Results 11 to 20 of about 46,967 (195)
Stem Cell Research, 2021 Ataxia Telangiectasia is a rare autosomal recessive disorder caused by a mutated ATM gene. The most debilitating symptom of Ataxia Telangiectasia is the progressive neurodegeneration of the cerebellum, though the molecular mechanisms driving this ...
Hannah C. Leeson +5 more
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Infections in Ataxia-Telangiectasia
Pediatric Neurology Briefs, 2004 Immunodeficiency and infections were determined in 100 consecutive patients with ataxia-telangiectasia (A-T) seen at the Johns Hopkins Ataxia-Telangiectasia Clinical Center.
J Gordon Millichap
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Seminars in Pediatric Neurology, 1998 The cloning of ATM in 1995, the gene responsible for ataxia-telangiectasia, opened a dimension of biological research that is as complex and intriguing to cell biologists as this classic disorder has been to clinicians for four decades. The phenotype is both variable and stereotyped, with significant differences between patients in the rate of ...
Huret, JL, JL Huret
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Stem cell models in ataxia-telangiectasia [PDF]
Neural Regeneration ResearchAtaxia-telangiectasia is a rare neurodegenerative disease with a complex phenotype, which has recently been associated with alterations in metabolism, inadequate responses to oxidative stress and inflammation, as well as increased cardiovascular and ...
Maria Talmon +2 more
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Pediatric Neurology Briefs, 1990 The proportion of T-cell antigen receptors in ten patients with ataxia-telangiectasia were compared with normal subjects and patients with other immune deficits at the Departments of Clinical Immunology and Pediatrics, University of Rome, “la Sapienza ...
J Gordon Millichap
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Arquivos de Neuro-Psiquiatria, 1966 São apresentados os casos de dois irmãos com ataxia-telangiectasia, estudados sob os pontos de vista clínico, eletrencefalográfico, liquórico e encefalográfico.
Nelson Pires Ferreira
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Ataxia-telangiectasia: future prospects
The Application of Clinical Genetics, 2014 Mohammed Wajid Chaudhary, Raidah Saleem Al-Baradie Pediatric Neurology, Neurosciences Centre, King Fahad Specialist Hospital, Dammam, Kingdom of Saudi Arabia Abstract: Ataxia-telangiectasia (A-T) is an autosomal recessive multi-system disorder caused by
Chaudhary MW, Al-Baradie RS
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]
Journal of Integrative Neuroscience, 2020 Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
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Ataxia-Telangiectasia Familiar: Un reporte de casos
Revista de la Facultad de Medicina, 2023 Ataxia Telangiectasia (A-T) es una enfermedad autosómica recesiva (OMIM #208900) con afección neurológica severa, como primer síntoma típico siendo la ataxia cerebelosa.
Anna Yurrita +3 more
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Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia [PDF]
, 2020 BackgroundAtaxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Prasad, Manish +14 more
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