Rare Diseases, Volume 2, Issue 1 (2014)

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Rare Diseases, Volume 2, Issue 1 (2014)

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Addendum

Addendum
TDP-43—The key to understanding amyotrophic lateral sclerosis
Zuoshang Xu & Chunxing Yang
Article: e944443
Published online: 30 Oct 2014
AbstractforTDP-43—The key to understanding amyotrophic lateral sclerosis | Full Text | References | PDF (97.8 KB)
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Addendum
Gene therapy for Wiskott-Aldrich Syndrome—Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis
Christian Joerg Braun, Maximilian Witzel, Anna Paruzynski, Kaan Boztug, Christof von Kalle, Manfred Schmidt & Christoph Klein
Article: e947749
Published online: 30 Oct 2014
AbstractforGene therapy for Wiskott-Aldrich Syndrome—Long-term reconstitution and clinical benefits, but increased risk for leukemogenesis | Full Text | References | PDF (88.3 KB)
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Addendum
Unraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias
Holly A Leddy, Amy L McNulty, Farshid Guilak & Wolfgang Liedtke
Article: e962971
Published online: 30 Oct 2014
AbstractforUnraveling the mechanism by which TRPV4 mutations cause skeletal dysplasias | Full Text | References | PDF (202.3 KB)
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Addendum
Motor neuron degeneration in spinal and Bulbar Muscular Atrophy is a skeletal muscle-driven process: Relevance to therapy development and implications for related motor neuron diseases
Constanza J Cortes & Albert R La Spada
Article: e962402
Published online: 30 Oct 2014
AbstractforMotor neuron degeneration in spinal and Bulbar Muscular Atrophy is a skeletal muscle-driven process: Relevance to therapy development and implications for related motor neuron diseases | Full Text | References | PDF (82.4 KB)
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Addendum
The methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome
Katherina Walz & Juan I Young
Article: e967151
Published online: 03 Nov 2014
AbstractforThe methyl binding domain containing protein MBD5 is a transcriptional regulator responsible for 2q23.1 deletion syndrome | Full Text | References | PDF (184.9 KB)
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Addendum
Drosophila as a potential model to ameliorate mutant Huntington-mediated cardiac amyloidosis
Adriana S Trujillo, Raul Ramos, Rolf Bodmer, Sanford I Bernstein, Karen Ocorr & Girish C Melkani
Article: e968003
Published online: 03 Nov 2014
AbstractforDrosophila as a potential model to ameliorate mutant Huntington-mediated cardiac amyloidosis | Full Text | References | PDF (334.8 KB)
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Addendum
Impaired striatal function in Huntington's disease is due to aberrant p75NTR signaling
Joshua L Plotkin & D James Surmeier
Article: e968482
Published online: 03 Nov 2014
AbstractforImpaired striatal function in Huntington's disease is due to aberrant p75NTR signaling | Full Text | References | PDF (100.2 KB)
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Addendum
Loss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT)
Pilar Ramos, Anthony N Karnezis, William P D Hendricks, Yemin Wang, Waibhav Tembe, Victoria L Zismann, Christophe Legendre, Winnie S Liang, Megan L Russell, David W Craig, John H Farley, Bradley J Monk, Stephen P Anthony, Aleksandar Sekulic, Heather E Cunliffe, David G Huntsman & Jeffrey M Trent
Article: e967148
Published online: 03 Nov 2014
AbstractforLoss of the tumor suppressor SMARCA4 in small cell carcinoma of the ovary, hypercalcemic type (SCCOHT) | Full Text | References | PDF (184.6 KB) | Supplemental
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Muscle-specific microRNAs as biomarkers of Duchenne Muscular Dystrophy progression and response to therapies
L Giordani, M Sandoná, A Rotini, PL Puri, S Consalvi & V Saccone
Article: e974969
Published online: 01 Dec 2014
AbstractforMuscle-specific microRNAs as biomarkers of Duchenne Muscular Dystrophy progression and response to therapies | Full Text | References | PDF (359.9 KB)
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Addendum
Spondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13
Bum-Ho Bin, Shintaro Hojyo, Tae Ryong Lee & Toshiyuki Fukada
Article: e974982
Published online: 01 Dec 2014
AbstractforSpondylocheirodysplastic Ehlers-Danlos syndrome (SCD-EDS) and the mutant zinc transporter ZIP13 | Full Text | References | PDF (194 KB)
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