Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function variants in TMEM141, DDHD2, and LHFPL5

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

(2022) Luis Carlos Tábara et al.   BRAIN

Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly

(2022) Quentin Thomas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De novo mutations in TOMM70, a receptor of the mitochondrial import translocase, cause neurological impairment

(2020) Debdeep Dutta et al.   HUMAN MOLECULAR GENETICS

Neurodevelopmental Disorders: From Genetics to Functional Pathways

(2020) Ilaria Parenti et al.   TRENDS IN NEUROSCIENCES

Mitochondrial dysfunction in neurological disorders: Exploring mitochondrial transplantation

(2020) Pedro Norat et al.   npj Regenerative Medicine

De Novo Variants in MAPK8IP3 Cause Intellectual Disability with Variable Brain Anomalies

(2019) Konrad Platzer et al.   AMERICAN JOURNAL OF HUMAN GENETICS

De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders

(2019) Marija Dulovic-Mahlow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Transmembrane (TMEM) protein family members: Poorly characterized even if essential for the metastatic process

(2019) Sébastien Marx et al.   SEMINARS IN CANCER BIOLOGY

Biallelic variants in the ciliary gene TMEM67 cause RHYNS syndrome

(2018) Francesco Brancati et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetics of intellectual disability in consanguineous families

(2018) Hao Hu et al.   MOLECULAR PSYCHIATRY

A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations

(2017) Aisha Nazli et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss

(2017) Rongrong Wang et al.   Genetic Testing and Molecular Biomarkers

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

(2017) Jennifer E. Posey et al.   NEW ENGLAND JOURNAL OF MEDICINE

GLP-1 analogue improves hepatic lipid accumulation by inducing autophagy via AMPK/mTOR pathway

(2016) Qin He et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Postpartum estrogen withdrawal impairs hippocampal neurogenesis and causes depression- and anxiety-like behaviors in mice

(2016) Zhuan Zhang et al.   PSYCHONEUROENDOCRINOLOGY

Oriental reed warbler ( Acrocephalus orientalis) nest defence behaviour towards brood parasites and nest predators

(2015) Donglai Li et al.   BEHAVIOUR

Genetic studies in intellectual disability and related disorders

(2015) Lisenka E. L. M. Vissers et al.   NATURE REVIEWS GENETICS

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

(2013) John K. Fink   ACTA NEUROPATHOLOGICA

Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)

(2013) Michael Gonzalez et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Genetic risk factors in two Utah pedigrees at high risk for suicide

(2013) H Coon et al.   Translational Psychiatry

Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia

(2012) Janneke H.M. Schuurs-Hoeijmakers et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Selective down-regulation of α4β2 neuronal nicotinic acetylcholine receptors in the brain of uremic rats with cognitive impairment

(2012) Juan J. Ballesta et al.   EXPERIMENTAL NEUROLOGY

Engineered ascorbate peroxidase as a genetically encoded reporter for electron microscopy

(2012) Jeffrey D Martell et al.   NATURE BIOTECHNOLOGY

Genomics, Intellectual Disability, and Autism

(2012) Heather C. Mefford et al.   NEW ENGLAND JOURNAL OF MEDICINE

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy

(2008) Alena Čížková et al.   NATURE GENETICS