Rare Diseases, Volume 1, Issue 1 (2013)

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Rare Diseases, Volume 1, Issue 1 (2013)

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Editorial

Editorial
Introducing Rare Diseases
Patricia Szajner & Timur Yusufzai
Article: e24735
Published online: 18 Apr 2013
CitationforIntroducing Rare Diseases | Full Text | References | PDF (67.1 KB)
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Rare Disease Foundation Spotlight

Editorial
The ALS Association
Fighting Lou Gehrig disease on multiple fronts
The ALS Association Media Relations
Article: e24910
Published online: 10 May 2013
CitationforThe ALS Association | Full Text | References | PDF (182.7 KB)
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Research Paper

Article
A human de novo mutation in MYH10 phenocopies the loss of function mutation in mice
Lea Tuzovic, Lan Yu, Wenqi Zeng, Xiang Li, Hong Lu, Hsiao-Mei Lu, Kelly DF Gonzalez & Wendy K Chung
Article: e26144
Published online: 14 Aug 2013
AbstractforA human de novo mutation in MYH10 phenocopies the loss of function mutation in mice | Full Text | References | PDF (339.2 KB) | Supplemental
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Article
Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability
Luis Rohena, Julie Neidich, Megan Truitt Cho, Kelly DF Gonzalez, Sha Tang, Orrin Devinsky & Wendy K Chung
Article: e26314
Published online: 05 Sep 2013
AbstractforMutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability | Full Text | References | PDF (812.6 KB)
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Article
Genome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease)
Zhihui Xie, Vijayaraj Nagarajan, Daniel E Sturdevant, Shoko Iwaki, Eunice Chan, Laura Wisch, Michael Young, Celeste M Nelson, Stephen F Porcella & Kirk M Druey
Article: e27445
Published online: 12 Dec 2013
AbstractforGenome-wide SNP analysis of the Systemic Capillary Leak Syndrome (Clarkson disease) | Full Text | References | PDF (1.3 MB)
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Addendum

