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Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis

American journal of human genetics, 2007-04, Vol.80 (4), p.805-810

2007

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Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis

Acta neuropathologica communications, 2018-05, Vol.6 (1), p.36-36, Article 36

2018

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Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

Nature genetics, 1992-12, Vol.2 (4), p.288-291

1992

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Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

Nature genetics, 1996-09, Vol.14 (1), p.113-115

1996

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Myelination competent conditionally immortalized mouse Schwann cells

Journal of neuroscience methods, 2008-09, Vol.174 (1), p.25-30

2008

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Differentiation and proliferation of respiration-deficient human myoblasts

Biochimica et biophysica acta, 1993-03, Vol.1181 (1), p.63-67

1993

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Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

Nature genetics, 1993-09, Vol.5 (1), p.35-39

1993

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Identification of a Two Base Pair Deletion in Five Unrelated Families with Adrenoleukodystrophy: A Possible Hot Spot for Mutations

Biochemical and biophysical research communications, 1994-07, Vol.202 (2), p.647-653

1994

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Deletion of the serine 34 codon from the major peripheral myelin protein P 0 gene in Charcot-Marie-Tooth disease type 1B

Nature genetics, 1993-09, Vol.5 (1), p.35-39

1993

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Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

Human genetics, 1989-02, Vol.81 (3), p.287-288

1989

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Metallothionein in Menkes' disease: Induction in cultured muscle cells

Journal of the neurological sciences, 1990-12, Vol.100 (1), p.50-56

1990

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Distribution and characterization of a sandhoff disease-associated 50-kb deletion in the gene encoding the human β-hexosaminidase β-chain

Human genetics, 1990-08, Vol.85 (3), p.327-329

1990

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Collagen synthesis in cultured myoblasts and myotubes from patients with Duchenne muscular dystrophy

Journal of the neurological sciences, 1987-12, Vol.82 (1), p.271-280

1987

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The Membrane Attack Complex of the Complement System Is Essential for Rapid Wallerian Degeneration

The Journal of neuroscience, 2007-07, Vol.27 (29), p.7663-7672

2007

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Myelin and Axon Pathology in a Long-Term Study of PMP22-Overexpressing Mice

Journal of neuropathology and experimental neurology, 2011-05, Vol.70 (5), p.386-398

2011

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Soluble Complement Receptor 1 Protects the Peripheral Nerve from Early Axon Loss after Injury

The American journal of pathology, 2008-04, Vol.172 (4), p.1043-1052

2008

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Complement inhibition accelerates regeneration in a model of peripheral nerve injury

Molecular immunology, 2009-12, Vol.47 (2-3), p.302-309

2009

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Expression profiling of sciatic nerve in a Charcot-Marie-Tooth disease type 1a mouse model

Journal of neuroscience research, 2005-03, Vol.79 (6), p.825-835

2005

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Peroxisomes and peroxisomal functions in muscle: Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome

Experimental cell research, 1987-05, Vol.170 (1), p.147-152

1987

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Peroxisomes and peroxisomal functions in muscle

Experimental cell research, 1987-05, Vol.170 (1), p.147-152

1987

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Germline Mutation of INI1/SMARCB1 in Familial Schwannomatosis

Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures

Myelination competent conditionally immortalized mouse Schwann cells

Differentiation and proliferation of respiration-deficient human myoblasts

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

Identification of a Two Base Pair Deletion in Five Unrelated Families with Adrenoleukodystrophy: A Possible Hot Spot for Mutations

Deletion of the serine 34 codon from the major peripheral myelin protein P 0 gene in Charcot-Marie-Tooth disease type 1B

Demonstration of a Sandhoff disease-associated autosomal 50-kb deletion by field inversion gel electrophoresis

Metallothionein in Menkes' disease: Induction in cultured muscle cells

Distribution and characterization of a sandhoff disease-associated 50-kb deletion in the gene encoding the human β-hexosaminidase β-chain

Collagen synthesis in cultured myoblasts and myotubes from patients with Duchenne muscular dystrophy

The Membrane Attack Complex of the Complement System Is Essential for Rapid Wallerian Degeneration

Myelin and Axon Pathology in a Long-Term Study of PMP22-Overexpressing Mice

Soluble Complement Receptor 1 Protects the Peripheral Nerve from Early Axon Loss after Injury

Complement inhibition accelerates regeneration in a model of peripheral nerve injury

Expression profiling of sciatic nerve in a Charcot-Marie-Tooth disease type 1a mouse model

Peroxisomes and peroxisomal functions in muscle: Studies with muscle cells from controls and a patient with the cerebro-hepato-renal (Zellweger) syndrome

Peroxisomes and peroxisomal functions in muscle

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