ATAXIA-TELANGIECTASIA

ATAXIA-TELANGIECTASIA

Saved in:

Bibliographic Details
Main Author:	Y Renda
Format:	Article
Language:	English
Published:	Hacettepe University Institute of Child Health 1964-04-01
Series:	The Turkish Journal of Pediatrics
Subjects:	CONJUNCTIVA FRIEDREICH'S ATAXIA TELANGIECTASIS
Online Access:	https://turkjpediatr.org/article/view/4459
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Clinical and Laboratory Features of Ataxia Telangiectasia
by: J Gordon Millichap
Published: (2007-08-01)

Autosomal recessive ataxias: 20 types, and counting Ataxias autossômicas recessivas: 20 tipos e muito mais
by: Emília Katiane Embiruçu, et al.
Published: (2009-12-01)

Clinical and molecular studies in five Brazilian cases of Friedreich ataxia Avaliação clínica e molecular de cinco pacientes brasileiros com ataxia de Friedreich
by: IDA V.D. SCHWARTZ, et al.
Published: (1999-03-01)

Friedreichs ataxia in a diabetic patient
by: Inna Igorevna Klefortova, et al.
Published: (2010-06-01)

Anesthesia Management in Scoliosis Surgery of Patients with Friedreich’s Ataxia: A Report of Four Cases
by: Muhammed Köse, et al.
Published: (2022-12-01)

Genetics of Friedreich Ataxia
by: J Gordon Millichap
Published: (1997-06-01)

Content Validity of the Friedreich Ataxia Rating Scale in Patients with Spinocerebellar Ataxia
by: Michele Potashman, et al.
Published: (2025-01-01)

Dietary and lifestyle interventions for the management of hereditary ataxias
by: Wenyao Yang, et al.
Published: (2025-04-01)

Abordaje en la evaluación e intervención logopédica de pacientes con ataxia de Friedreich: revisión bibliográfica
by: Silvia Moreno Escobar, et al.
Published: (2025-07-01)

Case Report: Complex cardiac arrhythmia management in the ICU for an adolescent with Friedreich ataxia
by: Oluwatomini A. Fashina, et al.
Published: (2025-04-01)

Efficiency of a 3-week multicomponent rehabilitation on improving the function in a patient with Friedreich’s ataxia: A case report
by: Samardžić Vesna
Published: (2023-01-01)

Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report
by: Yasmine Ouaddouh, MD, et al.
Published: (2025-06-01)

A Single-Center Case Series of Hereditary Ataxia from Gujarat: Clinical and Genetic Data
by: Pranav Joshi, et al.
Published: (2025-07-01)

Alpha–lipoic acid supplementation improves pathological alterations in cellular models of Friedreich ataxia
by: Marta Talaverón-Rey, et al.
Published: (2025-08-01)

CARDIOMYOPATHY IN THE FRIEDREICH ATAXIA: CLINICAL PRESENTATION AND DIAGNOSTICS OF COMPLICATIONS
by: Е. I. Fomicheva, et al.
Published: (2017-11-01)

Clinical and cognitive assessment in Friedreich ataxia clinical trials: a review
by: Álvaro Darriba, et al.
Published: (2025-05-01)

The importance of central auditory evaluation in Friedreich's ataxia
by: Bianca Simone Zeigelboim, et al.

Infections in Ataxia-Telangiectasia
by: J Gordon Millichap
Published: (2004-04-01)

Abnormal visual cortex activity using functional magnetic resonance imaging in treatment resistant photophobia in Friedreich Ataxia
by: Araliya N. Gunawardene, et al.
Published: (2024-12-01)

Therapeutic combination of L-ascorbic acid, N-acetylcysteine, and dimethyl fumarate in Friedreich’s ataxia: insights from in vitro models
by: Fred Jonathan Edzeamey, et al.
Published: (2025-12-01)

Ataxia telangiectasia: A diagnostic challenge. Case report
by: Natalia Martínez-Córdoba, et al.
Published: (2020-07-01)

Ataxia-telangiectasia (Louis-Bar syndrome): a clinical case
by: N. S. Zaitseva, et al.
Published: (2025-03-01)

Predictive machine learning and multimodal data to develop highly sensitive, composite biomarkers of disease progression in Friedreich ataxia
by: Susmita Saha, et al.
Published: (2025-05-01)

Gait characteristics in people with Friedreich ataxia: daily life versus clinic measures
by: Hannah L. Casey, et al.
Published: (2025-03-01)

Omaveloxolone, But Not Dimethyl Fumarate, Improves Cardiac Function in Friedreich's Ataxia Mice With Severe Cardiomyopathy
by: Lili Salinas, et al.
Published: (2025-06-01)

Cardiomyopathy of Friedreich's Disease. Modern Methods of Diagnostic
by: E. I. Fomicheva, et al.
Published: (2021-03-01)

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression
by: Negin Mozafari, et al.
Published: (2025-06-01)

Robust behavioral assessment of the inducible Friedreich's ataxia mouse does not show improvement with NRF2 induction
by: Claire B. Montgomery, et al.
Published: (2025-03-01)

Biophysical characterisation of the recombinant human frataxin precursor
by: Ignacio Hugo Castro, et al.
Published: (2018-03-01)

Safety and efficacy of omaveloxolone v/s placebo for the treatment of Friedreich's ataxia in patients aged more than 16 years: a systematic review
by: Ankita Umrao, et al.
Published: (2024-12-01)

Brain microvascular endothelial cells differentiated from a Friedreich’s Ataxia patient iPSC are deficient in tight junction protein expression and paracellularly permeable
by: Frances M. Smith, et al.
Published: (2025-04-01)

MSH2 is not required for either maintenance of DNA methylation or repeat contraction at the FMR1 locus in fragile X syndrome or the FXN locus in Friedreich’s ataxia
by: Jessalyn Grant-Bier, et al.
Published: (2025-04-01)

Corynebacterium propinquum bronchopneumonia in a child with ataxia telangiectasia
by: Gülşah Malkoçoğlu, et al.
Published: (2016-10-01)

Antisense oligonucleotide therapy for patients with Friedreich’s ataxia carrying the c.165+5G>C splicing mutation
by: Pouiré Yameogo, et al.
Published: (2025-09-01)

Sarcoidosis-like Skin Lesions as the First Manifestation of Ataxia-Telangiectasia
by: Borko Milanovic, et al.
Published: (2025-05-01)

Nutritional status and metabolic alterations in patients with ataxia-telangiectasia
by: Cristiano do Amaral de Leon, et al.
Published: (2025-07-01)

Ataxia telangiectasia: A report of two cousins and review of literature
by: Anjali Sharma, et al.
Published: (2011-01-01)

Ataxia telangiectasia in a Bahraini child treated with intensive physiotherapy: A case report
by: Fatima Razzaqi, et al.
Published: (2025-06-01)

Novel pathogenic ATM mutation with ataxia-telangiectasia in a Chinese family
by: Qiaomin Zhou, et al.
Published: (2024-11-01)

The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene A história da ataxia espinocerebelar tipo 10 no Brasil: as viagens de um gene
by: Hélio A.G. Teive, et al.
Published: (2007-12-01)