HUMAN MOLECULAR GENETICS

A neurodevelopmental disorder caused by mutations in the VPS51 subunit of the GARP and EARP complexes

Ubiquitin specific protease-13 independently regulates parkin ubiquitination and alpha-synuclein clearance in alpha-synucleinopathies

Corrigendum: Persistent upregulation of the β-tubulin tubb6, linked to muscle regeneration, is a source of microtubule disorganization in dystrophic muscle.

The effect of mutant GBA1 on accumulation and aggregation of α-synuclein.

Loss of MeCP2 in immature neurons leads to impaired network integration

Validity of polygenic risk scores: are we measuring what we think we are?

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Autism-associated missense genetic variants impact locomotion and neurodevelopment in Caenorhabditis elegans.

Bi-allelic mutations of LONP1 encoding the mitochondrial LonP1 protease cause pyruvate dehydrogenase deficiency and profound neurodegeneration with progressive cerebellar atrophy

Tissue-specific sex-differences in human gene expression.

Genetic approaches to the treatment of inherited neuromuscular diseases.

Pharmacological modulation of the ER stress response ameliorates oculopharyngeal muscular dystrophy.

Hereditary spastic paraplegia: gain‐of‐function mechanisms revealed by new transgenic mouse

A longitudinal multimodal in vivo molecular imaging study of the 3xTg-AD mouse model shows progressive early hippocampal and taurine loss

Synapse diversity and synaptome architecture in human genetic disorders

Association of prolactin receptor (PRLR) variants with prolactinomas

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy.

Diverse and Dynamic DNA Modifications in Brain and Diseases.

Functional characterization of the ZEB2 regulatory landscape

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice

Loss of Cajal bodies in motor neurons from patients with novel mutations in VRK1.

Correction of half the cardiomyocytes fully rescue Friedreich ataxia mitochondrial cardiomyopathy through cell-autonomous mechanisms.

Functional muscle recovery following dystrophin and myostatin exon splice modulation in aged mdx mice.

Tbx1 regulates extracellular matrix-cell interactions in the second heart field.

Loss of zebrafish Ataxin-7, a SAGA subunit responsible for SCA7 retinopathy, causes ocular coloboma and malformation of photoreceptors

Rare and common variant discovery in complex disease: the IBD case study.

Structural basis for adPEO-causing mutations in the mitochondrial TWINKLE helicase

Nearly complete deletion of BubR1 causes microcephaly through shortened mitosis and massive cell death.

Hematopoietic and neural crest defects in zebrafish shoc2 mutants: a novel vertebrate model for Noonan‐like syndrome

Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin deficient muscles through matrix metalloproteinases.

Negative Regulator of Ubiquitin-Like Protein 1 modulates the autophagy-lysosomal pathway via p62 to facilitate the extracellular release of tau following proteasome impairment.

MYRF haploinsufficiency causes 46,XY and 46,XX disorders of sex development: bioinformatics consideration.

The variability of SMCHD1 gene in FSHD patients: evidence of new mutations

Mice lacking &agr;‐, &bgr;1‐ and &bgr;2‐syntrophins exhibit diminished function and reduced dystrophin expression in both cardiac and skeletal muscle

SNV identification from single-cell RNA sequencing data.

Gene replacement therapy after neuropathy onset provides therapeutic benefit in a model of CMT1X.

Progress and challenges in development of new therapies for urea cycle disorders.

Dynll1 is essential for development and promotes endochondral bone formation by regulating intraflagellar Dynein function in primary cilia.

Different in vivo impact of Dynamin 2 mutations implicated in Charcot-Marie-Tooth neuropathy or Centronuclear Myopathy.

Long-term environmental impact on object recognition, spatial memory, and reversal learning capabilities in Cacna1c haploinsufficient rats.

FUS-mediated dysregulation of Sema5a, an autism-related gene, in FUS mice with hippocampus-dependent cognitive deficits.

Recent advances in novel therapies for lipid disorders.

Refining genome-wide associated loci for serum uric acid in individuals with African ancestry.

Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.

Integrating Mendelian randomization and multiple-trait colocalization to uncover cell-specific inflammatory drivers of autoimmune and atopic disease

Molecular mechanism for the multiple sclerosis risk variant rs17594362

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth