關於 ataxia telangiectasia ，我們在網路上蒐集到這些相關的討論、資訊與評價

#11. Ataxia-Telangiectasia Mutated Modulation of Carbon ...

The ataxia-telangiectasia mutated (ATM) protein kinase has been extensively studied for its role in the DNA damage response and its ...

#12. Ataxia telangiectasia - Orphanet

Ataxia -telangiectasia ... A rare disorder characterized by the association of severe combined immunodeficiency (affecting mainly the humoral immune response) with ...

#13. Ataxia-telangiectasia: from a rare disorder to a paradigm for ...

Ataxia -telangiectasia (A-T) is a rare human genetic disorder that is characterized by cancer predisposition, neurodegeneration, immunodeficiency, ...

#14. Ataxia Telangiectasia - an overview | ScienceDirect Topics

Ataxia telangiectasia is a rare childhood disease with autosomal-recessive traits. Ataxia refers to the abnormal and uncoordinated movements and telangiectasias ...

#15. Ataxia-Telangiectasia (for Parents) - Nemours KidsHealth

Ataxia -telangiectasia happens when a change (mutation) in the gene that makes a protein called ATM protein. Children born with the condition inherited two ...

#16. A DIAGNOSTIC CHALLENGE. CASE REPORT - SciELO ...

Ataxia -telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene.

#17. Ataxia-Telangiectasia | Children's Hospital of Philadelphia

Ataxia -telangiectasia (AT) is a rare inherited condition that affects the nervous system, the immune system and other body systems.

#18. Ataxia-telangiectasia | DermNet NZ

Ataxia -telangiectasia is an autosomal recessive disease in which one ataxia-telangiectasia gene has been inherited from each parent.

#19. Definition of ataxia-telangiectasia - NCI Dictionary of Cancer ...

ataxia -telangiectasia ... A rare, inherited, progressive, degenerative disease of childhood that causes loss of muscle control, a weakened immune system, and an ...

#20. Ataxia-Telangiectasia | Immune Deficiency Foundation

Ataxia -Telangiectasia (A-T) is an inherited disease that affects several body systems, including the immune system. People with A-T have an unsteady, ...

#21. Ataxia-Telangiectasia - Immunology; Allergic Disorders - MSD ...

Ataxia -telangiectasia results from a DNA repair defect that frequently results in humoral and cellular deficiency; it causes progressive cerebellar ataxia, ...

#22. Ataxia Telangiectasia: Neoplasia, Untoward Response to X

ATAXIA telangiectasia is an inherited disorder characterized by progressive cerebellar ataxia and oculocutaneous telangiectasia. ... Generally these patients have ...

#23. AT Children's Project: Homepage

We drive innovative research, develop potential therapies, organize scientific conferences and sponsor a multidisciplinary clinical center for ataxia- ...

#24. Ataxia-Telangiectasia - St. Jude Children's Research Hospital

Ataxia -telangiectasia is a rare genetic condition that affects the nervous system, immune system and other body systems. Children with this condition have ...

#25. ATM and the Molecular Pathogenesis of Ataxia Telangiectasia

Ataxia telangiectasia (A-T) results from inactivation of the ATM protein kinase. DNA-damage signaling is a prime function of this kinase, although other ...

#26. Incidence of Cancer in 161 Families Affected by Ataxia ...

Abstract Background. Ataxia—telangiectasia is an autosomal recessive syndrome in which cancers develop in affected homozygotes at a rate ...

#27. POMS: DI 23022.360 - Ataxia Telangiectasia - Social Security

Ataxia Telangiectasia (AT) is a rare, inherited childhood neurological disorder that causes degeneration in the part of the brain that ...

#28. Multidisciplinary Management of Ataxia Telangiectasia | JMDH

Abstract: Ataxia telangiectasia (A-T) is a rare autosomal recessive disease caused by mutations in the ataxia telangiectasia mutated (ATM) gene.

