1 |
A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).
61
24
|
Giorgio E...Brusco A
|
25701871 |
2015 |
2 |
LMNB1-related autosomal-dominant leukodystrophy: Clinical and radiological course.
24
|
Finnsson J...Raininko R
|
26053668 |
2015 |
3 |
Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression.
24
|
Rolyan H...Padiath QS
|
26311780 |
2015 |
4 |
Messenger RNA processing is altered in autosomal dominant leukodystrophy.
24
|
Bartoletti-Stella A...Capellari S
|
25637521 |
2015 |
5 |
Consensus statement on preventive and symptomatic care of leukodystrophy patients.
24
|
Van Haren K...GLIA Consortium
|
25577286 |
2015 |
6 |
Metachromatic leukodystrophy: Disease spectrum and approaches for treatment.
24
|
van Rappard DF...Wolf NI
|
25987178 |
2015 |
7 |
Vitamin B12 deficiency: an important reversible co-morbidity in neuropsychiatric manifestations.
24
|
Issac TG...Chandra SR
|
25722508 |
2015 |
8 |
Lamin B1 overexpression increases nuclear rigidity in autosomal dominant leukodystrophy fibroblasts.
24
|
Ferrera D...Gasparini L
|
24858279 |
2014 |
9 |
Guidelines for the diagnosis and treatment of cobalamin and folate disorders.
24
|
Devalia V...British Committee for Standards in Haematology
|
24942828 |
2014 |
10 |
A practical approach to diagnosing adult onset leukodystrophies.
24
|
Ahmed RM...Chataway J
|
24357685 |
2014 |
11 |
Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype.
24
|
Abdelhalim AN...Duffner PK
|
24262341 |
2014 |
12 |
Nuclear envelope: connecting structural genome organization to regulation of gene expression.
24
|
Stancheva I...Schirmer EC
|
24563350 |
2014 |
13 |
Adult-onset autosomal dominant leukodystrophy without early autonomic dysfunctions linked to lamin B1 duplication: a phenotypic variant.
24
|
Potic A...Taroni F
|
23681646 |
2013 |
14 |
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expression.
24
|
Giorgio E...Padiath QS
|
23649844 |
2013 |
15 |
Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model.
24
|
Heng MY...Fu YH
|
23676464 |
2013 |
16 |
Oct-1 recruitment to the nuclear envelope in adult-onset autosomal dominant leukodystrophy.
24
|
Columbaro M...Lattanzi G
|
23261988 |
2013 |
17 |
Nuclear lamins in the brain - new insights into function and regulation.
24
|
Jung HJ...Fong LG
|
23065386 |
2013 |
18 |
Nuclear lamin functions and disease.
24
|
Butin-Israeli V...Goldman RD
|
22795640 |
2012 |
19 |
Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication.
24
|
Dos Santos MM...Grau AJ
|
21909802 |
2012 |
20 |
Magnetic resonance imaging findings within the posterior and lateral columns of the spinal cord extended from the medulla oblongata to the thoracic spine in a woman with subacute combined degeneration without hematologic disorders: a case report and review of the literature.
24
|
Rabhi S...Bono W
|
21524288 |
2011 |
21 |
Genomic duplications mediate overexpression of lamin B1 in adult-onset autosomal dominant leukodystrophy (ADLD) with autonomic symptoms.
24
|
Schuster J...Dahl N
|
21225301 |
2011 |
22 |
Isolated noradrenergic failure in adult-onset autosomal dominant leukodystrophy.
24
|
Guaraldi P...Cortelli P
|
20719577 |
2011 |
23 |
A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations.
24
|
Brussino A...Brusco A
|
19961535 |
2010 |
24 |
Autosomal dominant leukodystrophy caused by lamin B1 duplications a clinical and molecular case study of altered nuclear function and disease.
24
|
Padiath QS...Fu YH
|
20816241 |
2010 |
25 |
A novel family with Lamin B1 duplication associated with adult-onset leucoencephalopathy.
24
|
Brussino A...Brusco A
|
19151023 |
2009 |
26 |
MR imaging characteristics and neuropathology of the spinal cord in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.
24
|
Sundblom J...Raininko R
|
18945794 |
2009 |
27 |
A novel duplication confirms the involvement of 5q23.2 in autosomal dominant leukodystrophy.
24
|
Meijer IA...Rouleau GA
|
19001169 |
2008 |
28 |
The earliest MR imaging and proton MR spectroscopy abnormalities in adult-onset Krabbe disease.
24
|
Wang C...Raininko R
|
17824908 |
2007 |
29 |
Lamin B1 duplications cause autosomal dominant leukodystrophy.
24
|
Padiath QS...Fu YH
|
16951681 |
2006 |
30 |
Adult-onset autosomal dominant leukodystrophy with autonomic symptoms restricted to 1.5 Mbp on chromosome 5q23.
24
|
Marklund L...Dahl N
|
16823806 |
2006 |
31 |
MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms.
24
|
Melberg A...Raininko R
|
16611789 |
2006 |
32 |
MR imaging and proton MR spectroscopy in adult Krabbe disease.
24
|
Farina L...Wenger DA
|
11003282 |
2000 |
33 |
Multiple sclerosis.
24
|
Noseworthy JH...Weinshenker BG
|
11006371 |
2000 |
34 |
MRI and CT in an autosomal-dominant, adult-onset leukodystrophy.
24
|
Bergui M...Quattrocolo G
|
9225322 |
1997 |
35 |
Autosomal dominant late-onset leukoencephalopathy. Clinical report of a new Italian family.
24
|
Quattrocolo G...Bergamini L
|
9018034 |
1997 |
36 |
Chromosomal assignment of human nuclear envelope protein genes LMNA, LMNB1, and LBR by fluorescence in situ hybridization.
24
|
Wydner KL...Lawrence JB
|
8838815 |
1996 |
37 |
Genomic structure of the mouse gene (Lmnb1) encoding nuclear lamin B1.
24
|
Maeno H...Nakajima N
|
8586436 |
1995 |
38 |
Structural organization of the human gene (LMNB1) encoding nuclear lamin B1.
24
|
Lin F...Worman HJ
|
7557986 |
1995 |
39 |
Clinical and pathological features of an autosomal dominant, adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.
24
|
Schwankhaus JD...McFarland H
|
8042923 |
1994 |
40 |
Computed tomography and magnetic resonance imaging in adult-onset leukodystrophy.
24
|
Schwankhaus JD...McFarland H
|
3415518 |
1988 |
41 |
Hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis.
24
|
Eldridge R...McFarland H
|
6472420 |
1984 |
42 |
New diagnostic criteria for multiple sclerosis: guidelines for research protocols.
24
|
Poser CM...Tourtellotte WW
|
6847134 |
1983 |
43 |
Allele-specific silencing as treatment for gene duplication disorders: proof-of-principle in autosomal dominant leukodystrophy.
61
|
Giorgio E...Brusco A
|
31143934 |
2019 |
44 |
Duplication and deletion upstream of LMNB1 in autosomal dominant adult-onset leukodystrophy.
61
|
Mezaki N...Ikeuchi T
|
30697589 |
2018 |
45 |
Adulthood leukodystrophies.
61
|
Kohler W...Vanderver A
|
29302065 |
2018 |
46 |
An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis.
61
|
Dai Y...Jin L
|
28769756 |
2017 |
47 |
Autosomal Dominant Leukodystrophy with Autonomic Disease
61
|
Nahhas N...Padiath Q
|
26749591 |
2016 |