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Spinal Muscular Atrophy: More than a Disease of Motor Neurons?

Current molecular medicine, 2016-01, Vol.16 (9), p.779

2016

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At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression

Current molecular medicine, 2013-08, Vol.13 (7), p.1160

2013

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Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

Human molecular genetics, 2014-05, Vol.23 (10), p.2694-2710

2014

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The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx1/Dlx2 bigene cluster

The Journal of neuroscience, 2012-06, Vol.32 (24), p.8219-8230

2012

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The role of the TWEAK/Fn14 pathway in muscle pathology in SMA

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S30-S30

2017

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The glucocorticoid-KLF15-BCAA pathway as a novel therapeutic target for spinal muscular atrophy

Neuromuscular disorders : NMD, 2017-03, Vol.27, p.S28-S29

2017

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The utrophin A 5′-UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2

Human molecular genetics, 2010-04, Vol.19 (7), p.1211-1220

2010

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A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus

Experimental cell research, 2006-01, Vol.312 (2), p.121-134

2006

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The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice

Brain research, 2008-08, Vol.1226, p.33-38

2008

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[P1.46]: The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx transcription factors

International journal of developmental neuroscience, 2010-12, Vol.28 (8), p.671-671

2010

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The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin

Neuroscience, 2006, Vol.137 (2), p.531-536

2006

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Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue

Brain research, 2007-01, Vol.1129 (1), p.142-146

2007

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SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

Molecular and cellular neuroscience, 2009-08, Vol.42 (1), p.66-74

2009

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Inducible expression of an hsp68-lacZ hybrid gene in transgenic mice

Development (Cambridge), 1989-04, Vol.105 (4), p.707-714

1989

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Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity

Development (Cambridge), 2005-01, Vol.132 (1), p.177-187

2005

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Integrin-linked kinase regulates process extension in oligodendrocytes via control of actin cytoskeletal dynamics

The Journal of neuroscience, 2013-06, Vol.33 (23), p.9781-9793

2013

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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S57

2018

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SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.90The shifting landscape of SMA: development of a new mild mouse model to better understand disease in aging

Neuromuscular disorders : NMD, 2018-10, Vol.28, p.S57-S57

2018

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REGISTRIES AND CARE OF NMD: EP.342 Uniting the Canadian NMD community: One year of the neuromuscular disease network for Canada (NMD4C)

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S154-S154

2021

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REGISTRIES AND CARE OF NMD

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S154

2021

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P.119 - Abnormal fatty acid metabolism is a feature of spinal muscular atrophy

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S132-S133

2017

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Abnormal fatty acid metabolism is a feature of spinal muscular atrophy

Neuromuscular disorders : NMD, 2017-10, Vol.27, p.S132-S133

2017

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REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD: P.348 NMD4C: A new neuromuscular disease network for Canada

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S147-S148

2020

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REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD

Neuromuscular disorders : NMD, 2020-10, Vol.30, p.S147-S148

2020

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Cloning and Characterization of the Neural Isoforms of Human Dystonin

Genomics (San Diego, Calif.), 1995-10, Vol.29 (3), p.777-780

1995

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Spinal Muscular Atrophy: More than a Disease of Motor Neurons?

At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression

Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI

The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx1/Dlx2 bigene cluster

The role of the TWEAK/Fn14 pathway in muscle pathology in SMA

The glucocorticoid-KLF15-BCAA pathway as a novel therapeutic target for spinal muscular atrophy

The utrophin A 5′-UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2

A Bpag1 isoform involved in cytoskeletal organization surrounding the nucleus

The number of nociceptors in the trigeminal ganglion but not proprioceptors in the mesencephalic trigeminal tract nucleus is reduced in dystonin deficient dystonia musculorum mice

[P1.46]: The Rb/E2F pathway modulates neurogenesis through direct regulation of the Dlx transcription factors

The survival of vagal and glossopharyngeal sensory neurons is dependent upon dystonin

Dystonin deficiency reduces taste buds and fungiform papillae in the anterior part of the tongue

SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

Inducible expression of an hsp68-lacZ hybrid gene in transgenic mice

Chx10 repression of Mitf is required for the maintenance of mammalian neuroretinal identity

Integrin-linked kinase regulates process extension in oligodendrocytes via control of actin cytoskeletal dynamics

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES

SMA CLINICAL DATA, OUTCOME MEASURES AND REGISTRIES: P.90The shifting landscape of SMA: development of a new mild mouse model to better understand disease in aging

REGISTRIES AND CARE OF NMD: EP.342 Uniting the Canadian NMD community: One year of the neuromuscular disease network for Canada (NMD4C)

REGISTRIES AND CARE OF NMD

P.119 - Abnormal fatty acid metabolism is a feature of spinal muscular atrophy

Abnormal fatty acid metabolism is a feature of spinal muscular atrophy

REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD: P.348 NMD4C: A new neuromuscular disease network for Canada

REGISTRIES, CARE, QUALITY OF LIFE, MANAGEMENT OF NMD

Cloning and Characterization of the Neural Isoforms of Human Dystonin

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