内転しないときや不自然な声門閉鎖が見られるときがあった.有声が見られるようになってからも一定しなかった.さらに発声時以外の意図的な咳払いや深呼吸時にも呼吸と声帯運動のタイミングのずれが観察された.声帯運動時の非一貫性や意図性と自動性の解離が明らかであり, 本例の発声障害は失行症状の一つとして捉えられ,
openaire   +2 more sources

Severidad de la demencia y apraxia en demencia frontotemporal variante frontal [PDF]

, 2011
Introducción: Las descripciones de apraxia en la variante frontal de la demencia frontotemporal (DFT-vf) son a menudo aisladas y contradictorias (Blass & Rabins, 2009; Donoso & Salinas, 2009).
Pablo Guillermo Gómez, Politis, Daniel Gustavo, Daniel Gustavo Politis, Gómez, Pablo Guillermo   +3 more
core   +1 more source

Expanding the Phenotypic Spectrum of TXNDC15‐Related Ciliopathies to Include Joubert Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic loss‐of‐function variants in TXNDC15 are a known cause of the perinatally lethal ciliopathy Meckel syndrome (MKS). TXNDC15 encodes an endoplasmic reticulum (ER)‐resident thioredoxin‐domain protein required for ciliary transition zone integrity.
Zachary T. Sentell, Robert Geraghty, Juliana E. Arcila‐Galvis, Praveen Dhondurao‐Sudhindar, Sergio Foullerat Cañada, Fulvio D'Abrusco, Bosanka Jocic‐Jakubi, Miguel Barroso‐Gil, Valentina Serpieri, Thomas M. Kitzler, Kate E. Chandler, Eleanor G. Seaby, Gabrielle Wheway, Jennifer C. Dempsey, Dan Doherty, Enza M. Valente, John A. Sayer   +16 more
wiley   +1 more source

Apraxia of speech due to the left postcentral gyrus lesion

Clinical Case Reports
Key Clinical Message Apraxia of speech (AOS) due to a postcentral infarction differs from conventional precentral AOS with respect to phonemic errors (phoneme substitution) which are more common than phonetic errors (phoneme distortion) and preserved ...
Naoko Mitani, Yasuhisa Sakurai
doaj   +1 more source

Apraxia Patterns for the Differentiation between Alzheimer’s Disease and Frontotemporal Dementia Variants

Medicina
Background and Objectives: Despite the increasing use of biomarkers, differentiation between Alzheimer’s disease (AD), behavioral variant Frontotemporal Dementia (bvFTD), and Primary Progressive Aphasia (PPA) remains a challenge.
Georgios Papadopoulos, Dimitrios Parissis, Anna Gotzamani-Psarrakou, Panagiotis Ioannidis   +3 more
doaj   +1 more source

Patient and Family Reported Clinical Picture of IRF2BPL‐Related Disorders

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT IRF2BPL‐related disorder is a neurodevelopmental disorder caused by heterozygous variants in the IRF2BPL (Interferon Regulatory Factor 2 Binding Protein‐Like) gene. The few reports available in the literature suggest that common symptoms include developmental delay, intellectual disability, and developmental regression.
Zoe Goldstone‐Joubert, Danielle M. Pascual, Laurie Anne Bailey, Loren D. M. Peña, Paul C. Marcogliese   +4 more
wiley   +1 more source