Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation (Q34397849)

1 August 2017

Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation (English)

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1 August 2017

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Michaela Auer-Grumbach

1

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Michaela Auer-Grumbach

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Hanns Lochmüller

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Hanns Lochmüller

3

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Hans-Peter Hartung

11

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Hans-Peter Hartung

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Beate Schlotter-Weigel

2

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Gertrud Strobl-Wildemann

4

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Piet Auer-Grumbach

5

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Renate Fischer

6

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Hans Offenbacher

7

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Ernst Bernhard Zwick

8

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Tanja Robl

9

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Gerald Hartl

10

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Klaus Wagner

12

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Christian Windpassinger

13

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Austrian Peripheral Neuropathy Study Group

14

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1 March 2005

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57

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3

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415-424

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Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature

1 August 2017

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Hereditary motor peripheral neuropathy predominantly affecting the arms

21 January 2018

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Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.

21 January 2018

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Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

21 January 2018

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Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D).

21 January 2018

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Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

21 January 2018

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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

21 January 2018

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The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

21 January 2018

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Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

21 January 2018

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Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

21 January 2018

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Demyelination and axonal loss in multifocal motor neuropathy: distribution and relation to weakness.

21 January 2018

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The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/ANA.20410

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1 August 2017

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