#29. Molecular pathology of ataxia telangiectasia

Ataxia telangiectasia (A-T) is inherited in an autosomal recessive manner and results in a progressive neurological disorder resulting from cerebellar ...

#30. Ataxia-telangiectasia: Treating Mitochondrial Dysfunction With ...

Condition or disease, Intervention/treatment, Phase. Ataxia Telangiectasia, Dietary Supplement: Triheptanoin, Phase 2 ...

#31. Ataxia Telangiectasia (A-T) | Johns Hopkins Medicine

Ataxia telangiectasia (A-T) is a rare, inherited disease that affects several organs and systems, including the nervous and the immune systems.

#32. Ataxia telangiectasia | Radiology Reference Article

Ataxia -telangiectasia is a rare multisystem disorder that carries an autosomal recessive inheritance, sometimes classified as a phakomatosis ...

#33. Current and potential therapeutic strategies for the treatment ...

Abstract. Ataxia-telangiectasia (A-T) is a rare autosomal recessive genetic disorder characterized by progressive neurodegeneration, ...

#34. Ataxia telangiectasia – PM&R KnowledgeNow

Ataxia telangiectasia (AT) is an autosomal recessive, multisystem disorder caused by homozygous or compound heterozygous mutations of the ATM (ataxia ...

#35. Molecular Bases of Ataxia Telangiectasia: One Kinase ...

Ataxia Telangiectasia (A-T) is an autosomal recessive hereditary progressive neurodegenerative and multisystem disease characterized by cerebellar ataxia, ...

#36. Ataxia - telangiectasia - UF Health

Telangiectasias appear as tiny, red, spider-like veins. Alternative Names. Louis-Bar syndrome. Causes. Ataxia-telangiectasia is inherited. This ...

#37. Ataxia-telangiectasia Definition & Meaning - Merriam-Webster

The meaning of ataxia-telangiectasia is an inherited systemic disorder marked especially by progressive pathological changes in the nervous system resulting ...

#38. ERS statement on the multidisciplinary respiratory ...

Ataxia telangiectasia (A-T) (Louis-Bar syndrome; OMIM 208900) is an autosomal recessive disorder caused by mutations in the gene ATM (ataxia-telangiectasia ...

#39. Adult-onset variant ataxia-telangiectasia diagnosed by exome ...

Ataxia -telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in ATM, encoding a serine-threonine protein kinase that ...

#40. Gene Found for Fatal Childhood Disease, Ataxia-Telangiectasia

Scientists have isolated the gene and identified mutations that cause the childhood disease ataxia-telangiectasia (A-T), a rare hereditary ...

#41. A novel, ataxic mouse model of ataxia telangiectasia caused ...

Ataxia Telangiectasia (A-T) and Ataxia with Ocular Apraxia Type 1 (AOA1) are devastating neurological disorders caused by null mutations in ...

#42. Types - - - Ataxia - NHS

Ataxia -telangiectasia (AT) is a rarer type of hereditary ataxia. Symptoms usually begin in early childhood, although they can sometimes develop later.

#43. Ataxia-Telangiectasia-Mutated (ATM) Gene in Head and Neck ...

The Ataxia-telangiectasia-mutated (ATM) gene product is a well-characterized tumor suppressor that plays a key role in maintenance of genomic stability.

#44. ATM and ataxia telangiectasia - EMBO Press

Ataxia telangiectasia (AT) is a neurodegenerative disease that occurs early in childhood (Gatti et al, 2001; Sedgwick & Boder, 1991). Clinically ...

#45. Ataxia with Telangiectasia. Louis-bar syndrome information ...

Ataxia -telangiectasia (A-T) is a rare autosomal recessive disorder.The gene responsible has been localised to 11q22.3-23.1.

#46. Ataxia telangiectasia - SciELO

Ataxia -telangiectasia is an autosomal recessive disorder caused by mutation in the ATM gene. Symptoms are characterized by progressive cerebellar ataxia, ...

