(Q53344748)

English

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands.

scientific article published in June 1999

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scholarly article

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Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/10399757

59th ENMC International Workshop: Spinal Muscular Atrophies: recent progress and revised diagnostic criteria 17-19 April 1998, Soestduinen, The Netherlands. (English)

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/10399757

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author name string

Zerres K

1

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/10399757

Davies KE

2

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Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/10399757

publication date

1 June 1999

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http://europepmc.org/abstract/MED/10399757

Neuromuscular Disorders

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13 May 2018

http://europepmc.org/abstract/MED/10399757

9

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Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/10399757

4

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Europe PubMed Central

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http://europepmc.org/abstract/MED/10399757

272-278

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13 May 2018

http://europepmc.org/abstract/MED/10399757

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

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Arthrogryposis due to infantile neuronal degeneration associated with deletion of the SMNT gene

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Infantile spinal muscular atrophy (SMA) and multiple congenital bone fractures in sibs: a lethal new syndrome

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Survival motor neuron gene deletion in the arthrogryposis multiplex congenita-spinal muscular atrophy association

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When is a deletion not a deletion? When it is converted

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Genomic variation and gene conversion in spinal muscular atrophy: implications for disease process and clinical phenotype

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SMN gene deletions in adult-onset spinal muscular atrophy

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Apparent SMA I unlinked to 5q.

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Clinical and molecular genetic features of congenital spinal muscular atrophy.

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Olivopontocerebellar hypoplasia with anterior horn cell involvement (SMA) does not localize to chromosome 5q

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Synergistic anti-apoptotic activity between Bcl-2 and SMN implicated in spinal muscular atrophy

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Medical therapy in spinal muscular atrophy: a realistic expectation?

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A gene for a severe lethal form of X-linked arthrogryposis (X-linked infantile spinal muscular atrophy) maps to human chromosome Xp11.3-q11.2.

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Congenital axonal neuropathy caused by deletions in the spinal muscular atrophy region.

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Correlation between severity and SMN protein level in spinal muscular atrophy

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The role of the SMN gene in proximal spinal muscular atrophy

1 reference

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A novel nuclear structure containing the survival of motor neurons protein

1 reference

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SMN oligomerization defect correlates with spinal muscular atrophy severity

1 reference

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7 January 2021

based on heuristic

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Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number

1 reference

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7 January 2021

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De novo and inherited deletions of the 5q13 region in spinal muscular atrophies

1 reference

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Axonal neuropathy and predominance of type II myofibers in infantile spinal muscular atrophy

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7 January 2021

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Autosomal dominant spinal muscular atrophy: a clinical and genetic study

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A clinical and genetic study of spinal muscular atrophy of adult onset: the autosomal recessive form as a discrete disease entity

1 reference

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Clinical variability of autosomal dominant spinal muscular atrophy

1 reference

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Exclusion of the gene locus for spinal muscular atrophy on chromosome 5q in a family with infantile olivopontocerebellar atrophy (OPCA) and anterior horn cell degeneration

1 reference

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Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

1 reference

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Is Werdnig-Hoffmann disease a pure lower motor neuron disorder?

1 reference

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De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling

1 reference

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Quantitative analysis of survival motor neuron copies: identification of subtle SMN1 mutations in patients with spinal muscular atrophy, genotype-phenotype correlation, and implications for genetic counseling

1 reference

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7 January 2021

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Elevation of neuronal expression of NAIP reduces ischemic damage in the rat hippocampus

1 reference

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7 January 2021

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Genetic basis of adult-onset spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1016%2FS0960-8966%2899%2900016-4

7 January 2021

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Spinal muscular atrophy--clinical and genetic correlations

1 reference

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7 January 2021

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inferred from DOI database lookup

Identifiers

10.1016/S0960-8966(99)00016-4

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/10399757

1 reference

Europe PubMed Central

13 May 2018

http://europepmc.org/abstract/MED/10399757

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