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Rare Diseases, Volume 3, Issue 1 (2015)

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Rare Diseases, Volume 3, Issue 1 (2015)

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Vol 4, 2016 Volume 3, 2015 Vol 2, 2014 Vol 1, 2013

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Review

Review Article

Ribosomopathies: Global process, tissue specific defects

Pamela C Yelick & Paul A Trainor

Article: e1025185

Published online: 27 Apr 2015

AbstractforRibosomopathies: Global process, tissue specific defects | Full Text | References | PDF (152.2 KB)

4831 Views
69 CrossRef citations
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Open Access

Review

Rare disease diagnosis: A review of web search, social media and large-scale data-mining approaches

Dan Svenstrup, Henrik L Jørgensen & Ole Winther

Article: e1083145

Published online: 18 Sep 2015

AbstractforRare disease diagnosis: A review of web search, social media and large-scale data-mining approaches | Full Text | References | PDF (232.4 KB)

6181 Views
47 CrossRef citations
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Addendum

Human iPS cell models of Jervell and Lange-Nielsen syndrome

Milena Bellin & Boris Greber

Article: e1012978

Published online: 17 Mar 2015

AbstractforHuman iPS cell models of Jervell and Lange-Nielsen syndrome | Full Text | References | PDF (207.8 KB)

1111 Views
3 CrossRef citations
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Addendum

The immune system in Duchenne muscular dystrophy: Friend or foe

S Armando Villalta, Amy S Rosenberg & Jeffrey A Bluestone

Article: e1010966

Published online: 17 Mar 2015

AbstractforThe immune system in Duchenne muscular dystrophy: Friend or foe | Full Text | References | PDF (104.3 KB)

4685 Views
49 CrossRef citations
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Open Access

Addendum

New insights into the pathophysiology of the tuberous sclerosis complex: Crosstalk of mTOR- and hippo-YAP pathways in cell growth

Patricia E Dill, Ning Liang & Mario Pende

Article: e1016701

Published online: 01 Apr 2015

AbstractforNew insights into the pathophysiology of the tuberous sclerosis complex: Crosstalk of mTOR- and hippo-YAP pathways in cell growth | Full Text | References | PDF (663.8 KB)

2065 Views
3 CrossRef citations
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Addendum

The impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras^V14I

Isabel Hernández-Porras, Beatriz Jiménez-Catalán, Alberto J Schuhmacher & Carmen Guerra

Article: e1045169

Published online: 22 May 2015

AbstractforThe impact of the genetic background in the Noonan syndrome phenotype induced by K-Ras^V14I | Full Text | References | PDF (339.4 KB)

1319 Views
11 CrossRef citations
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Addendum

Crosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C

Alexey V Pshezhetsky

Article: e1049793

Published online: 11 Jun 2015

AbstractforCrosstalk between 2 organelles: Lysosomal storage of heparan sulfate causes mitochondrial defects and neuronal death in mucopolysaccharidosis III type C | Full Text | References | PDF (487.2 KB)

1587 Views
20 CrossRef citations
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Addendum

Huntington's disease is a multi-system disorder

Michal Mielcarek

Article: e1058464

Published online: 24 Jul 2015

AbstractforHuntington's disease is a multi-system disorder | Full Text | References | PDF (116 KB)

2715 Views
32 CrossRef citations
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Addendum

Macrophage migration inhibitory factor as a component of selective vulnerability of motor neurons in ALS

Salah Abu-Hamad & Adrian Israelson

Article: e1061164

Published online: 24 Jul 2015

AbstractforMacrophage migration inhibitory factor as a component of selective vulnerability of motor neurons in ALS | Full Text | References | PDF (88.4 KB)

1226 Views
2 CrossRef citations
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Addendum

Pompe disease: Shared and unshared features of lysosomal storage disorders

Jeong-A Lim, Or Kakhlon, Lishu Li, Rachel Myerowitz & Nina Raben

Article: e1068978

Published online: 31 Jul 2015

AbstractforPompe disease: Shared and unshared features of lysosomal storage disorders | Full Text | References | PDF (101.7 KB)

3574 Views
24 CrossRef citations
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Addendum

Chromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation

David H McDermott, Ji-Liang Gao & Philip M Murphy

Article: e1073430

Published online: 24 Aug 2015

AbstractforChromothriptic cure of WHIM syndrome: Implications for bone marrow transplantation | Full Text | References | PDF (309.6 KB)

1322 Views
11 CrossRef citations
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Addendum

A unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome

María Moriel-Carretero, Emilia Herrera-Moyano & Andrés Aguilera

Article: e1079362

Published online: 18 Sep 2015

AbstractforA unified model for the molecular basis of Xeroderma pigmentosum-Cockayne Syndrome | Full Text | References | PDF (437.4 KB)

2020 Views
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Addendum

New insights into the metabolic and nutritional determinants of severe combined immunodeficiency

Martha S Field, Elena Kamynina, David Watkins, David S Rosenblatt & Patrick J Stover

Article: e1112479

Published online: 31 Dec 2015

AbstractforNew insights into the metabolic and nutritional determinants of severe combined immunodeficiency | Full Text | References | PDF (182.9 KB)

1560 Views
7 CrossRef citations
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Meeting Report

Report

Developing methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices

Menaka Pai, Alfonso Iorio, Joerg Meerpohl, Domenica Taruscio, Paola Laricchiuta, Pierpaolo Mincarone, Cristina Morciano, Carlo Giacomo Leo, Saverio Sabina, Elie Akl, Shaun Treweek, Benjamin Djulbegovic, Holger Schunemann & Consortium for the RARE-Bestpractices

Article: e1058463

Published online: 29 Sep 2015

AbstractforDeveloping methodology for the creation of clinical practice guidelines for rare diseases: A report from RARE-Bestpractices | Full Text | References | PDF (173.7 KB)

2307 Views
18 CrossRef citations
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Corrigendum

Correction

Corrigendum

Article: e1037119

Published online: 11 May 2015

CitationforCorrigendum | Full Text | PDF (28.5 KB)

407 Views
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Mitochondrial dysfunction and defects in lipid homeostasis as therapeutic targets in neurodegeneration with brain iron accumulation

Kerri J. Kinghorn et al.

Addendum | Published online: 18 Feb 2016

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A commentary on the utility of a new L-DOPA-responsive dystonia mouse model

Samuel J. Rose et al.

Addendum | Published online: 11 Feb 2016

Open Access

The conditional KO approach: Cre/Lox technology in human neurons

Christopher Patzke et al.

Addendum | Published online: 18 Feb 2016

Open Access

Problems and solutions for the analysis of somatic CAG repeat expansion and their relationship to Huntington's disease toxicity

Helen Budworth et al.

Addendum | Published online: 18 Feb 2016

Open Access

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Rare Diseases (Vol.3, Iss.1, 2015)

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