Literature DB >> 21909802

Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.

Michael M Dos Santos, Caspar Grond-Ginsbach, Suna Su Aksay, Bowang Chen, Sandrine Tchatchou, Nicole I Wolf, Marjo S van der Knaap, Armin J Grau.   

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Year:  2011        PMID： 21909802     DOI： 10.1007/s00415-011-6225-4

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


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  7 in total

1.  Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.

Authors:  Lisenka E L M Vissers; Samarth S Bhatt; Irene M Janssen; Zhilian Xia; Seema R Lalani; Rolph Pfundt; Katarzyna Derwinska; Bert B A de Vries; Christian Gilissen; Alexander Hoischen; Monika Nesteruk; Barbara Wisniowiecka-Kowalnik; Marta Smyk; Han G Brunner; Sau Wai Cheung; Ad Geurts van Kessel; Joris A Veltman; Pawel Stankiewicz
Journal:  Hum Mol Genet       Date:  2009-07-03       Impact factor: 6.150

2.  Genetic localization of an autosomal dominant leukodystrophy mimicking chronic progressive multiple sclerosis to chromosome 5q31.

Authors:  C M Coffeen; C E McKenna; A H Koeppen; N M Plaster; N Maragakis; J Mihalopoulos; J D Schwankhaus; K M Flanigan; R G Gregg; L J Ptácek; Y H Fu
Journal:  Hum Mol Genet       Date:  2000-03-22       Impact factor: 6.150

3.  Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23.

Authors:  Lena Marklund; Malin Melin; Atle Melberg; Vilmantas Giedraitis; Niklas Dahl
Journal:  Am J Med Genet B Neuropsychiatr Genet       Date:  2006-09-05       Impact factor: 3.568

4.  Lamin B1 duplications cause autosomal dominant leukodystrophy.

Authors:  Quasar S Padiath; Kazumasa Saigoh; Raphael Schiffmann; Hideaki Asahara; Takeshi Yamada; Anulf Koeppen; Kirk Hogan; Louis J Ptácek; Ying-Hui Fu
Journal:  Nat Genet       Date:  2006-09-03       Impact factor: 38.330

5.  MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Authors:  A Melberg; L Hallberg; H Kalimo; R Raininko
Journal:  AJNR Am J Neuroradiol       Date:  2006-04       Impact factor: 3.825

6.  Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.

Authors:  R Eldridge; C P Anayiotos; S Schlesinger; D Cowen; C Bever; N Patronas; H McFarland
Journal:  N Engl J Med       Date:  1984-10-11       Impact factor: 91.245

7.  A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.

Authors:  A Brussino; G Vaula; C Cagnoli; A Mauro; L Pradotto; D Daniele; E Di Gregorio; M Barberis; C Arduino; S Squadrone; M C Abete; N Migone; O Calabrese; A Brusco
Journal:  J Neurol Neurosurg Psychiatry       Date:  2009-02       Impact factor: 10.154
  7 in total
  12 in total

Review 1.  Recent advances in clinical neurogenetics.

Authors:  José Berciano
Journal:  J Neurol       Date:  2012-11-16       Impact factor: 4.849

Review 2.  The nuclear envelope: an intriguing focal point for neurogenetic disease.

Authors:  Howard J Worman; William T Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

3.  Pathway deregulation and expression QTLs in response to Actinobacillus pleuropneumoniae infection in swine.

Authors:  Gerald Reiner; Felix Dreher; Mario Drungowski; Doris Hoeltig; Natalie Bertsch; Martin Selke; Hermann Willems; Gerald Friedrich Gerlach; Inga Probst; Burkhardt Tuemmler; Karl-Heinz Waldmann; Ralf Herwig
Journal:  Mamm Genome       Date:  2014-08-14       Impact factor: 2.957

4.  Oculodentodigital Dysplasia: A Hypomyelinating Leukodystrophy with a Characteristic MRI Pattern of Brain Stem Involvement.

Authors:  I Harting; S Karch; U Moog; A Seitz; P J W Pouwels; N I Wolf
Journal:  AJNR Am J Neuroradiol       Date:  2019-05-02       Impact factor: 3.825

5.  Disruption of microglia histone acetylation and protein pathways in mice exhibiting inflammation-associated depression-like symptoms.

Authors:  Sandra L Rodriguez-Zas; Cong Wu; Bruce R Southey; Jason C O'Connor; Scott E Nixon; Robmay Garcia; Cynthia Zavala; Marcus Lawson; Robert H McCusker; Elena V Romanova; Jonathan V Sweedler; Keith W Kelley; Robert Dantzer
Journal:  Psychoneuroendocrinology       Date:  2018-06-30       Impact factor: 4.905

6.  ¹H-MR spectroscopy of adult-onset autosomal dominant leukodystrophy with autonomic symptoms.

Authors:  J Finnsson; A Melberg; R Raininko
Journal:  Neuroradiology       Date:  2013-05-01       Impact factor: 2.804

7.  Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia Caused by a Novel R782G Mutation in CSF1R.

Authors:  Nicola Foulds; Reuben J Pengelly; Simon R Hammans; James A R Nicoll; David W Ellison; Adam Ditchfield; Sarah Beck; Sarah Ennis
Journal:  Sci Rep       Date:  2015-05-15       Impact factor: 4.379

8.  LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.

Authors:  Johannes Finnsson; Jimmy Sundblom; Niklas Dahl; Atle Melberg; Raili Raininko
Journal:  Ann Neurol       Date:  2015-07-27       Impact factor: 10.422

9.  Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.

Authors:  Elisa Giorgio; Harshvardhan Rolyan; Laura Kropp; Anish Baswanth Chakka; Svetlana Yatsenko; Eleonora Di Gregorio; Daniela Lacerenza; Giovanna Vaula; Flavia Talarico; Paola Mandich; Camilo Toro; Eleonore Eymard Pierre; Pierre Labauge; Sabina Capellari; Pietro Cortelli; Filippo Pinto Vairo; Diego Miguel; Danielle Stubbolo; Lourenco Charles Marques; William Gahl; Odile Boespflug-Tanguy; Atle Melberg; Sharon Hassin-Baer; Oren S Cohen; Rastislav Pjontek; Armin Grau; Thomas Klopstock; Brent Fogel; Inge Meijer; Guy Rouleau; Jean-Pierre L Bouchard; Madhavi Ganapathiraju; Adeline Vanderver; Niklas Dahl; Grace Hobson; Alfredo Brusco; Alessandro Brussino; Quasar Saleem Padiath
Journal:  Hum Mutat       Date:  2013-05-28       Impact factor: 4.878

10.  Regulation of Myelination in the Central Nervous System by Nuclear Lamin B1 and Non-coding RNAs.

Authors:  Shu-Ting Lin; Mary Y Heng; Louis J Ptáček; Ying-Hui Fu
Journal:  Transl Neurodegener       Date:  2014-02-05       Impact factor: 8.014
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