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Treatment of Granulomas in Patients With Ataxia Telangiectasia.
Hits: 2414
TNF inhibitors
ataxia telangiectasia
granulomas
granulomatous inflammation
primary immunodeficiency
2018
Woelke S
Valesky E
Bakhtiar S
Pommerening H
Pfeffermann LM
Schubert R
Zielen S
Front Immunol
Germany
Ataxia-telangiectasia: A review of movement disorders, clinical features and genotype correlations - Addendum.
Hits: 2025
ataxia telangiectasia
2018
Levy A
Lang AE
Mov Disord
ataxia
choreoathetosis
dystonia
myoclonus
parkinsonism
phenomenology
Canada
Ataxia-telangiectasia: A review of movement disorders, clinical features, and genotype correlations.
Hits: 1958
ataxia telangiectasia
Levy A
Lang AE
ataxia
choreoathetosis
dystonia
myoclonus
parkinsonism
phenomenology
Canada
Secondary enuresis and urological manifestations in children with ataxia telangiectasia.
Hits: 2052
ataxia telangiectasia
2018
Israel
Eur J Paediatr Neurol
ATM
Incontinence
Neurogenic bladder
Urinary tract
Nissenkorn A
Erlich T
Zilberman DE
Sarouk I
Krauthammer A
Kitrey ND
Heimer G
BenZeev B
Mor Y
P 111 - Rehabilitation results in children with ataxia telengiectasia: three case reports.
Hits: 1985
2018
rehabilitation
Turkey
Cankaya O
Seyhan K
Günel MK
Gait Posture
Elevated IgM levels as a marker for a unique phenotype in patients with Ataxia telangiectasia.
Hits: 2025
2018
Israel
Sarouk I
Krauthammer A
BMC Pediatr
Lahad A
Goldberg L
Weiss B
Somech R
Soudack M
Pessach IM
Class switching
Complications
Elevated IgM
Immunoglobulins
Lung functions
Phenotype
B-cell subsets imbalance and reduced expression of CD40 in ataxia-telangiectasia patients.
Hits: 2069
ataxia telangiectasia
2018
Brazil
Allergol Immunopathol (Madr)
Pereira CTM
Bichuetti-Silva DC
da Mota NVF
Salomão R
Brunialti MKC
Costa-Carvalho BT
B cells
Cd21low
CD40
CD40L
IgM memory B cells
Switched memory B cells
A novel variant in ATM gene causes ataxia telangiectasia revealed by whole-exome sequencing.
Hits: 1910
2018
ATM
Alonazi NA
Hundallah KJ
Al Hashem AM
Mohamed S
Genetic
mutation
Saudi Arabia
case
A Case of Ataxia-telangiectasia Presented With Hemophagocytic Syndrome.
Hits: 1976
2018
Turkey
Genetic
Celiksoy MH
Ozyavuz Cubuk P
Guner SN
Yildiran A
J Pediatr Hematol Oncol
hemophagocytic syndrome
case
Inflammation, a significant player of Ataxia-Telangiectasia pathogenesis?
Hits: 1987
ataxia telangiectasia
2018
ATM
Iran
Zaki-Dizaji M
Akrami SM
Azizi G
Abolhassani H
Aghamohammadi A
Infammation
Neurodegeneration
Reactive oxygen species
Senescence
Sweden
Inflamm Res
Minimum effective betamethasone dosage on the neurological phenotype in patients with ataxia-telangiectasia: a multicenter observer-blind study.
Hits: 1995
ataxia telangiectasia
primary immunodeficiency
2018
Italy
Eur J Neurol
Pignata C
Cirillo E
Del Giudice E
Micheli R
Cappellari AM
Soresina A
Dellepiane RM
Pietrogrande MC
Dell'Era L
Specchia F
Pession A
Plebani A
SARA scale
ataxia and gait disorders
betamethasone
Dexamethasone partially rescues ataxia telangiectasia-mutated (ATM) deficiency in ataxia telangiectasia by promoting a shortened protein variant retaining kinase activity.
Hits: 1951
ataxia
Italy
2012
Menotta M
Biagiotti S
Bianchi M
Chessa L
Magnani M
J Biol Chem
dexamethasone
Alternative Splicing
Genetic Diseases
Glucocorticoids
Translation
SDR-mediated Splicing
Atm reactivation reverses ataxia telangiectasia phenotypes in vivo.
Hits: 1972
ataxia telangiectasia
2018
Italy
United States of America
Cell Death Dis
Di Siena S
Campolo F
Gimmelli R
Di Pietro C
Marazziti D
Dolci S
Lenzi A
Nussenzweig A
Pellegrini M
DNA double-strand break repair
ATM kinase
mouse model
Comparison of Selected Parameters of Redox Homeostasis in Patients with Ataxia-Telangiectasia and Nijmegen Breakage Syndrome.
Hits: 2006
Poland
2017
Oxid Med Cell Longev
Pietrucha B
Heropolitanska-Pliszka E
Maciejczyk M
Car H
Sawicka-Powierza J
Motkowski R
Karpinska J
Hryniewicka M
Zalewska A
Pac M
Wolska-Kusnierz B
Bernatowska E
redox homeostasis
coenzyme Q10 (CoQ10)
vitamin A
vitamin E
Nijmegen breakage syndrome (NBS)
T-cell prolymphocytic leukemia in an adolescent with ataxia-telangiectasia: novel approach with a JAK3 inhibitor (tofacitinib).
Hits: 1930
United States of America
2017
Blood Adv
Li G
Waite E
Wolfson J
T-cell prolymphocytic leukemia
JAK3 inhibitor
tofacitinib
T-cell
chemotherapy
Long-term nutritional and gastrointestinal aspects in patients with ataxia telangiectasia.
Hits: 1977
2018
Israel
Nissenkorn A
Sarouk I
Krauthammer A
Lahad A
Weiss B
Somech R
Nutrition
Levi-Kidron H
Sadeh-Kon T
BMI-Z
Caloric intake
Percutaneous gastrostomy
Nutritional
Telangiectasias in Ataxia Telangiectasia: Clinical significance, role of ATM deficiency and potential pathophysiological mechanisms.
Hits: 1998
2018
United Kingdom
The Netherlands
ATM kinase
Eur J Med Genet
telangiectasias
angiogenesis
Schoenaker MHD
Van Os NJH
Van der Flier M
Van Deuren M
Seyger MM
Taylor AMR
Weemaes CMR
Willemsen MAAP
More than ataxia - Movement disorders in ataxia-telangiectasia.
Hits: 1955
2018
ataxia
Canada
Brazil
ataxia and gait disorders
Parkinsonism Relat Disord
Teive HAG
Camargo CHF
Munhoz RP
Movement disorders
Neurofibromatosis type-1 in a patient with ataxia-telangiectasia.
Hits: 2016
Turkey
2017
Neurofibromatosis type-1
J Cancer Res Ther
Kupeli S
Characteristic Eye Movements in Ataxia-Telangiectasia-Like Disorder: An Explanatory Hypothesis.
Hits: 1937
Italy
United States of America
2017
Front Neurol
eye movements
Ataxia-Telangiectasia-Like Disorder
Federighi P
Ramat S
Pretegiani E
Federico A
Rufa A
Purkinje cells
granule cells
parallel fibers
saccade hypermetria
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Bibliography
Authors
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