Results 61 to 70 of about 291,872 (291)

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

Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height. [PDF]

, 2011
The biological processes controlling human growth are diverse, complex and poorly understood. Genetic factors are important and human height has been shown to be a highly polygenic trait to which common and rare genetic variation contributes.
Cole, Trevor, Tatton-Brown, Katrina, Douglas, Jenny, Sheila Seal, Loveday, C, Patton, Michael, A Splitt, Ruark, E, Patricia Wheeler, Ra Hanks, Michael Patton, Murray, A, Katie Snape, Ramsay, Emma, Seal, Sheila, Clare Taylor, Ramsay, E, Volker Strenger, Taylor, C, Vivienne Mcconnell, Zachariou, A, Temple, KI, Loveday, Chey, Tatton-Brown, K, Patton, M, Temple, IK, Katrina Tatton-brown, Duarte, SDELV, Seal, S, Douglas, J, Jenny Douglas, Raith, W, Clericuzio, Carol, Temple, I. Karen, Magee, A, Anne Murray, Flinter, F, ?, ?, Splitt, Miranda, Banka, S, Rahman, N, Strenger, V, Flinter, Frances, Trevor Cole, Rankin, Julia, Carol Clericuzio, Snape, Katie, Zachariou, Anna, Temple, Karen I, Anna Zachariou, Murray, Anne, Splitt, M, Julia Rankin, Temple, Karen I., Nazneen Rahman, Elise Ruark, Wheeler, P, Magee, Alex, Childhood Overgrowth Collaboration, The Childhood Overgrowth, Strenger, Volker, Duarte, SDV, I Karen Temple, McConnell, Vivienne, Perdeaux, Elizabeth R, Banka, Siddharth, Clericuzio, C, Hanks, Sandra, Siddharth Banka, Del Vecchio Duarte, Frances Flinter, Wheeler, Patricia, Emma Ramsay, Ruark, Elise, Banka, Siddharth; id_orcid, McConnell, V, Elizabeth R, Perdeaux, ER, Cole, T, Taylor, Clare, Snape, K, Raith, Wolfgang, Chey Loveday, Rahman, Nazneen, Duarte, Silvana Del Vecchio, Hanks, S, Perdeaux, Elizabeth R., Alex Magee, Rankin, J   +88 more
core   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +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

Clinical Validation of Plasma p‐217tau in Neurological Diseases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi, Takumi Nakamura, Ryoma Takahashi, Tetsuya Ueda, Seiji Kinoshita, Chikage Uchida, Takashi Sugawara, Kentaro Hashimoto, Kunihiko Ishizawa, Masakuni Amari, Hiroo Kasahara, Yoshio Ikeda, Masamitsu Takatama, Mikio Shoji   +13 more
wiley   +1 more source

The Risk Factors and Predictors of Chronic Obstructive Pulmonary Disease in Patients With Obstructive Sleep Apnea–Hypopnea Syndrome at Plateau

The Clinical Respiratory Journal
Background OSAHS patients with COPD (i.e., overlap syndrome) have a significantly worse prognosis than those with OSAHS alone, and the role of plateau hypoxia in the occurrence of the disease is still unclear.
Yumei Geng, Yu Hu, Bin Li, Zhuoma Dawa, Fang Zhang   +4 more
doaj   +1 more source

SETBP1 mutations as a biomarker for myelodysplasia /myeloproliferative neoplasm overlap syndrome

Biomarker Research, 2017
Myelodysplasia (MDS) /myeloproliferative neoplasm (MPN) overlap syndrome has been described since the 2001 WHO classification as disorders that have both proliferative and dysplastic changes simultaneously.
Katherine Linder, Chaitanya Iragavarapu, Delong Liu   +2 more
doaj   +1 more source

Polyangiitis overlap syndrome: a rare clinical entity

, 2023
: Polyangiitis overlap syndrome is a rare clinical entity comprising patients with overlapping features of more than one vasculitis, usually eosinophilic granulomatosis with polyangiitis (EGPA) and granulomatosis with polyangiitis (GPA).
Mandarano, Martina, Bruno, Lorenza, Bellezza, Guido, Sidoni, Angelo, Gerli, Roberto, Bartoloni, Elena, Perricone, Carlo   +6 more
core   +1 more source

Clinical Outcomes of SEEG‐Guided Radiofrequency Thermocoagulation in Children With Focal Drug‐Resistant Epilepsy: A Multicenter Real‐World Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Stereoelectroencephalography‐guided radiofrequency thermocoagulation (SEEG‐RFTC) has emerged as a safe and effective minimally invasive treatment for children with drug‐resistant focal epilepsy. Although evidence from real‐world studies remains limited, numerous pediatric cases have demonstrated promising outcomes. This retrospective
Weitao Chen, Stéphane Jean, Weihong Liu, Yihai Dai, Xinrong Fang, Xiaoqiang Wei, Shan Chen, Shiwei Song   +7 more
wiley   +1 more source

Central retinal artery occlusion and non-arteritic anterior ischemic optic neuropathy associated with an overlap syndrome: a case report

Journal of Medical Case Reports, 2008
Introduction An "overlap syndrome" is defined as the sequential appearance over time of two or more risk factors for glaucomatous damage. The appearance of a new risk factor can alter the course and prognosis of previously stable disease.
Lima Verônica C, Prata Tiago S, Liebmann Jeffrey M, Ritch Robert   +3 more
doaj   +1 more source