New Genes
Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans
Hum Mol Genet . 2022 Feb 3;31(3):362-375
Mutations in phospholipase C eta-1 (PLCH1) are associated with holoprosencephaly
Hum Mol Genet . 2022 Feb 3;31(3):362-375
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy
J Med Genet . 2022 Apr;59(4):351-357
Clinical Research
Clinical characteristics of multicentric reticulohistiocytosis and distinguished features from rheumatoid arthritis: a single-center experience in China
Orphanet J Rare Dis . 2022 Apr 12;17(1):164
Eight months follow-up of corneal nerves and sensitivity after treatment with cenegermin for neurotrophic keratopathy
Orphanet J Rare Dis . 2022 Feb 21;17(1):63
Epidermolysis Bullosa in children: the central role of the pediatrician
Orphanet J Rare Dis . 2022 Apr 4;17(1):147
Antibodies against recombinant human alpha-glucosidase do not seem to affect clinical outcome in childhood onset Pompe disease
Orphanet J Rare Dis . 2022 Feb 2;17(1):31
Therapeutic potential of living donor liver transplantation from heterozygous carrier donors in children with propionic acidemia
Orphanet J Rare Dis . 2022 Feb 21;17(1):62
Analysis of cognitive ability and adaptive behavior assessment tools used in an observational study of patients with mucopolysaccharidosis II
Orphanet J Rare Dis . 2021 Dec 4;16(1):501
Repeated intravenous cardiosphere-derived cell therapy in late-stage Duchenne muscular dystrophy (HOPE-2): a multicentre, randomised, double-blind, placebo-controlled, phase 2 trial
Lancet . 2022 Mar 12;399(10329):1049-1058
Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre
Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study
Orphanet J Rare Dis . 2022 Jan 4;17(1):2
Improving survival in patients with trisomy 18
Am J Med Genet A . 2022 Apr;188(4):1048-1055
Natural history of respiratory muscle strength in spinal muscular atrophy: a prospective national cohort study
Orphanet J Rare Dis . 2022 Feb 21;17(1):70
Therapeutic Approaches
Ndufs4 knockout mouse models of Leigh syndrome: pathophysiology and intervention
Brain . 2022 Mar 29;145(1):45-63
Of men and mice: Human X-linked retinoschisis and fidelity in mouse modeling
Prog Retin Eye Res . 2022 Mar;87:100999
Passive immunization against phosphorylated tau improves features of Huntington's disease pathology
Mol Ther . 2022 Apr 6;30(4):1500-1522
Intrahepatic cholangiocyte regeneration from an Fgf-dependent extrahepatic progenitor niche in a zebrafish model of Alagille Syndrome
Hepatology . 2022 Mar;75(3):567-583
Reversal of behavioural phenotype by the cannabinoid-like compound VSN16R in fragile X syndrome mice
Brain . 2022 Mar 29;145(1):76-82.
Sarcospan increases laminin-binding capacity of α-dystroglycan to ameliorate DMD independent of Galgt2
Hum Mol Genet . 2022 Mar 3;31(5):718-732
Biomarkers
Circular RNA-based biomarkers in blood of patients with Fabry disease and related phenotypes
J Med Genet . 2022 Mar;59(3):279-286
Diagnostic Approaches
Magnetic resonance findings may aid in diagnosis of protracted febrile myalgia syndrome: a retrospective, multicenter study
Orphanet J Rare Dis . 2022 Jan 10;17(1):15
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates
Orphanet J Rare Dis . 2022 Feb 21;17(1):66
Patient Management and Therapy
How I treat neurologic complications in patients with lymphoid cancer
Blood . 2022 Mar 10;139(10):1469-1478
Congenital hyperinsulinism in infancy and childhood: challenges, unmet needs and the perspective of patients and families
Orphanet J Rare Dis . 2022 Feb 19;17(1):61
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans
Orphanet J Rare Dis . 2022 Mar 24;17(1):133
Challenges and improvement needs in the care of patients with central diabetes insipidus
Orphanet J Rare Dis . 2022 Feb 16;17(1):58
Epidemiology
Nationwide comprehensive epidemiological study of rare diseases in Japan using a health insurance claims database
Orphanet J Rare Dis . 2022 Mar 28;17(1):140
Quality of life
A cross-sectional study of gender differences in quality of life domains in patients with neurofibromatosis type 1
Orphanet J Rare Dis . 2022 Feb 8;17(1):40
Caregivers’ experience of sleep management in Smith–Magenis syndrome: a mixed-methods study
Orphanet J Rare Dis . 2022 Feb 4;17(1):35
Concordance between the schedule for the evaluation of individual quality of life-direct weighting (SEIQoL-DW) and the EuroQoL-5D (EQ-5D) measures of quality of life outcomes in adults with X-linked hypophosphatemia
Orphanet J Rare Dis . 2022 Feb 23;17(1):81
Summary of the edition of 13 May 2022
