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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

American journal of human genetics, 2016-05, Vol.98 (5), p.1038-1046

2016

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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

American journal of human genetics, 2016-06, Vol.98 (6), p.1271-1271

2016

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Glutamate Potentiates the Toxicity of Mutant Cu/Zn-Superoxide Dismutase in Motor Neurons by Postsynaptic Calcium-Dependent Mechanisms

The Journal of neuroscience, 1998-12, Vol.18 (23), p.9673-9684

1998

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High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2

Neurology, 2017-09, Vol.89 (13), p.1348-1354

2017

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II genotype of the angiotensin-converting enzyme gene increases the risk for subarachnoid hemorrhage from ruptured aneurysm

Stroke (1970), 2004-07, Vol.35 (7), p.1594-1597

2004

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The expansions of ALS

Neurology, 2012-08, Vol.79 (9), p.842-843

2012

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Epigenetic hypomethylation in FSHD: it's not what you inherit, it's whether it shows

Neurology, 2014-08, Vol.83 (8), p.674-675

2014

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A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Nature genetics, 2001-10, Vol.29 (2), p.166-173

2001

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Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35

Nature genetics, 1994-07, Vol.7 (3), p.425-428

1994

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Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis

Brain (London, England : 1878), 2002-07, Vol.125 (7), p.1522-1533

2002

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Up‐Regulation of Protein Chaperones Preserves Viability of Cells Expressing Toxic Cu/Zn‐Superoxide Dismutase Mutants Associated with Amyotrophic Lateral Sclerosis

Journal of neurochemistry, 1999-02, Vol.72 (2), p.693-699

1999

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Proteasomes remain intact, but show early focal alteration in their composition in a mouse model of amyotrophic lateral sclerosis

Journal of neurochemistry, 2008-06, Vol.105 (6), p.2353-2366

2008

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Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress

Neuromuscular disorders : NMD, 2003-05, Vol.13 (4), p.322-333

2003

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Paraoxonase 2 Gene C311S Polymorphism Is Associated with a Risk of Large Vessel Disease Stroke in a Polish Population

Cerebrovascular diseases (Basel, Switzerland), 2007-05, Vol.23 (5-6), p.395-400

2007

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Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2004-04, Vol.126B (1), p.46-50

2004

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A2 alelle of GpIIIa gene is a risk factor for stroke caused by large-vessel disease in males

Stroke (1970), 2004-07, Vol.35 (7), p.1589-1593

2004

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Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation

Biochemical and biophysical research communications, 2009-11, Vol.389 (2), p.279-283

2009

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Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis

Journal of neurochemistry, 2002-09, Vol.82 (5), p.1118-1128

2002

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Clinical implications of the genetics of ALS and other motor neuron diseases

Neurology, 2001-07, Vol.57 (1), p.9-17

2001

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If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)

Contemporary clinical trials, 2012-03, Vol.33 (2), p.302-311

2012

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Coagulation Factor XIII VaI34Leu Polymorphism in Patients with Small Vessel Disease or Primary Intracerebral Hemorrhage

Cerebrovascular diseases (Basel, Switzerland), 2005, Vol.19 (3), p.165-170

2005

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Nitrotyrosination contributes minimally to toxicity of mutant SOD1 associated with ALS

Neuroreport, 2001-05, Vol.12 (6), p.1239-1243

2001

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Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations

Neuroscience letters, 2001-04, Vol.302 (2), p.146-150

2001

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Developing a consortium for ALS clinical research: the Canadian ALS Research Network

Clinical investigation, 2013-12, Vol.3 (12), p.1113-1117

2013

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Cells from individuals with SOD-1 associated familial amyotrophic lateral sclerosis do not have an increased susceptibility to radiation-induced free radical production or DNA damage

Journal of the neurological sciences, 1999-03, Vol.164 (1), p.89-92

1999

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Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Mutations in CAPN1 Cause Autosomal-Recessive Hereditary Spastic Paraplegia

Glutamate Potentiates the Toxicity of Mutant Cu/Zn-Superoxide Dismutase in Motor Neurons by Postsynaptic Calcium-Dependent Mechanisms

High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2

II genotype of the angiotensin-converting enzyme gene increases the risk for subarachnoid hemorrhage from ruptured aneurysm

The expansions of ALS

Epigenetic hypomethylation in FSHD: it's not what you inherit, it's whether it shows

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35

Mitochondrial dysfunction in a cell culture model of familial amyotrophic lateral sclerosis

Up‐Regulation of Protein Chaperones Preserves Viability of Cells Expressing Toxic Cu/Zn‐Superoxide Dismutase Mutants Associated with Amyotrophic Lateral Sclerosis

Proteasomes remain intact, but show early focal alteration in their composition in a mouse model of amyotrophic lateral sclerosis

Facioscapulohumeral muscular dystrophy (FSHD) myoblasts demonstrate increased susceptibility to oxidative stress

Paraoxonase 2 Gene C311S Polymorphism Is Associated with a Risk of Large Vessel Disease Stroke in a Polish Population

Alleles of a reelin CGG repeat do not convey liability to autism in a sample from the CPEA network

A2 alelle of GpIIIa gene is a risk factor for stroke caused by large-vessel disease in males

Reduction of a 4q35-encoded nuclear envelope protein in muscle differentiation

Selective loss of neurofilament expression in Cu/Zn superoxide dismutase (SOD1) linked amyotrophic lateral sclerosis

Clinical implications of the genetics of ALS and other motor neuron diseases

If you build a rare disease registry, will they enroll and will they use it? Methods and data from the National Registry of Myotonic Dystrophy (DM) and Facioscapulohumeral Muscular Dystrophy (FSHD)

Coagulation Factor XIII VaI34Leu Polymorphism in Patients with Small Vessel Disease or Primary Intracerebral Hemorrhage

Nitrotyrosination contributes minimally to toxicity of mutant SOD1 associated with ALS

Cultured glial cells are resistant to the effects of motor neurone disease-associated SOD1 mutations

Developing a consortium for ALS clinical research: the Canadian ALS Research Network

Cells from individuals with SOD-1 associated familial amyotrophic lateral sclerosis do not have an increased susceptibility to radiation-induced free radical production or DNA damage

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