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Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models

Molecular neurobiology, 2023-11, Vol.60 (11), p.6362-6372

2023

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Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina

Frontiers in cell and developmental biology, 2019-03, Vol.7, p.41-41

Padiath, Quasar S

2019

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CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

Journal of the neurological sciences, 2015-11, Vol.358 (1), p.453-456

2015

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Concentric organization of A- and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear lamina

Proceedings of the National Academy of Sciences - PNAS, 2019-03, Vol.116 (10), p.4307-4315

2019

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Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

Molecular genetics & genomic medicine, 2021-04, Vol.9 (4), p.e1647-n/a

2021

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Expression of lamin C2 in mammalian oocytes

PloS one, 2020-04, Vol.15 (4), p.e0229781-e0229781

2020

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Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies

Nucleus (Austin, Tex.), 2016-11, Vol.7 (6), p.547-553

Padiath, Quasar S.

2016

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Lamin B1 duplications cause autosomal dominant leukodystrophy

Nature genetics, 2006-10, Vol.38 (10), p.1114-1123

2006

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Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

Nature, 2005-03, Vol.434 (7033), p.640-644

2005

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Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study

Neurology, 2020-11, Vol.95 (21), p.e2866

2020

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Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model

The Journal of clinical investigation, 2013-06, Vol.123 (6), p.2719-2729

2013

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Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression

The Journal of neuroscience, 2015-08, Vol.35 (34), p.12002-12017

2015

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LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family

Annals of the Indian Academy of Neurology, 2021-05, Vol.24 (3), p.413-416

2021

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Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy

SLAS discovery, 2020-09, Vol.25 (8), p.939-949

2020

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Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

Neurology. Genetics, 2019-02, Vol.5 (1), p.e305-e305

2019

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An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

BMC medical genetics, 2015-03, Vol.16 (1), p.16-16, Article 16

2015

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Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Neurology, 2014-11, Vol.83 (21), p.1898-1905

2014

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Correction: Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy

Nature genetics, 2007-02, Vol.39 (2), p.276

2007

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Erratum: Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy

Nature genetics, 2007-02, Vol.39 (2), p.276-276

2007

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Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy

Nature genetics, 2007-02, Vol.39 (2), p.276-276

2007

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Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome

Nature (London), 2005-03, Vol.434 (7033), p.640-644

2005

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LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family

Annals of Indian Academy of Neurology, 2021, Vol.24 (3), p.413-416

2021

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Enhanced differentiation of the mouse oli-neu oligodendroglial cell line using optimized culture conditions

BMC research notes, 2023-08, Vol.16 (1), p.161-161, Article 161

2023

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Conditional depletion of Fus in oligodendrocytes leads to motor hyperactivity and increased myelin deposition associated with Akt and cholesterol activation

Glia, 2020-10, Vol.68 (10), p.2040-2056

2020

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TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

eLife, 2020-05, Vol.9

2020

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Understanding the Ultra-Rare Disease Autosomal Dominant Leukodystrophy: an Updated Review on Morpho-Functional Alterations Found in Experimental Models

Autosomal Dominant Leukodystrophy: A Disease of the Nuclear Lamina

CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation

Concentric organization of A- and B-type lamins predicts their distinct roles in the spatial organization and stability of the nuclear lamina

Deletion of conserved non‐coding sequences downstream from NKX2‐1: A novel disease‐causing mechanism for benign hereditary chorea

Expression of lamin C2 in mammalian oocytes

Lamin B1 mediated demyelination: Linking Lamins, Lipids and Leukodystrophies

Lamin B1 duplications cause autosomal dominant leukodystrophy

Functional consequences of a CKIδ mutation causing familial advanced sleep phase syndrome

Cardiac phenotype in ATP1A3 -related syndromes: A multicenter cohort study

Lamin B1 mediates cell-autonomous neuropathology in a leukodystrophy mouse model

Defects of Lipid Synthesis Are Linked to the Age-Dependent Demyelination Caused by Lamin B1 Overexpression

LMNB1 duplication-mediated autosomal dominant adult-onset leukodystrophy in an Indian family

Development and Optimization of a High-Content Analysis Platform to Identify Suppressors of Lamin B1 Overexpression as a Therapeutic Strategy for Autosomal Dominant Leukodystrophy

Genomic deletions upstream of lamin B1 lead to atypical autosomal dominant leukodystrophy

An atypical form of AOA2 with myoclonus associated with mutations in SETX and AFG3L2

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

Correction: Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy

Erratum: Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy

Corrigendum: Lamin B1 duplications cause autosomal dominant leukodystrophy

Functional consequences of a CKIdelta mutation causing familial advanced sleep phase syndrome

LMNB1 Duplication-Mediated Autosomal Dominant Adult-Onset Leukodystrophy in an Indian Family

Enhanced differentiation of the mouse oli-neu oligodendroglial cell line using optimized culture conditions

Conditional depletion of Fus in oligodendrocytes leads to motor hyperactivity and increased myelin deposition associated with Akt and cholesterol activation

TUBB4A mutations result in both glial and neuronal degeneration in an H-ABC leukodystrophy mouse model

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