Volume 10, issue 1, December 2015
163 articles in this issue
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Self-administered version of the Fabry-associated pain questionnaire for adult patients
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A conceptual disease model for adult Pompe disease
Authors (first, second and last of 7)
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Behavioral disturbance and treatment strategies in Smith-Magenis syndrome
Authors (first, second and last of 10)
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Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients
Authors (first, second and last of 11)
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Efficacy and safety of patisiran for familial amyloidotic polyneuropathy: a phase II multi-dose study
Authors (first, second and last of 13)
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Friedreich ataxia in Norway – an epidemiological, molecular and clinical study
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Large animal models of rare genetic disorders: sheep as phenotypically relevant models of human genetic disease
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Evaluation of the hypothalamic-pituitary-adrenal axis and its relationship with central respiratory dysfunction in children with Prader-Willi syndrome
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Autism spectrum disorder in Phelan-McDermid syndrome: initial characterization and genotype-phenotype correlations
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Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta
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Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours
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Naproxcinod shows significant advantages over naproxen in the mdx model of Duchenne Muscular Dystrophy
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Compassionate use of orphan drugs
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Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes
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A physician survey reveals differences in management of idiopathic pulmonary hemosiderosis
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Heterogeneity of primary outcome measures used in clinical trials of treatments for intermediate, posterior, and panuveitis
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EPS8L2 is a new causal gene for childhood onset autosomal recessive progressive hearing loss
Authors (first, second and last of 8)
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Rapamycin and its analogues (rapalogs) for Tuberous Sclerosis Complex-associated tumors: a systematic review on non-randomized studies using meta-analysis
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Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report
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The quality of economic evaluations of ultra-orphan drugs in Europe – a systematic review
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Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation
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Excellent long-term outcome of renal transplantation in cystinosis patients
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Idiopathic (primary) achalasia: a review
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Quality of life in patients with locked-in syndrome: Evolution over a 6-year period
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Safety and efficacy of exercise training in adults with Pompe disease: evalution of endurance, muscle strength and core stability before and after a 12 week training program
Authors (first, second and last of 9)
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Acquired familial Mediterranean fever associated with a somatic MEFV mutation in a patient with JAK2 associated post-polycythemia myelofibrosis
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Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
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A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia
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Diffuse left ventricular interstitial fibrosis is associated with sub-clinical myocardial dysfunction in Alström Syndrome: an observational study
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How a patient advocacy group developed the first proposed draft guidance document for industry for submission to the U.S. Food and Drug Administration
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A double-blind, randomized, placebo-controlled trial studying the effects of Saccharomyces boulardii on the gastrointestinal tolerability, safety, and pharmacokinetics of miglustat
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Assessment of the impact of phenylketonuria and its treatment on quality of life of patients and parents from seven European countries
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Clinical and biochemical characterization of four patients with mutations in ECHS1
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A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
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Chronic myelomonocytic leukemia as a cause of fatal uncontrolled inflammation in familial Mediterranean fever
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De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations
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A meta-analysis of randomized double-blind clinical trials in CMT1A to assess the change from baseline in CMTNS and ONLS scales after one year of treatment
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Expression profiling of white sponge nevus by RNA sequencing revealed pathological pathways
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Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life
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Alpha-mannosidosis: correlation between phenotype, genotype and mutant MAN2B1 subcellular localisation
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Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy
Authors (first, second and last of 10)
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Phenylketonuria screening and management in southeastern Europe – survey results from 11 countries
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Selective cognitive and psychiatric manifestations in Wolfram Syndrome
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Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study
Authors (first, second and last of 8)
