Results 111 to 120 of about 65,541 (228)

Ataxia-telangiectasia: recommendations for multidisciplinary treatment

, 2017
Contains fulltext : 174099.pdf (Publisher’s version ) (Open Access)Ataxia-telangiectasia is a rare, neurodegenerative, and multisystem disease, characterized by cerebellar ataxia, oculocutaneous telangiectasia, immunodeficiency ...
Warrenburg, B.P.C. van de, van de Warrenburg, BPC, Deuren, M. van, Groot, I.J.M. de, Merkus, P, Os, N.J.H. van, Flier, M. van der, Haaxma, C A, van Os, NJH, Loeffen, J.L., Haaxma, C.A., Merkus, P.J.F.M., Willemsen, M.A.A.P., Willemsen, M, de Groot, IJM, van Deuren, M, Loeffen, Jan, Flier, Michiel   +17 more
core   +1 more source

Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis

Muscle &Nerve, Volume 73, Issue 6, Page 1082-1088, June 2026.
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho, Pedro Lucas G. S. B. Lima, Tito B. S. Soares, Rodrigo Fagundes da Rosa, Luis Edmundo T. A. Furtado, Ana Lucila Moreira, André L. S. Pessoa, Paulo R. Nóbrega, Pedro Braga‐Neto   +8 more
wiley   +1 more source

Walking Capacity in Children With Ataxia Telangiectasia From the Global Ataxia Telangiectasia Family Data Platform

Annals of the Child Neurology Society
Objective Walking capacity declines prematurely in individuals with ataxia telangiectasia. However, granular data on walking capacity loss in ataxia telangiectasia are scarce. In this large cross‐sectional cohort, we describe age‐related walking capacity
Biljana Horn, Alex Smith, Jennifer Thornton, Tara Symonds, Maureen Roden, Dirk Thye, William P. Whitehouse   +6 more
doaj   +1 more source

Prominent Oromandibular Dystonia and Pharyngeal Telangiectasia in Atypical Ataxia Telangiectasia

, 2009
Ataxia telangiectasia (A-T) typically presents with early-onset progressive cerebellar ataxia, oculomotor apraxia and later, oculo-cutaneous telangiectasia. Extrapyramidal symptoms, apart from chorea, are rare. In this paper, we report a case of A-T with
Carrillo, F, Bhatia, KP, Kapoor, R, Taylor, Alexander, Schneider, SA, Srinivasan, Venkataramanan   +5 more
core   +1 more source

Human Absorption, Metabolism, and Excretion (hAME) Mass Balance Studies in Patients With Cancer

Clinical and Translational Science, Volume 19, Issue 6, June 2026.
ABSTRACT Radiolabeled mass balance human studies are a critical component of clinical pharmacology programs supporting the development of new investigational drugs. These studies provide information about absorption, metabolism, and excretion (AME) of the parent drug and metabolite(s) in the human body and are normally conducted in healthy volunteers ...
Begoña de las Heras, Claudine Oelke, Pamela Atwell, Hector Herrero, Paulo Nunes, Kamal S. Saini, Laura Vidal Boixader, Catherine Laing, James Bush, Emiliano Calvo   +9 more
wiley   +1 more source

Management of Primary Refractory Diffuse Large B‐Cell Lymphoma in Patients Unsuitable for CAR T‐Cell Therapy

European Journal of Haematology, Volume 116, Issue 6, Page 771-784, June 2026.
ABSTRACT Primary refractory Diffuse Large B‐Cell Lymphoma is associated with poor outcomes and limited responsiveness to conventional salvage therapies. Although CAR T‐cell therapy represents the standard of care in this setting, a substantial proportion of patients cannot receive it despite meeting disease‐related criteria. In this review, “unsuitable”
Santino Caserta, Enrica Antonia Martino, Mamdouh Skafi, Maria Eugenia Alvaro, Antonella Bruzzese, Nicola Amodio, Eugenio Lucia, Virginia Olivito, Caterina Labanca, Francesco Mendicino, Ernesto Vigna, Fortunato Morabito, Massimo Gentile   +12 more
wiley   +1 more source

Características clínicas y de laboratorio en una cohorte de pacientes con ataxia telangiectasia en el Grupo de Inmunodeficiencias Primarias de la Universidad de Antioquía

Revista Alergia México, 2018
Antecedentes: La ataxia telangiectasia (AT, OMIM #3208900) es una enfermedad autosómica recesiva con una incidencia de 1:100 0000 nacidos vivos y caracterizada por telangiectasias, ataxia progresiva, inmunodeficiencia y sensibilidad a la radiación ...
Lina Rocío Riaño, Jesús Armando Álvarez, Julio César Orrego, Dagoberto Cabrera, Carolina Gómez, Héctor Valderrama, Alexandra Sierra, Derly Carolina Hernández, José Luis Franco   +8 more
doaj  

Incidental Colorectal Adenomas in Adolescents: Clinical Management, Genetic Evaluation, and Surveillance

Journal of Gastroenterology and Hepatology, Volume 41, Issue 6, Page 1743-1750, June 2026.
Adolescents with incidental colorectal adenomas require age‐conscious management balancing referral for genetic counseling with evidence‐based surveillance. This narrative review proposes a pragmatic clinical algorithm integrating adenoma characteristics, hereditary risk assessment, and guideline‐concordant follow‐up to support individualized ...
Brett J. Hoskins, Shlomi Cohen, Colleen B. Flahive, Isabel Rojas, Aparajita Singh, Thomas M. Attard   +5 more
wiley   +1 more source

"ATM Gene Mutations Detection in Iranian Ataxia-Telangiectasia Patients "

Iranian Journal of Allergy, Asthma and Immunology, 2004
Ataxia-Telangiectasia (AT) is an autosomal recessive disorder involving cerebellar degeneration, immunodeficiency, radiation sensitivity and cancer predisposition.
Toshio MiyawakiMohammad Hossein Sanati, Behnaz Bayat, Ahmad Aleyasin, Hasti Atashi Shirazi, Anna Isaian, Abolhassan Farhoudi, Mostafa Moin   +6 more
doaj  

Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development

Journal of Intellectual Disability Research, Volume 70, Issue 6, Page 608-652, June 2026.
ABSTRACT Background Healthcare decision‐making for individuals with rare genetic neurodevelopmental disorders (RGNDs) associated with intellectual disabilities (ID) can be complex due to the intersection of lifelong care needs, limited medical expertise and communication barriers.
Mirthe J. Klein Haneveld, Louise Cox, Petri J. C. M. Embregts, Alistair R. Niemeijer, Martina C. Cornel, Charlotte M. W. Gaasterland, Agnies M. van Eeghen   +6 more
wiley   +1 more source