Literature DB >> 25270678

X-linked agammaglobulinemia with hearing impairment, dystonia-parkinsonism, and progressive neurodegeneration.

Aloysius Domingo1, Thomas G P M Schmidt, Ela Barcelon, Marissa Lukban, Ana Westenberger, Christine Klein.   

Abstract

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Year:  2014        PMID： 25270678     DOI： 10.1007/s00415-014-7483-8

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  9 in total

1.  Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

Authors:  M Vihinen; S P Kwan; T Lester; H D Ochs; I Resnick; J Väliaho; M E Conley; C I Smith
Journal:  Hum Mutat       Date:  1999       Impact factor: 4.878

2.  Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment.

Authors:  Ulrike H M Ziegner; Roger H Kobayashi; Charlotte Cunningham-Rundles; Teresa Español; Anders Fasth; Anna Huttenlocher; Paul Krogstad; Lars Marthinsen; Luigi D Notarangelo; Srdjan Pasic; Christian H L Rieger; Peter Rudge; Raman Sankar; Ann O Shigeoka; E Richard Stiehm; Kathleen E Sullivan; A David Webster; Hans D Ochs
Journal:  Clin Immunol       Date:  2002-01       Impact factor: 3.969

3.  X-linked agammaglobulinemia: report on a United States registry of 201 patients.

Authors:  Jerry A Winkelstein; Mary C Marino; Howard M Lederman; Stacie M Jones; Kathleen Sullivan; A Wesley Burks; Mary Ellen Conley; Charlotte Cunningham-Rundles; Hans D Ochs
Journal:  Medicine (Baltimore)       Date:  2006-07       Impact factor: 1.889

4.  A case of X-linked agammaglobulinemia with progressive encephalitis.

Authors:  Naohide Shiroma; Tsuyoshi Omi; Hideki Hasegawa; Kazuo Nagashima; Takao Ohta
Journal:  Pediatr Neurol       Date:  2004-11       Impact factor: 3.372

5.  Bruton's tyrosine kinase phosphorylates cAMP-responsive element-binding protein at serine 133 during neuronal differentiation in immortalized hippocampal progenitor cells.

Authors:  Eun Jin Yang; Joo-Heon Yoon; Kwang Chul Chung
Journal:  J Biol Chem       Date:  2003-11-03       Impact factor: 5.157

6.  Contiguous X-chromosome deletion syndrome encompassing the BTK, TIMM8A, TAF7L, and DRP2 genes.

Authors:  Anna Sedivá; C I Edvard Smith; A Charlotta Asplund; Jan Hadac; Ales Janda; Jirí Zeman; Hana Hansíková; Lenka Dvoráková; Lenka Mrázová; Sirje Velbri; Carla Koehler; Karin Roesch; Kathleen E Sullivan; Takeshi Futatani; Hans D Ochs
Journal:  J Clin Immunol       Date:  2007-09-12       Impact factor: 8.317

7.  A progressive, fatal dystonia-Parkinsonism syndrome in a patient with primary immunodeficiency receiving chronic IVIG therapy.

Authors:  Spiridon Papapetropoulos; Jennifer Friedman; Craig Blackstone; Gary I Kleiner; Brian C Bowen; Carlos Singer
Journal:  Mov Disord       Date:  2007-08-15       Impact factor: 10.338

8.  Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).

Authors:  Marija Velickovic; Madhuri L Prasad; Susan A Weston; Elizabeth M Benson
Journal:  Hum Mutat       Date:  2004-04       Impact factor: 4.878

9.  Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study.

Authors:  Beáta Tóth; Alla Volokha; Alexander Mihas; Malgorzata Pac; Ewa Bernatowska; Irina Kondratenko; Alexander Polyakov; Melinda Erdos; Srdjan Pasic; Michaela Bataneant; Anna Szaflarska; Kristina Mironska; Darko Richter; Katarina Stavrik; Tadej Avcin; Gabriella Márton; Kálmán Nagy; Beáta Dérfalvi; Miklós Szolnoky; Agnes Kalmár; Michael Belevtsev; Marina Guseva; Aurica Rugina; Gergely Kriván; László Timár; Zoltán Nyul; Bernadett Mosdósi; Lidija Kareva; Sonja Peova; Liudmyla Chernyshova; Ioan Gherghina; Margit Serban; Mary Ellen Conley; Luigi D Notarangelo; C I Edvard Smith; Jacques van Dongen; Mirjam van der Burg; László Maródi
Journal:  Mol Immunol       Date:  2009-05-05       Impact factor: 4.407
  9 in total
  1 in total

1.  Clinical and genetic findings in two siblings with X-Linked agammaglobulinemia and bronchiolitis obliterans: a case report.

Authors:  Ronaldo da Silva Francisco Junior; Guilherme Loss de Morais; Joseane Biso de Carvalho; Cristina Dos Santos Ferreira; Alexandra Lehmkuhl Gerber; Ana Paula de C Guimarães; Flávia Anisio Amendola; Fernanda Pinto-Mariz; Zilton Farias Meira de Vasconcelos; Ekaterini Simões Goudouris; Ana Tereza Ribeiro de Vasconcelos
Journal:  BMC Pediatr       Date:  2022-04-05       Impact factor: 2.125
  1 in total

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