5,713 results match your criteria Autistic Spectrum Disorders


Autism Spectrum Disorder (ASD) with and without Mental Regression is Associated with Changes in the Fecal Microbiota.

Nutrients 2019 Feb 5;11(2). Epub 2019 Feb 5.

Pediatric Research and Metabolism Unit, Reina Sofia University Hospital, Maimónides Institute forBiomedical Research of Córdoba (IMIBIC), University of Córdoba, 14010 Córdoba, Spain.

New microbiome sequencing technologies provide novel information about the potential interactions among intestinal microorganisms and the host in some neuropathologies as autism spectrum disorders (ASD). The microbiota⁻gut⁻brain axis is an emerging aspect in the generation of autistic behaviors; evidence from animal models suggests that intestinal microbial shifts may produce changes fitting the clinical picture of autism. The aim of the present study was to evaluate the fecal metagenomic profiles in children with ASD and compare them with healthy participants. Read More

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http://dx.doi.org/10.3390/nu11020337DOI Listing
February 2019

HLA-G allelic distribution in Sardinian children with Autism spectrum disorders: A replication study.

Brain Behav Immun 2019 Feb 11. Epub 2019 Feb 11.

IRCCS Fondazione Don Carlo Gnocchi, Milano, Italy; Pathophysiology and Transplantation, University of Milano, Milano, Italy.

Recent results show that in mainland Italian children with Autism spectrum disorder (ASD), HLA-G coding alleles distribution is skewed and an association between HLA-G*01:05N and ASD is present. Herein, in an independent cohort of Sardinian ASD (sASD) children and their relatives, we verify whether HLA-G allele association with ASD could be confirmed in this genetically peculiar insular population. One hundred children with a diagnosis of ASD, born in Sardinia and of Sardinian descent, 91 of their mothers, and 40 of their healthy siblings were enrolled. Read More

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http://dx.doi.org/10.1016/j.bbi.2019.02.003DOI Listing
February 2019

Measurement of serum hepatitis B surface antibody (HBs-Ab) levels in Iranian autistic children and evaluation of immunological memory after booster dose injection in comparison with controls.

J Med Virol 2019 Feb 13. Epub 2019 Feb 13.

Department of Virology, school of public health, Tehran University of Medical Science, Tehran, Iran.

Background: Responsiveness to hepatitis B vaccine among Autism Spectrum Disorders (ASD) patients has not been evaluated worldwide. We aimed to determine the anti-HBs antibody duration in autistic and healthy children few years after primary vaccination and evaluate their immunological memory against Hepatitis B virus (HBV( vaccine with booster dose administration.

Methods: 107 and 147 HBsAg-negative children from ASD and normal population were recruited, respectively. Read More

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http://dx.doi.org/10.1002/jmv.25429DOI Listing
February 2019

Recognising autism: a latent transition analysis of parental reports of child autistic spectrum disorder 'red flag' traits before and after age 3.

Soc Psychiatry Psychiatr Epidemiol 2019 Feb 13. Epub 2019 Feb 13.

School of Psychology, Ulster University, Derry, BT48 7JL, Northern Ireland, UK.

Purpose: It has been proposed that parents should be educated about child autistic spectrum disorder (ASD) 'red flag' traits to help professionals identify and address concerning behaviours as early as possible. This study aimed to empirically demonstrate that established/recognised 'red flag' traits in the first 3 years of life would reliably predict ASD risk severity in later childhood, associated with established ASD risk correlates and mirroring functioning diagnostic categories.

Methods: Using retrospective parental report data from the Mental Health of Children and Young People in Great Britain survey (N = 7977), latent class analysis (LCA) and a quasi -latent transition analysis were used to (1) identify profiles of variation in parent reports of child 'red flag' traits before and after age 3 and (2) model transitions in risk from 3 years and below to ≥ 3 years, respectively, per the 'optimal outcome' model. Read More

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http://dx.doi.org/10.1007/s00127-019-01664-3DOI Listing
February 2019
1 Read

HLA-DQ Genotyping, Duodenal Histology, and Response to Exclusion Diet in Autistic Children With Gastrointestinal Symptoms.

J Pediatr Gastroenterol Nutr 2019 Feb 7. Epub 2019 Feb 7.

Division of Gastroenterology and Hepatology, Città Della Salute e Della Scienza di Torino Hospital.

Objectives: A correlation between autism spectrum disorders (ASDs) and gastrointestinal (GI) problems, and a possible link between gluten consumption and ASD have been increasingly reported. Gluten/casein-free diet (GCFD) is often undertaken, with conflicting results. This study aimed at evaluating the distribution of human leukocyte antigen (HLA)-DQ2/DQ8 typing among patients with ASD with GI symptoms, together with its correlation with duodenal histology and response to GCFD. Read More

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http://dx.doi.org/10.1097/MPG.0000000000002293DOI Listing
February 2019
1 Read

Role of the Gut Microbiome in Autism Spectrum Disorders.

Adv Exp Med Biol 2019 ;1118:253-269

Department of Genomics, Central University of Kerala, Kasaragod, Kerala, India.

