Results 41 to 50 of about 65,541 (228)

Cervical dystonia and no oculomotor apraxia as new manifestation of ataxia-telangiectasia-like disorder 1 – case report and review of the literature

Frontiers in Neurology, 2023
Ataxia-telangiectasia-like disorder 1 (ATLD1) is a rare neurodegenerative disorder associated with early onset ataxia and oculomotor apraxia. The genetic determination of ATLD1 is a mutation in the MRE11 gene (meiotic recombination 11 gene), which causes
Agnieszka Bajek, Dominika Przewodowska, Dariusz Koziorowski, Maria Jędrzejowska, Maria Jędrzejowska, Stanisław Szlufik   +5 more
doaj   +1 more source

Ataxia telangiectasia [PDF]

, 2003
Review on Ataxia telangiectasia, with data on clinics, and the genes ...
Uhrhammer, N, Bay, JO, Gatti, RA
core   +1 more source

Ataxia-telangiectasia and combined hepatocellular-cholangiocarcinoma: A case report

Indian Journal of Pathology and Microbiology, 2023
Ataxia-telangiectasia (A-T) is a rare autosomal recessive disease characterized by ataxia, cutaneous and ocular telangiectasia, impaired immunity with susceptibility to sino-pulmonary infections, radiation sensitivity, and cancers particularly of hemato ...
Tej P Singh, Shraddha Patkar, Mahesh Goel, Munita Bal Menon   +3 more
doaj   +1 more source

Ataxia telangiectasia: Family management [PDF]

, 2010
Ataxia telangiectasia (AT) is a rare autosomal recessive disease resulting in progressive degeneration of multiple systems in the body. Both A-T homozygote and heterozygote are at increased risk of developing malignancy. We report a family in which three
Gnana, Sagar T., SagarT Gnana, Reddy, Neelesh, Neelesh Reddy, Arun Seshachalam, Seshachalam, Arun, Sanju Cyriac, Cyriac, Sanju   +7 more
core   +3 more sources

Six Novel ATM Gene Variants in Sri Lankan Patients with Ataxia Telangiectasia

Case Reports in Genetics, 2020
Introduction. Ataxia telangiectasia is a rare genetic condition with an estimated prevalence of 1 in 40,000–100,000 live births. This condition predominantly affects the nervous and immune systems. It is characterized by progressive ataxia beginning from
D. Hettiarachchi, Hetalkumar Panchal, B. A. P. S. Pathirana, P. D. Rathnayaka, A. Padeniya, P. S. Lai, V. H. W. Dissanayake   +6 more
doaj   +1 more source

Dystonia in Ataxia Telangiectasia: A Case Report with Novel Mutations

Oman Medical Journal, 2020
Ataxia telangiectasia (A-T) is a common, genetically inherited cause of early childhoodonset ataxia that is classically characterized by progressive cerebellar malfunction, oculocutaneous telangiectasia, genome instability, and immunodeficiency. There is
Majid Zaki-Dizaji, Mohammad Tajdini, Fatemeh Kiaee, Hossein Shojaaldini, Reza Shervin Badv, Hassan Abolhassani, Asghar Aghamohammadi   +6 more
doaj   +1 more source

Ataxia telangiectasia [PDF]

, 1999
Review on Ataxia telangiectasia, with data on clinics, and the genes ...
Uhrhammer, N, Bay, JO, Gatti, RA
core   +1 more source

Development of cancer surveillance guidelines in ataxia telangiectasia: A Delphi‐based consensus survey of international experts

, 2023
Background/Objectives: Ataxia telangiectasia (A‐T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A‐T. We aimed to
Lobna Mansour, Elizabeth McDermott, Claudio Pignata, Dandapani, Madhumita, Gilbert, Donald L, Tischkowitz, Marc, Dückers, Gregor, Coman, David J, Gregor Dückers, Perlman, Susan L, Wainwright, Claire, Gilbert, Donald L., Suri, Mohnish, Dineen, Robert A, De Dios Perez, Blanca, Pignata, Claudio, Whitehouse, William, Dineen, Robert, Pauni, Micaela, Bhatt, Jayesh, Sophie Wilne, Panek, Rafal, McDermott, Elizabeth, Sumit Jagani, Oscar Porras, Bhatt, Jayesh M, Jayesh M. Bhatt, Susan L. Perlman, Pere Soler‐Palacin, Gilbert, Donald, Nick Russo, Sam, Micaela Pauni, Porto, Mariela Betina, Mahendra Bhatt, Jayesh, Donald L. Gilbert, Glazebrooke, Cristine, Wilne, Sophie, Katherine Schon, Masatoshi Takagi, Koenig, Mary Kay, Marc Tischkowitz, Coman, David J., Dineen, Robert A., Mary Kay Koenig, Perlman, Susan L., Blanca De Dios Perez, Emilia Cirillo, Whitehouse, William P., Renata Neves, Robert A. Dineen, Sam Nick Russo, Soler-Palacin, Pere, Claire Wainwright, Soler-Palacine, Pere, Madhumita Dandapani, DeDiosPerez, Blanca, McDermott, Elisabeth, Russo, Sam Nick, Caputi, Caterina, Kay Koenig, Mary, Dineen Robert A, Cristine Glazebrook, Glazebrook, Cristine, Rafal Panek, Neves, Renata, Caterina Caputi, Perlman, Susan, Cirillo, Emilia, Whitehouse, William P, Mohnish Suri, Coman, David, Mansour, Lobna, Mariela Betina Porto, David J. Coman, Schon, Katherine, Jagani, Sumit, Bhatt, Jayesh M., William P. Whitehouse, Takagi, Masatoshi, Porras, Oscar, Betina Porto, Mariela   +80 more
core   +1 more source

Conjunctival Telangiectasia in a Patient with Ataxia Telangiectasia: A Case Report

, 2012
The purpose of this paper is to report a 7-year-old patient who developed bilateral conjunctival hyperemia while being under treatment of pneumonia in Pediatric Infectious Diseases Clinic at Sisli Etfal Training and Research Hospital.
Dilek Güven, Özge Pınar Akarsu, Cemile Üçgül Atılgan   +2 more
core   +1 more source

Generation of four gene-edited human induced pluripotent stem cell lines with mutations in the ATM gene to model Ataxia-Telangiectasia

Stem Cell Research, 2023
Ataxia-Telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by mutations in the ataxia-telangiectasia mutated (ATM) gene, resulting, among other symptoms, in neurological dysfunction.
Wasifa Nurieva, Elena Ivanova, Sanabel Chehab, Parth Singh, Marina Reichlmeir, Karoly Szuhai, Georg W.J. Auburger, William C. Skarnes, Zoltán Ivics   +8 more
doaj   +1 more source