Bharti Morar

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant

Nicole J. Lake, Luke E. Formosa, David A. Stroud, Michael T. Ryan et autres

Leigh syndrome is a mitochondrial disease caused by pathogenic variants in over 85 genes. Whole exome sequencing of a patient with Leigh-like syndrome identified homozygous protein-truncating variants in two genes associated with Leigh syndrome; a reported pathogenic variant in PDHX (NP_003468.2:p.(Arg446*)), and …

au, us (code pays fourni par la source)

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine

Macarena Cabrera‐Serrano, Fabiola Mavillard, Valérie Biancalana, Eloy Rivas et autres

Objective To describe a large series of BIN1 patients, in which a novel founder mutation in the Roma population of southern Spain has been identified. Methods Patients diagnosed with centronuclear myopathy (CNM) at 5 major reference centers for neuromuscular disease in Spain …

fr, es, au (code pays fourni par la source)

UFM1 founder mutation in the Roma population causes severe variant of Hypomyelination with Atrophy of the Basal ganglia and Cerebellum (H-ABC)

Eline M. Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar et autres

nl (code pays fourni par la source)

Whole genome sequencing of 91 multiplex schizophrenia families reveals increased burden of rare, exonic copy number variation in schizophrenia probands and genetic heterogeneity

Fayeza F Khan, Phillip E. Melton, Nina S. McCarthy, Bharti Morar et autres

au, us (code pays fourni par la source)

HIGH RESOLUTION LINKAGE AND ASSOCIATION ANALYSES OF COGNITIVE DEFICIT AND SCHIZOPHRENIA IN THE WESTERN AUSTRALIAN FAMILY STUDY OF SCHIZOPHRENIA

Nina S. McCarthy, Phillip E. Melton, Johanna C. Badcock, Vera A. Morgan et autres

UFM1 founder mutation in the Roma population causes recessive variant of H-ABC

Eline M. Hamilton, Enrico Bertini, Luba Kalaydjieva, Bharti Morar et autres

Objective: To identify the gene defect in patients with hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) who are negative for TUBB4A mutations. Methods: We performed homozygosity mapping and whole exome sequencing (WES) to detect the disease-causing variant. We used …

us, au, ch, ca, it, nl (code pays fourni par la source)

BIN1 founder mutation in the Spanish gypsy population is the most frequent cause of adult onset centronuclear myopathies in the south of Spain

Macarena Cabrera‐Serrano, Eloy Rivas, Fabiola Mavillard, Bharti Morar et autres

es, au, fr (code pays fourni par la source)

The longevity gene Klotho is differentially associated with cognition in subtypes of schizophrenia

Bharti Morar, Johanna C. Badcock, Michael Phillips, Osvaldo P. Almeida et autres

au (code pays fourni par la source)

LONGEVITY KLOTHO GENE POLYMORPHISM AND THE RISK OF DEMENTIA IN OLDER MEN

Leon Flicker, Bharti Morar, Graeme J. Hankey, Bu B. Yeap et autres

In mice the Klotho gene encodes a membrane protein that seems to suppress certain physiological aspects associated with the ageing phenotype including reduced lifespan and atherosclerosis. In humans Klotho variants (KL-VS) have been associated with increased longevity and better cognitive function. It …

au (code pays fourni par la source)

Longevity Klotho gene polymorphism and the risk of dementia in older men

Osvaldo P. Almeida, Bharti Morar, Graeme J. Hankey, Bu B. Yeap et autres

au (code pays fourni par la source)

Exome array analysis suggests an increased variant burden in families with schizophrenia

Nina S. McCarthy, Phillip E. Melton, Sarah V. Ward, Spencer M. Allan et autres

au, us (code pays fourni par la source)

The AQP1 del601G mutation in different European Romani (Gypsy) populations.

Brigitte K. Flesch, Bharti Morar, David Comas, Eduardo Muñiz‐Díaz et autres

TEST 02 - Elsevier's Scopus, the largest abstract and citation database of peer-reviewed literature. Search and access research from the science, technology, medicine, social sciences and arts and humanities fields.

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