#47. Ataxia - Symptoms and causes - Mayo Clinic

Friedreich's ataxia. This common hereditary ataxia involves damage to your cerebellum, spinal cord and peripheral nerves. · Ataxia-telangiectasia ...

#48. Pathogenesis of ataxia-telangiectasia: the next generation of ...

In 1988, the gene responsible for the autosomal recessive disease ataxia- telangiectasia (A-T) was localized to 11q22.3-23.1.

#49. Ataxia-Telangiectasia: Causes and Risk Factors - Verywell ...

Ataxia -telangiectasia is a rare type of genetic disease caused by a gene mutation known as ATM (ataxia-telangiectasia mutation).1 This means ...

#50. Full article: Ataxia telangiectasia syndrome: moonlighting ATM

Introduction: Ataxia-telangiectasia (A-T) a multisystem disorder primarily characterized by cerebellar degeneration, telangiectasia, immunodeficiency, ...

#51. Ataxia Telangiectasia (A-T) | Cedars-Sinai

Ataxia telangiectasia is a rare childhood disease that affects the nervous system and other body systems. It is an inherited disease.

#52. Ataxia-Telangiectasia Syndrome - Usmle case based discussion

Ataxia -telangiectasia (AT), also known as Louis-Bar syndrome, is an autosomal recessive, multisystem disorder characterized by progressive ...

#53. Causes of Ataxia Telangiectasia | Stanford Health Care

Ataxia telangiectasia is caused by mutations in a gene on chromosome 11 known as the ATM gene, which is involved in cell cycle control.

#54. Ataxia Telangiectasia Picture Image on MedicineNet.com

Ataxia telangiectasia is a progressive neurodegenerative genetic disease characterized by cerebellar ataxia (incoordination and lack of balance), ocular ...

#55. Ataxia Telangiectasia (A-T) - Stanford Children's Health

Ataxia -telangiectasia is a rare childhood disease that affects the nervous system and other body systems. It is an inherited disease.

#56. Ataxia telangiectasia - Socialstyrelsen

Ataxia telangiectasia är en fortskridande sjukdom där rörelseförmågan samt samordningen av rörelser i armar och ben påverkas i sådan grad att ...

#57. Ataxia Telangiectasia Article - StatPearls

Ataxia telangiectasia is due to mutations of the ATM gene, located on chromosome 11q22-23.[1] A mutation of the ATM gene is responsible for ...

#58. Ataxia-telangiectasia | Osmosis

Ataxia telangiectasia develops when a genetic mutation causes the lack of a protein called ataxia telangiectasia mutated serine-threonine kinase, or just ATM ...

#59. Novel homozygous ataxia‑telangiectasia (A‑T) mutated gene ...

Ataxia ‑telangiectasia (A‑T) syndrome is a rare autosomal recessive disorder mainly caused by mutations in the A‑T mutated (ATM) gene.

#60. Ataxia Telangiectasia (AT) | Kennedy Krieger Institute

Ataxia telangiectasia (AT) is a rare, progressive, neurodegenerative childhood disease that affects the nervous system and other body systems.

#61. ATAXIA-TELANGIECTASIA - AAP Publications - American ...

ATAXIA -TELANGIECTASIA : A Familial Syndrome of Progressive Cerebellar Ataxia, Oculocutaneous Telangiectasia and Frequent Pulmonary Infection. Elena Boder;.

#62. Ataxia-Telangiectasia Clinical and Laboratory Features

Ataxia -telangiectasia (A-T) is characterized by progressive cerebellar ataxia, oculocutaneous telangiectasia, chronic sinopulmonary disease, ...

#63. Ataxia Telangiectasia | The Oncofertility Consortium

Ataxia Telangiectasia (A-T) has a frequency of approximately 1 in 40,000 births in the United States[1]. The carrier rate of A-T, ...

