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Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system

Scientific reports, 2023-01, Vol.13 (1), p.270-270, Article 270

2023

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A Muscleblind Knockout Model for Myotonic Dystrophy

Science (American Association for the Advancement of Science), 2003-12, Vol.302 (5652), p.1978-1980

2003

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Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

Science (American Association for the Advancement of Science), 2000-09, Vol.289 (5485), p.1769-1772

2000

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Progressive Degenerative Myofibrillar Myopathy in Knock-In Mice Expressing LDB3 p.A165V Protein: A Mouse Model for Markesbery-Griggs Distal Myopathy (S23.009)

Neurology, 2019-04, Vol.92 (15_supplement)

2019

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Disease progression in Myotonic Dystrophy Type 1 during a non-interventional multicenter study (S22.004)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Targeted Next Generation Sequencing (NGS) for Analysis of Splicing Biomarkers of Myotonic Dystrophy Type 1 (DM1) (S22.002)

Neurology, 2018-04, Vol.90 (15_supplement)

2018

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Oligomerization of ZASP, a Myofibrillar Myopathy Gene Product, In Vitro and In Vivo (P1.058)

Neurology, 2014-04, Vol.82 (10_supplement)

2014

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Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Concentric exercise effects on skeletal muscle water T2 in Duchenne muscular dystrophy (P2.131)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Upper arm, pulmonary and cardiac magnetic resonance imaging for relative disease status in Duchenne muscular dystrophy (P1.130)

Neurology, 2017-04, Vol.88 (16_supplement)

2017

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Mutations In Zaspopathy Cause Disruption Of Actinin-Crosslinked Actin Filaments, The Core Structure Of Skeletal Muscle Z-discs (S61.007)

Neurology, 2014-04, Vol.82 (10_supplement)

2014

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Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in a trial of exon-skipping for boys with Duchenne muscular dystrophy (P5.052)

Neurology, 2015-04, Vol.84 (14_supplement)

2015

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Peripheral Neuropathy in a Family with Sandhoff Disease and SH3TC2 Deficiency (P2.031)

Neurology, 2015-04, Vol.84 (14_supplement)

2015

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Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

American Journal of Physiology: Cell Physiology, 2007, Vol.61 (4)

2007

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11

Annals of clinical and translational neurology, 2014-06, Vol.1 (6), p.379-389

2014

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Chapter 94 - The Distal Myopathies

Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease, 2015, p.1131-1143

Fifth Edition, 2015

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Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Frontiers in neurology, 2018, Vol.9, p.118-118

2018

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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Journal of neurology, 2015, Vol.262 (4), p.1066-1068

2015

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Chapter 110 - Metabolic Myopathies

Office Practice of Neurology, p.713-718

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Expression of LIM domain-binding 3 (LDB3), a striated muscle Z-band alternatively spliced PDZ-motif protein in the nervous system

A Muscleblind Knockout Model for Myotonic Dystrophy

Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

Progressive Degenerative Myofibrillar Myopathy in Knock-In Mice Expressing LDB3 p.A165V Protein: A Mouse Model for Markesbery-Griggs Distal Myopathy (S23.009)

Disease progression in Myotonic Dystrophy Type 1 during a non-interventional multicenter study (S22.004)

Targeted Next Generation Sequencing (NGS) for Analysis of Splicing Biomarkers of Myotonic Dystrophy Type 1 (DM1) (S22.002)

Oligomerization of ZASP, a Myofibrillar Myopathy Gene Product, In Vitro and In Vivo (P1.058)

Diagnostic Challenges due to Atypical presentations of CMT in Charcot Marie Tooth Disease type 4C associated with SH3TC2 mutations (P5.124)

Concentric exercise effects on skeletal muscle water T2 in Duchenne muscular dystrophy (P2.131)

Upper arm, pulmonary and cardiac magnetic resonance imaging for relative disease status in Duchenne muscular dystrophy (P1.130)

Mutations In Zaspopathy Cause Disruption Of Actinin-Crosslinked Actin Filaments, The Core Structure Of Skeletal Muscle Z-discs (S61.007)

Skeletal muscle, cardiac, and pulmonary imaging biomarkers of disease activity in a trial of exon-skipping for boys with Duchenne muscular dystrophy (P5.052)

Peripheral Neuropathy in a Family with Sandhoff Disease and SH3TC2 Deficiency (P2.031)

Chloride channelopathy in myotonic dystrophy resulting from loss of posttranscriptional regulation for CLCN1

Lysosomal abnormalities in hereditary spastic paraplegia types SPG 15 and SPG 11

Chapter 94 - The Distal Myopathies

Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Chapter 110 - Metabolic Myopathies

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