Rare diseases
Rare diseases
Case Report
metrics
Revised
Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa
[version 2; peer review: 3 approved]
Peer Reviewers
Robert Sidbury;
Regina Fölster-Holst;
Mohamed Badawy Hassan Tawfik Abdel-Naser
Case Report
metrics
Case Report: Kikuchi-Fujimoto disease: a diagnostic and therapeutic dilemma following pretransplant nephrectomy for a 2.35 Kg kidney
[version 1; peer review: 2 approved]
Peer Reviewers
Noor Buchholz;
Sanjay B. Kulkarni
Research Article
metrics
Revised
The unfolded protein response and its potential role in Huntington's disease elucidated by a systems biology approach
[version 2; peer review: 2 approved]
Peer Reviewers
Scott Zeitlin;
Stefan Taubert
Case Report
metrics
Case Report: Compound heterozygous nonsense mutations in TRMT10A are associated with microcephaly, delayed development, and periventricular white matter hyperintensities
[version 1; peer review: 2 approved]
Peer Reviewers
Gihan Tennekoon;
Ganeshwaran H. Mochida
Review
metrics
Revised
Resources, challenges and way forward in rare mitochondrial diseases research
[version 2; peer review: 2 approved]
Peer Reviewers
Xin Qi;
Vanniarajan Ayyasamy
Opinion Article
metrics
A(a)LS: Ammonia-induced amyotrophic lateral sclerosis
[version 1; peer review: 2 approved, 1 not approved]
Peer Reviewers
Viswanathan Krishnan and Joy Goto;
Smita Saxena;
Scott T Brady
Review
metrics
Revised
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis
[version 2; peer review: 2 approved]
Peer Reviewers
Matthias Titeux;
Klaas Wierenga
Opinion Article
metrics
The role of globalization in drug development and access to orphan drugs: orphan drug legislation in the US/EU and in Latin America
[version 1; peer review: 3 approved]
Peer Reviewers
John Forman;
Wendy Lipworth;
Durhane Wong-Rieger
Review
metrics
A brief review of recent Charcot-Marie-Tooth research and priorities
[version 1; peer review: 2 approved]
Peer Reviewers
Rhona Mirsky;
Gerard Said
Case Report
metrics
Revised
Case Report: Gollop-Wolfgang Complex in a 5 month old baby
[version 3; peer review: 2 approved, 1 approved with reservations]
Peer Reviewers
Stephen Robertson;
Nicole Philip;
Murat Bastepe and Qing He
Case Report
metrics
Case Report: A case report of Moyamoya disease in a 36 year old African American woman
[version 1; peer review: 2 approved]
Peer Reviewers
Bruce Campbell;
Johannes Boltze
Opinion Article
metrics
Collaboration for rare disease drug discovery research
[version 1; peer review: 2 approved]
Peer Reviewers
Nicholas Meanwell;
Stephen Groft
Editorial
metrics
NOT PEER REVIEWED
Collecting rare diseases
[version 1; peer review: not peer reviewed]
Opinion Article
metrics
Revised
Recommendations to enable drug development for inherited neuropathies: Charcot-Marie-Tooth and Giant Axonal Neuropathy
[version 2; peer review: 2 approved]
Peer Reviewers
Flávia L. Osório;
Jean-Michel Vallat
Research Article
metrics
A pilot study of basal ganglia and thalamus structure by high dimensional mapping in children with Tourette syndrome
[version 1; peer review: 2 approved]
Peer Reviewers
Jeremy S. Stern;
Kirsten R Müller-Vahl
Research Article
metrics
The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D
[version 1; peer review: 3 approved]
Peer Reviewers
Rhona Mirsky;
Fransesc Palau;
Angelo Schenone