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Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy

Neurology, 2021-02, Vol.96 (5), p.e798

2021

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Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

Acta neuropathologica, 2020-06, Vol.139 (6), p.1089-1104

2020

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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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Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

Communications biology, 2021-03, Vol.4 (1), p.355-355, Article 355

2021

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Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer‐assisted evaluation

Muscle & nerve, 2022-05, Vol.65 (5), p.560-567

2022

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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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Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

Molecular cell, 2002-07, Vol.10 (1), p.35-44

2002

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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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Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

Annals of neurology, 2003-12, Vol.54 (6), p.760-768

2003

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Nuclear RNA Foci in the Heart in Myotonic Dystrophy

Circulation research, 2005-11, Vol.97 (11), p.1152-1155

2005

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

Frontiers in neurology, 2018-03, Vol.9, p.118

2018

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Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy

Neurobiology of disease, 2012-01, Vol.45 (1), p.539-546

2012

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

American Journal of Physiology: Cell Physiology, 2007-04, Vol.292 (4), p.C1291-C1297

2007

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Toe-extension myotonia in myotonic dystrophy type 1

Neurology, 2015-07, Vol.85 (2), p.203-203

2015

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Myotonic disorders

Neurology India, 2008-07, Vol.56 (3), p.298-304

Mankodi, Ami

2008

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Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

Human molecular genetics, 2004-12, Vol.13 (24), p.3079-3088

2004

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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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Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

Human molecular genetics, 2006-07, Vol.15 (13), p.2087-2097

2006

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Consensus-based care recommendations for adults with myotonic dystrophy type 1

Neurology. Clinical practice, 2018-12, Vol.8 (6), p.507-520

2018

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Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

The Journal of biological chemistry, 2014-05, Vol.289 (19), p.13615-13626

2014

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Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

Journal of neurology, neurosurgery and psychiatry, 2021-11, Vol.92 (11), p.1186-1196

2021

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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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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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Skeletal Muscle Magnetic Resonance Biomarkers in GNE Myopathy

Intracellular calcium leak as a therapeutic target for RYR1-related myopathies

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

Myopathy associated LDB3 mutation causes Z-disc disassembly and protein aggregation through PKCα and TSC2-mTOR downregulation

Brief assessment of cognitive function in myotonic dystrophy: Multicenter longitudinal study using computer‐assisted evaluation

A Muscleblind Knockout Model for Myotonic Dystrophy

Expanded CUG Repeats Trigger Aberrant Splicing of ClC-1 Chloride Channel Pre-mRNA and Hyperexcitability of Skeletal Muscle in Myotonic Dystrophy

Myotonic Dystrophy in Transgenic Mice Expressing an Expanded CUG Repeat

Ribonuclear inclusions in skeletal muscle in myotonic dystrophy types 1 and 2

Nuclear RNA Foci in the Heart in Myotonic Dystrophy

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

Progressive myopathy in an inducible mouse model of oculopharyngeal muscular dystrophy

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

Toe-extension myotonia in myotonic dystrophy type 1

Myotonic disorders

Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons

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

Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy

Consensus-based care recommendations for adults with myotonic dystrophy type 1

Z-disc-associated, Alternatively Spliced, PDZ Motif-containing Protein (ZASP) Mutations in the Actin-binding Domain Cause Disruption of Skeletal Muscle Actin Filaments in Myofibrillar Myopathy

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

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)

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

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