#64. Ataxia-Telangiectasia - Myriad Women's Health

Ataxia -telangiectasia (A-T) is an inherited disease characterized by the loss of one's ability to coordinate movement (ataxia), a weakening of the immune ...

#65. serum-alpha-fetoprotein levels in patients with ataxia ...

per ml. Thus ataxia-telangiectasia seems to be unique among the major immunodeficiency diseases in its association with a raised α-fetoprotein ...

#66. Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia - Cell ...

Ataxia-telangiectasia a human mutation giving high-frequency misrepair of DNA double-stranded scissions. ... Ataxia telangiectasia an investigation of the repair ...

#67. Ataxia-Telangiectasia (Pediatric) | ColumbiaDoctors - New York

What is Ataxia-Telangiectasia? Ataxia-Telangiectasia (A-T) is a rare, inherited disease that causes severe disability. It presents with an unsteady, ...

#68. Ataxia-Telangiectasia (ATM) - PreventionGenetics

Ataxia Telangiectasia (A-T) is characterized by early onset (1-4 years) progressive cerebellar ataxia, telangiectasias of the conjunctivae, ...

#69. Ataxia telangiectasia mutated (Atm) is not required for ... - PNAS

Ataxia telangiectasia mutated (Atm) is the major sensor of DNA double-strand breaks in mammalian cells ( 1). Cells that are deficient in Atm ...

#70. Ataxia-Telangiectasia disease - MalaCards

NINDS : Ataxia-telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and ...

#71. Six Novel ATM Gene Variants in Sri Lankan Patients with ...

They may also have ocular telangiectasias and high levels of blood alpha-fetoprotein (AFP). The ataxia telangiectasia mutated gene (ATM) is associated with this ...

#72. Classic ataxia-telangiectasia: the phenotype of long-term ...

Ataxia telangiectasia (A–T) is a neurodegenerative disorder caused by mutations in the ATM gene, coding for an enzyme that plays a role in cell ...

#73. Ataxia Telangiectasia Presenting with Absent IgG, IgA, and ...

Ataxia Telangiectasia (AT) is a multisystem autosomal recessive disorder ... ocular and cutaneous telangiectasias, and susceptibility to malignancy.

#74. Ataxia-Telangiectasia and variants - Atlas of Genetics and ...

Nuclear retention of ATM at sites of DNA double strand breaks. · Molecular genotyping shows that ataxia-telangiectasia heterozygotes are predisposed to breast ...

#75. Disorders of Upper Limb Movements in Ataxia-Telangiectasia

Ataxia -telangiectasia is known for cerebellar degeneration, but clinical descriptions of abnormal tone, posture, and movements suggest ...

#76. Ataxia Telangiectasia - ESID - European Society for ...

Male or female patient with progressive cerebellar ataxia and three out of the following four findings: Ocular or facial telangiectasia; Serum IgA at least ...

#77. Ataxia‐Telangiectasia Mutated Kinase - AHA Journals

Ataxia ‐Telangiectasia Mutated Kinase: A Potential New Target for Suppressing Inflammation in Heart Failure? Rakesh C. Kukreja; PhD.

#78. Ataxia-telangiectasia genetic test by Ambry Genetics

Ataxia -telangiectasia is an autosomal recessive neurogenetic condition characterized by progressive cerebellar ataxia, telangiectasias, and an increased ...

#79. Ataxia-telangiectasia - OAText

She was examined by a neurologist and noted to have severe cerebellar ataxia, bilateral telangiectasia in the bulbar conjunctiva, sclera and the back of her ...

#80. 3-methyl-1-(tetrahydro-2H-pyran-4-yl) - ACS Publications

The Identification of Potent, Selective, and Orally Available Inhibitors of Ataxia Telangiectasia Mutated (ATM) Kinase: The Discovery of AZD0156 ...

#81. Ataxia-Telangiectasia - immunoHIC

Ataxia -telangiectasia (AT) is a multisystem disorder caused by mutations in the ATM gene. ATM encodes a protein involved in the control of cell division by ...

