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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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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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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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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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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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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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Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Muscle & nerve, 2018-05, Vol.57 (5), p.749-755

2018

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Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2

Human molecular genetics, 2001-09, Vol.10 (19), p.2165-2170

2001

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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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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

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

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

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

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

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)

Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2

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

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