Intrafamilial variability in GMPPB -associated dystroglycanopathy

Broadening of the phenotype

Diana X. Bharucha-Goebel, Erin Neil, Sandra Donkervoort, Jahannaz Dastgir, Edythe Wiggs, Thomas L. Winder, Steven A. Moore, Susan T. Iannaccone, Carsten G. Bönnemann

Research output: Contribution to journalArticle

11 Citations (Scopus)
Original languageEnglish (US)
Pages (from-to)1495-1497
Number of pages3
JournalNeurology
Volume84
Issue number14
DOIs
StatePublished - Apr 7 2015

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Nucleotidyltransferases
Muscular Dystrophies
Young Adult
Phenotype

ASJC Scopus subject areas

  • Clinical Neurology

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Bharucha-Goebel, D. X., Neil, E., Donkervoort, S., Dastgir, J., Wiggs, E., Winder, T. L., ... Bönnemann, C. G. (2015). Intrafamilial variability in GMPPB -associated dystroglycanopathy: Broadening of the phenotype. Neurology, 84(14), 1495-1497. https://doi.org/10.1212/WNL.0000000000001440

Intrafamilial variability in GMPPB -associated dystroglycanopathy : Broadening of the phenotype. / Bharucha-Goebel, Diana X.; Neil, Erin; Donkervoort, Sandra; Dastgir, Jahannaz; Wiggs, Edythe; Winder, Thomas L.; Moore, Steven A.; Iannaccone, Susan T.; Bönnemann, Carsten G.

In: Neurology, Vol. 84, No. 14, 07.04.2015, p. 1495-1497.

Research output: Contribution to journalArticle

Bharucha-Goebel, DX, Neil, E, Donkervoort, S, Dastgir, J, Wiggs, E, Winder, TL, Moore, SA, Iannaccone, ST & Bönnemann, CG 2015, 'Intrafamilial variability in GMPPB -associated dystroglycanopathy: Broadening of the phenotype', Neurology, vol. 84, no. 14, pp. 1495-1497. https://doi.org/10.1212/WNL.0000000000001440
Bharucha-Goebel DX, Neil E, Donkervoort S, Dastgir J, Wiggs E, Winder TL et al. Intrafamilial variability in GMPPB -associated dystroglycanopathy: Broadening of the phenotype. Neurology. 2015 Apr 7;84(14):1495-1497. https://doi.org/10.1212/WNL.0000000000001440
Bharucha-Goebel, Diana X. ; Neil, Erin ; Donkervoort, Sandra ; Dastgir, Jahannaz ; Wiggs, Edythe ; Winder, Thomas L. ; Moore, Steven A. ; Iannaccone, Susan T. ; Bönnemann, Carsten G. / Intrafamilial variability in GMPPB -associated dystroglycanopathy : Broadening of the phenotype. In: Neurology. 2015 ; Vol. 84, No. 14. pp. 1495-1497.
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