#82. Ataxia-Telangiectasia | CancerIndex

BACKGROUND: Ataxia telangiectasia (AT) is a rare, multi-systemic, genetic disorder. Mutations in the ATM gene cause dysfunction in cell-cycle, ...

#83. Abnormal White Matter Signal in Ataxia Telangiectasia

Ataxia telangiectasia is a multisystem disease characterized by cerebellar ataxia, oculomucocutaneous telangiectasias, and susceptibility to ...

#84. Ataxia Telangiectasia Mutated-Dependent Apoptosis after ...

Ataxia-telangiectasia (A-T) is a neurodegenerative syndrome resulting from dysfunction of ATM (ataxia telangiectasia mutated).

#85. Ataxia Telangiectasia (A-T) - Massachusetts General Hospital

Ataxia -telangiectasia is a rare childhood disease that affects the nervous system and other body systems. It is an inherited disease.

#86. Ataxia-telangiectasia - Applied Radiology

Ataxia -telangiectasia is chiefly characterized by progressive cerebellar ataxia, conjunctival and cutaneous telangiectasias, severe immune ...

#87. Ataxia Telangiectasia (AT) - Health Encyclopedia

Ataxia -telangiectasia is a rare childhood disease that affects the nervous system and other body systems. It is an inherited disease.

#88. Myelin pathology in ataxia-telangiectasia is the cell-intrinsic ...

Ataxia -telangiectasia (A-T) is a rare genetic disease caused by mutations in the gene encoding the ATM (Ataxia-telangiectasia mutated) protein.

#89. Helpful information about ataxia-telangiectasia - Eugene Labs

There is no cure, and treatment is focussed on managing symptoms. Quick facts about ataxia-telangiectasia. Genes: ATM. Inheritance: Autosomal Recessive ...

#90. Variant Ataxia-Telangiectasia Can Elude Diagnosis for Years

The investigators looked at gene mutations as well as other clinical features. The ataxia telangiectasia mutated (ATM) gene, located on ...

#91. Ataxia Telangiectasia - BrainFacts.org

Ataxia -telangiectasia is a rare, childhood neurological disorder that causes degeneration in the part of the brain that controls motor movements and speech.

#92. WHAT IS ATAXIA TELANGIECTASIA (A-T)? - Action for A-T

A-T is a rare, degenerative condition that affects many different parts of the body and generally appears in · Symptoms progressively worsen, leading to full- ...

#93. Invitae Ataxia-Telangiectasia Test

Genetic testing for ATM which is associated with autosomal recessive ataxia-telangiectasia (A-T).

#94. Ataxia Telangiectasia Overview - News-Medical

The condition affects 1 in 40,000 to 100,000 people in the world and is considered a rare disease. The other names of ataxia telangiectasia ...

#95. Ataxia-telangiectasia syndrome - VisualDx

The responsible gene (ATM gene) causes defective DNA repair due to exposure to UV, gamma, and X-radiation. The disease is reported worldwide ...

#96. Clinical manifestations of ataxia telangiectasia | Download Table

... Clinically, ataxia telangiectasia is characterized by cerebellar degeneration, oculocutaneous telangiectasia, immunodeficiency with RTIs, Imaging Features ...

#97. Ataxia - telangiectasia | Lima Memorial Health System

Ataxia -telangiectasia is a rare childhood disease. It affects the brain and other parts of the body. Ataxia refers to uncoordinated ...

#98. ATAXIA TELANGIECTASIA | ORD India

It is Classic A-T is characterised by cerebellar ataxia , ocular telangiectasia, immunodeficiency(mainly low IgA), frequent infections and ...

#99. Ataxia Telangiectasia - Causes & Symptoms - Dr Habib Pathan

Ataxia telangiectasia is also known as Louis-Bar syndrome. It is a very rare childhood genetic disorder that occurs in about 1 in 50,000 to 100000 children ...