[HTML][HTML] Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
…, F Scaglia, GM Enns, R Saneto, I Anselm… - Genetics in …, 2015 - nature.com
Purpose: The purpose of this statement is to review the literature regarding mitochondrial
disease and to provide recommendations for optimal diagnosis and treatment. This …
disease and to provide recommendations for optimal diagnosis and treatment. This …
A modern approach to the treatment of mitochondrial disease
Opinion statement The treatment of mitochondrial disease varies considerably. Most experts
use a combination of vitamins, optimize patients' nutrition and general health, and prevent …
use a combination of vitamins, optimize patients' nutrition and general health, and prevent …
[HTML][HTML] Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
The purpose of this statement is to provide consensus-based recommendations for optimal
management and care for patients with primary mitochondrial disease. This statement is …
management and care for patients with primary mitochondrial disease. This statement is …
Microdeletion/duplication at 15q13. 2q13. 3 among individuals with features of autism and other neuropsychiatric disorders
Background: Segmental duplications at breakpoints (BP4–BP5) of chromosome 15q13.
2q13. 3 mediate a recurrent genomic imbalance syndrome associated with mental …
2q13. 3 mediate a recurrent genomic imbalance syndrome associated with mental …
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
…, L Abulhoul, S Grünewald, I Anselm… - Journal of medical …, 2013 - jmg.bmj.com
Background Creatine transporter deficiency is a monogenic cause of X-linked intellectual
disability. Since its first description in 2001 several case reports have been published but an …
disability. Since its first description in 2001 several case reports have been published but an …
[HTML][HTML] Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
…, M Pepper, H Panjwani, E Torti, F Abid, I Anselm… - Genome medicine, 2021 - Springer
Background With the increasing number of genomic sequencing studies, hundreds of genes
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …
have been implicated in neurodevelopmental disorders (NDDs). The rate of gene discovery …
Angelman syndrome: Mutations influence features in early childhood
…, CA Bacino, SA Skinner, I Anselm… - American journal of …, 2011 - Wiley Online Library
Angelman syndrome (AS) is a neurodevelopmental disorder caused by a lack of expression
of the maternal copy of UBE3A. Although the “classic” features of AS are well described, few …
of the maternal copy of UBE3A. Although the “classic” features of AS are well described, few …
[PDF][PDF] De novo variants in the ATPase module of MORC2 cause a neurodevelopmental disorder with growth retardation and variable craniofacial dysmorphism
…, E Torti, C Forster, EH Andrew, I Anselm… - The American Journal of …, 2020 - cell.com
MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and
transcriptional regulation. Heterozygous variants in MORC2 have been reported in …
transcriptional regulation. Heterozygous variants in MORC2 have been reported in …
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
…, CY Hung, H Olson, L Swanson, I Anselm… - …, 2019 - Wiley Online Library
Objective To characterize the phenotypic spectrum associated with GNAO 1 variants and
establish genotype‐protein structure‐phenotype relationships. Methods We evaluated the …
establish genotype‐protein structure‐phenotype relationships. Methods We evaluated the …
[HTML][HTML] Identification of novel deletions of 15q11q13 in Angelman syndrome by array-CGH: molecular characterization and genotype–phenotype correlations
Angelman syndrome (AS) is a neurodevelopmental disorder characterized by mental
retardation, absent speech, ataxia, and a happy disposition. Deletions of the 15q11q13 …
retardation, absent speech, ataxia, and a happy disposition. Deletions of the 15q11q13 …