Article Commentary
Facioscapulohumeral muscular dystrophy
Are telomeres the end of the story?
Guido Stadler, Oliver D King, Jerome D Robin, Jerry W Shay & Woodring E Wright
Article: e26142
Published online: 14 Aug 2013
AbstractforFacioscapulohumeral muscular dystrophy | Full Text | References | PDF (298.3 KB)
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Article Commentary
Damaged mitochondria and overproduction of ROS in Fanconi anemia cells
Alex Lyakhovich
Article: e24048
Published online: 20 Feb 2013
AbstractforDamaged mitochondria and overproduction of ROS in Fanconi anemia cells | Full Text | References | PDF (137.7 KB)
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Article Commentary
Synaptic protein dysregulation in myotonic dystrophy type 1
Disease neuropathogenesis beyond missplicing
Oscar Hernández-Hernández, Géraldine Sicot, Diana M. Dinca, Aline Huguet, Annie Nicole, Luc Buée, Arnold Munnich, Nicolas Sergeant, Geneviève Gourdon & Mário Gomes-Pereira
Article: e25553
Published online: 26 Jun 2013
AbstractforSynaptic protein dysregulation in myotonic dystrophy type 1 | Full Text | References | PDF (2.3 MB) | Supplemental
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Article Commentary
IGSF1 deficiency syndrome
A newly uncovered endocrinopathy
Sjoerd D. Joustra, A. S. Paul van Trotsenburg, Yu Sun, Monique Losekoot, Daniel J. Bernard, Nienke R. Biermasz, Wilma Oostdijk & Jan M. Wit
Article: e24883
Published online: 02 May 2013
AbstractforIGSF1 deficiency syndrome | Full Text | References | PDF (181.1 KB)
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Article Commentary
Drosophila as a starting point for developing therapeutics for the rare disease Duchenne Muscular Dystrophy
Mario Pantoja & Hannele Ruohola-Baker
Article: e24995
Published online: 10 May 2013
AbstractforDrosophila as a starting point for developing therapeutics for the rare disease Duchenne Muscular Dystrophy | Full Text | References | PDF (337.5 KB)
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Article Commentary
WNK1/HSN2 isoform and the regulation of KCC2 activity
Valérie Bercier
Article: e26537
Published online: 19 Sep 2013
AbstractforWNK1/HSN2 isoform and the regulation of KCC2 activity | Full Text | References | PDF (334 KB)
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Article Commentary
GSK3β is a new therapeutic target for myotonic dystrophy type 1
Christina Wei, Karlie Jones, Nikolai A Timchenko & Lubov Timchenko
Article: e26555
Published online: 26 Sep 2013
AbstractforGSK3β is a new therapeutic target for myotonic dystrophy type 1 | Full Text | References | PDF (509.8 KB)
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Article Commentary
Unfolded protein response, treatment and CMT1B
Yunhong Bai, Agnes Patzko & Michael E. Shy
Article: e24049
Published online: 20 Feb 2013
AbstractforUnfolded protein response, treatment and CMT1B | Full Text | References | PDF (376.2 KB)
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Article Commentary
The Nbeal2−/− mouse as a model for the gray platelet syndrome
Carsten Deppermann, Paquita Nurden, Alan T Nurden, Bernhard Nieswandt & David Stegner
Article: e26561
Published online: 26 Sep 2013
AbstractforThe Nbeal2−/− mouse as a model for the gray platelet syndrome | Full Text | References | PDF (457.6 KB)
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Article Commentary
Specialized tools are needed when searching the web for rare disease diagnoses
Radu Dragusin, Paula Petcu, Christina Lioma, Birger Larsen, Henrik L. Jørgensen, Ingemar J. Cox, Lars Kai Hansen, Peter Ingwersen & Ole Winther
Article: e25001
Published online: 16 May 2013
AbstractforSpecialized tools are needed when searching the web for rare disease diagnoses | Full Text | References | PDF (157.4 KB)
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Article Commentary
From an orphan disease to a generalized molecular mechanism
PTPN11 loss-of-function mutations in the pathogenesis of metachondromatosis
Wentian Yang & Benjamin G Neel
Article: e26657
Published online: 02 Oct 2013
AbstractforFrom an orphan disease to a generalized molecular mechanism | Full Text | References | PDF (523 KB)
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Article Commentary
A step closer toward therapies for p63-related disorders
Huiqing Zhou & Daniel Aberdam
Article: e24247
Published online: 12 Mar 2013
AbstractforA step closer toward therapies for p63-related disorders | Full Text | References | PDF (407.9 KB)
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Article Commentary
NOTCH signaling in immune-mediated bone marrow failure of aplastic anemia
Lisa M Minter
Article: e26764
Published online: 06 Nov 2013
AbstractforNOTCH signaling in immune-mediated bone marrow failure of aplastic anemia | Full Text | References | PDF (510 KB)
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Article Commentary
Disease mutations in the prion-like domains of hnRNPA1 and hnRNPA2/B1 introduce potent steric zippers that drive excess RNP granule assembly
James Shorter & J. Paul Taylor
Article: e25200
Published online: 29 May 2013
AbstractforDisease mutations in the prion-like domains of hnRNPA1 and hnRNPA2/B1 introduce potent steric zippers that drive excess RNP granule assembly | Full Text | References | PDF (168.7 KB)
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Article Commentary
Leptin signaling defects in a mouse model of Prader-Willi syndrome
An orphan genetic obesity syndrome no more?
William F. Colmers & Rachel Wevrick
Article: e24421
Published online: 27 Mar 2013
AbstractforLeptin signaling defects in a mouse model of Prader-Willi syndrome | Full Text | References | PDF (317 KB)
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Article Commentary
Senataxin protects the genome
Implications for neurodegeneration and other abnormalities
Martin F. Lavin, Abrey J. Yeo & Olivier J. Becherel
Article: e25230
Published online: 06 Jun 2013
AbstractforSenataxin protects the genome | Full Text | References | PDF (475.7 KB)
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Article Commentary
Yeast genetic screen reveals novel therapeutic strategy for ALS
Matthew D. Figley & Aaron D. Gitler
Article: e24420
Published online: 27 Mar 2013
AbstractforYeast genetic screen reveals novel therapeutic strategy for ALS | Full Text | References | PDF (511.3 KB)
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Article Commentary
Explaining intermediate filament accumulation in giant axonal neuropathy
Puneet Opal & Robert D. Goldman
Article: e25378
Published online: 17 Jun 2013
AbstractforExplaining intermediate filament accumulation in giant axonal neuropathy | Full Text | References | PDF (328.3 KB)
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Article Commentary
Novel insights into the disease etiology of laminopathies
Chin Yee Ho, Diana E Jaalouk & Jan Lammerding
Article: e27002
Published online: 06 Nov 2013
AbstractforNovel insights into the disease etiology of laminopathies | Full Text | References | PDF (923.2 KB)
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Article Commentary
Common skeletal features in rare diseases
New links between ciliopathies and FGF-related syndromes
Basil Z Yannakoudakis & Karen J Liu
Article: e27109
Published online: 11 Nov 2013
AbstractforCommon skeletal features in rare diseases | Full Text | References | PDF (660.9 KB)
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Article Commentary
Novel opportunities for CFTR-targeting drug development using organoids
Johanna F Dekkers, Cornelis K van der Ent & Jeffrey M Beekman
Article: e27112
Published online: 11 Nov 2013
AbstractforNovel opportunities for CFTR-targeting drug development using organoids | Full Text | References | PDF (697.1 KB)
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Article Commentary
Toward a gene therapy for neurological and somatic MPSIIIA
Virginia Haurigot & Fatima Bosch
Article: e27209
Published online: 12 Dec 2013
AbstractforToward a gene therapy for neurological and somatic MPSIIIA | Full Text | References | PDF (410.3 KB)
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Article Commentary
Natural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus
A whisper with functional consequences
Valery Matarazzo & Françoise Muscatelli
Article: e27228
Published online: 12 Dec 2013
AbstractforNatural breaking of the maternal silence at the mouse and human imprinted Prader-Willi locus | Full Text | References | PDF (1.3 MB)
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Article Commentary
A role for metabolism in Rett syndrome pathogenesis
New clinical findings and potential treatment targets
Monica J Justice, Christie M Buchovecky, Stephanie M Kyle & Aleksandra Djukic
Article: e27265
Published online: 18 Dec 2013
AbstractforA role for metabolism in Rett syndrome pathogenesis | Full Text | References | PDF (373.9 KB)
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Review

