(Q52109539)

English

103rd ENMC international workshop: designing rational therapy of SMA based on the understanding of its pathophysiology, 18-20 January 2002, Naarden, The Netherlands.

scientific article published in February 2003

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scholarly article

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Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

103rd ENMC international workshop: designing rational therapy of SMA based on the understanding of its pathophysiology, 18-20 January 2002, Naarden, The Netherlands. (English)

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

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pathophysiology

1 reference

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author name string

Gerta Vrbová

1

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

Judith Melki

2

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

publication date

1 February 2003

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Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

Neuromuscular Disorders

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Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

13

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

2

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

173-178

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

Werdnig-Hoffmann disease: Proposal of a pathogenetic mechanism

1 reference

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Identification and characterization of a spinal muscular atrophy-determining gene

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The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn(-/-) mice and results in a mouse with spinal muscular atrophy

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A mouse model for spinal muscular atrophy

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Nuclear targeting defect of SMN lacking the C-terminus in a mouse model of spinal muscular atrophy

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Deletion of murine SMN exon 7 directed to skeletal muscle leads to severe muscular dystrophy

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SMNrp is an essential pre-mRNA splicing factor required for the formation of the mature spliceosome

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Identification of survival motor neuron as a transcriptional activator-binding protein.

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A direct interaction between the survival motor neuron protein and p53 and its relationship to spinal muscular atrophy.

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The exon 2b region of the spinal muscular atrophy protein, SMN, is involved in self-association and SIP1 binding

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Co-regulation of survival of motor neuron (SMN) protein and its interactor SIP1 during development and in spinal muscular atrophy

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Dependence of postnatal motoneurones on their targets: review and hypothesis

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Electromyography and muscle biopsy in infantile spinal muscular atrophy

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Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy

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Differential effect of nerve injury at birth on the activity pattern of reinnervated slow and fast muscles of the rat

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Blocking of NMDA receptors during a critical stage of development reduces the effects of nerve injury at birth on muscles and motoneurones.

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Htra2-beta 1 stimulates an exonic splicing enhancer and can restore full-length SMN expression to survival motor neuron 2 (SMN2)

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Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

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Identifiers

10.1016/S0960-8966(02)00198-0

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

22 April 2018

http://europepmc.org/abstract/MED/12565917

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