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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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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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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

2015

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Myotonic disorders

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

Mankodi, Ami

2008

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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

2021

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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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Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G‑Actin

Biochemistry (Easton), 2017-04, Vol.56 (14), p.2061-2070

2017

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Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy

The Journal of general physiology, 2007-01, Vol.129 (1), p.79-94

2007

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Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

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

2014

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Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Journal of neuromuscular diseases, 2020-01, Vol.7 (2), p.153-166

2020

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Myotonic syndromes

Current opinion in neurology, 2002-10, Vol.15 (5), p.545-552

2002

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Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Journal of neurology, 2015-04, Vol.262 (4), p.1066-1068

2015

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Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy

Annals of clinical and translational neurology, 2016-12, Vol.3 (12), p.948-955

2016

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Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

Annals of clinical and translational neurology, 2017-09, Vol.4 (9), p.655-662

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

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

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

Toe-extension myotonia in myotonic dystrophy type 1

Myotonic disorders

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

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

Expression and Purification of ZASP Subdomains and Clinically Important Isoforms: High-Affinity Binding to G‑Actin

Muscle chloride channel dysfunction in two mouse models of myotonic dystrophy

Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

Myotonic syndromes

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

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