Review Article
Clinical studies in lysosomal storage diseases
Past, present, and future
Pol F Boudes
Article: e26690
Published online: 07 Oct 2013
AbstractforClinical studies in lysosomal storage diseases | Full Text | References | PDF (269.3 KB)
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Review Article
Emergence of pediatric rare diseases
Review of present policies and opportunities for improvement
Supriya Bavisetty, Wayne W. Grody & Shahram Yazdani
Article: e23579
Published online: 28 Jan 2013
AbstractforEmergence of pediatric rare diseases | Full Text | References | PDF (155.1 KB)
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Review Article
Lifetime risk estimators in epidemiological studies of Krabbe Disease
Review and Monte Carlo comparison
Alexander H. Foss, Patricia K. Duffner & Randy L. Carter
Article: e25212
Published online: 30 May 2013
AbstractforLifetime risk estimators in epidemiological studies of Krabbe Disease | Full Text | References | PDF (199.1 KB) | Supplemental
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Review Article
Alkaptonuria
Jemma B Mistry, Marwan Bukhari & Adam M Taylor
Article: e27475
Published online: 18 Dec 2013
AbstractforAlkaptonuria | Full Text | References | PDF (303.1 KB)
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Short Communication

Brief Report
Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation
Henrik H. Kralund, Lilian Ousager, Nicolaas G. Jaspers, Anja Raams, Erling B. Pedersen, Else Gade & Anette Bygum
Article: e24932
Published online: 06 May 2013
AbstractforXeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutation | Full Text | References | PDF (1.6 MB)
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