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Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

Neuron (Cambridge, Mass.), 2014-04, Vol.82 (2), p.295-307

2014

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Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X‐linked muscular dystrophy in a cat

Journal of veterinary internal medicine, 2024-01, Vol.38 (1), p.135-144

2024

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Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy

Journal of veterinary internal medicine, 2023-11, Vol.37 (6), p.2504-2509

2023

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Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs

PloS one, 2018-02, Vol.13 (2), p.e0193372-e0193372

2018

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Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

Journal of veterinary internal medicine, 2022-01, Vol.36 (1), p.279-284

2022

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X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat

Journal of veterinary internal medicine, 2022-09, Vol.36 (5), p.1800-1805

2022

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Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates

Journal of veterinary internal medicine, 2021-09, Vol.35 (5), p.2409-2414

2021

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Nesprin 1 is critical for nuclear positioning and anchorage

Human molecular genetics, 2010-01, Vol.19 (2), p.329-341

2010

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Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia

Animals (Basel), 2024-06, Vol.14 (13), p.1946

2024

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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

Proceedings of the National Academy of Sciences - PNAS, 2010-08, Vol.107 (33), p.14697-14702

2010

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Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs

Animals (Basel), 2024-02, Vol.14 (5), p.722

2024

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A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat

Animals (Basel), 2022-10, Vol.12 (21), p.2928

2022

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Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation

Journal of veterinary internal medicine, 2020-01, Vol.34 (1), p.258-265

2020

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A novel mutation in CLCN1 associated with feline myotonia congenita

PloS one, 2014-10, Vol.9 (10), p.e109926-e109926

2014

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A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome

PloS one, 2014-08, Vol.9 (8), p.e106425

2014

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Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D

Skeletal muscle, 2021-01, Vol.11 (1), p.2-2, Article 2

2021

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Dysphagia and esophageal dysfunction due to dystrophin deficient muscular dystrophy in a male Spanish water spaniel

The Veterinary quarterly, 2018-12, Vol.38 (1), p.28-32

2018

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Secretion of amyloidogenic gelsolin progressively compromises protein homeostasis leading to the intracellular aggregation of proteins

Proceedings of the National Academy of Sciences - PNAS, 2009-07, Vol.106 (27), p.11125-11130

2009

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Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Skeletal muscle, 2017-07, Vol.7 (1), p.15-15, Article 15

2017

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Dystrophin-Deficient Muscular Dystrophy in Two Male Juvenile Brittanys

The Journal of the American Animal Hospital Association, 2022-11, Vol.58 (6), p.292-296

2022

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Exonisation of an intronic L1 element in the dystrophin gene associated with X‐linked muscular dystrophy in a Border Collie dog

Animal genetics, 2024-10, Vol.55 (5), p.733-743

2024

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Congenital Myasthenic Syndrome in a Mixed Breed Dog

Frontiers in veterinary science, 2017-10, Vol.4, p.173

2017

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Myositis, Ganglioneuritis, and Myocarditis with Distinct Perifascicular Muscle Atrophy in a 2-Year-Old Male Boxer

Frontiers in veterinary science, 2018-02, Vol.5, p.20

2018

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Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle

Human molecular genetics, 2014-11, Vol.23 (22), p.5879-5892

2014

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A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds

Human genetics, 2019-05, Vol.138 (5), p.509-513

2019

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Muscle Expression of Mutant Androgen Receptor Accounts for Systemic and Motor Neuron Disease Phenotypes in Spinal and Bulbar Muscular Atrophy

Precision medicine using whole genome sequencing identifies a novel dystrophin (DMD) variant for X‐linked muscular dystrophy in a cat

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich‐like congenital muscular dystrophy

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs

Congenital muscular dystrophy in a dog with a LAMA2 gene deletion

X‐linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat

Congenital dyserythropoiesis and polymyopathy without cardiac disease in male Labrador retriever littermates

Nesprin 1 is critical for nuclear positioning and anchorage

Multi-Allelic Mitochondrial DNA Deletions in an Adult Dog with Chronic Weakness, Exercise Intolerance and Lactic Acidemia

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

Variants in CLCN1 and PDE4C Associated with Muscle Hypertrophy, Dysphagia, and Gait Abnormalities in Young French Bulldogs

A Nonsense Variant in the DMD Gene Causes X-Linked Muscular Dystrophy in the Maine Coon Cat

Congenital myasthenic syndrome in Golden Retrievers is associated with a novel COLQ mutation

A novel mutation in CLCN1 associated with feline myotonia congenita

A COLQ missense mutation in Labrador Retrievers having congenital myasthenic syndrome

Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D

Dysphagia and esophageal dysfunction due to dystrophin deficient muscular dystrophy in a male Spanish water spaniel

Secretion of amyloidogenic gelsolin progressively compromises protein homeostasis leading to the intracellular aggregation of proteins

Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers

Dystrophin-Deficient Muscular Dystrophy in Two Male Juvenile Brittanys

Exonisation of an intronic L1 element in the dystrophin gene associated with X‐linked muscular dystrophy in a Border Collie dog

Congenital Myasthenic Syndrome in a Mixed Breed Dog

Myositis, Ganglioneuritis, and Myocarditis with Distinct Perifascicular Muscle Atrophy in a 2-Year-Old Male Boxer

Disruption of both nesprin 1 and desmin results in nuclear anchorage defects and fibrosis in skeletal muscle

A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds

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