Autism spectrum disorder (ASD) is a severe neurodevelopmental or neuropsychiatric disorder with elusive etiology and obscure pathophysiology. Cognitive inabilities, impaired communication, repetitive behavior pattern, and restricted social interaction and communication lead to a debilitating situation in autism. The pattern of co-occurrence of medical comorbidities is most intriguing in autism, compared to any other neurodevelopmental disorders. Read More

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http://dx.doi.org/10.1007/978-3-030-05542-4_13DOI Listing
January 2019
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Parental care-seeking pathway and challenges for autistic spectrum disorders children: A mixed method study from Bhubaneswar, Odisha.

Indian J Psychiatry 2019 Jan-Feb;61(1):37-44

Indian Institute of Public Health, Public Health Foundation of India, Bhubaneswar, Odisha, India.

Background: Autism spectrum disorder (ASD) is globally a major cause of childhood disability. It is estimated that in India approximately 1.7-2 million children are affected with this disorder. Read More

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http://dx.doi.org/10.4103/psychiatry.IndianJPsychiatry_257_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341916PMC
February 2019

Disturbance of trace element and gut microbiota profiles as indicators of autism spectrum disorder: A pilot study of Chinese children.

Environ Res 2019 Feb 5;171:501-509. Epub 2019 Feb 5.

State Key Laboratory of Food Science and Technology, School of Food Science and Technology, Jiangnan University, Wuxi, Jiangsu, PR China; School of Food Science and Technology, Jiangnan University, Wuxi, Jiangsu 214122, PR China; National Engineering Research Center for Functional Food, Jiangnan University, Wuxi, Jiangsu 214122, PR China; Beijing Innovation Centre of Food Nutrition and Human Health, Beijing Technology and Business University (BTBU), Beijing 100048, PR China. Electronic address:

Autism spectrum disorder (ASD) is a neuro-developmental disorder that is characterized by impairments of reciprocal social interaction and restricted stereotyped repetitive behavior. The goal of the present study was to investigate the trace element and gut microbiota profiles of Chinese autistic children and screen out potential metallic or microbial indicators of the disease. One hundred and thirty-six children (78 with ASD and 58 healthy controls) aged from 3 to 7 years were enrolled. Read More

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http://dx.doi.org/10.1016/j.envres.2019.01.060DOI Listing
February 2019
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Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.

Psychiatr Genet 2019 Feb 6. Epub 2019 Feb 6.

The Fred A. Litwin Family Centre in Genetic Medicine, University Health Network and Mount Sinai Hospital.

The sodium voltage-gated channel α subunit 2 (SCN2A) gene encodes a subunit of sodium voltage-gated channels expressed primarily in the central nervous system that are responsible for action potential initiation and propagation in excitable cells. SCN2A mutations underlie a spectrum of distinct phenotypes, including seizure disorders, neurodevelopmental disorders, and rarer instances of episodic ataxia and schizophrenia. We report on a 38-year-old patient with adult-onset psychotic symptoms on a background of infantile-onset seizures, autistic features and episodic ataxia. Read More

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http://dx.doi.org/10.1097/YPG.0000000000000219DOI Listing
February 2019
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Investigating the factors underlying adaptive functioning in autism in the EU-AIMS Longitudinal European Autism Project.

Autism Res 2019 Feb 11. Epub 2019 Feb 11.

Department of Psychology, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.

Individuals with autism spectrum disorder (ASD) exhibit significant impairments in adaptive functioning that impact on their ability to meet the demands of everyday life. A recurrent finding is that there is a pronounced discrepancy between level of cognitive ability and adaptive functioning, and this is particularly prominent among higher-ability individuals. However, the key clinical and demographic associations of these discrepancies remain unclear. Read More

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http://dx.doi.org/10.1002/aur.2081DOI Listing
February 2019
1 Read

Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature.

Genet Med 2019 Feb 11. Epub 2019 Feb 11.

GeneDx, Gaithersburg, MD, USA.

Purpose: To define the clinical characteristics of patients with variants in TCF20, we describe 27 patients, 26 of whom were identified via exome sequencing. We compare detailed clinical data with 17 previously reported patients.

Methods: Patients were ascertained through molecular testing laboratories performing exome sequencing (and other testing) with orthogonal confirmation; collaborating referring clinicians provided detailed clinical information. Read More

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http://dx.doi.org/10.1038/s41436-019-0454-9DOI Listing
February 2019
1 Read

Risk of autistic spectrum disorder in offspring with parental mood disorders: A systematic review and meta-analysis.

J Affect Disord 2019 Feb 1;248:185-197. Epub 2019 Feb 1.

School of Social Sciences, The University of Queensland, 80 Meiers Rd, Indooroopilly, Queensland 4068Australia; School of public Heath, Curtin University, Western Australia, Australia. Electronic address:

Background: The association between mood disorders in parents and autism spectrum disorder (ASD) risk in offspring has been investigated in several studies, but the evidence is inconclusive. This systematic review and meta-analysis will explore whether an association exists between parental mood disorders and ASD risk in offspring.

Methods: A literature search was performed using the electronic databases PubMed, EMBASE, PsycINFO, and Scopus. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01650327183097
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http://dx.doi.org/10.1016/j.jad.2019.01.038DOI Listing
February 2019
9 Reads

Preschool Staff Spot Social Communication Difficulties, But Not Restricted and Repetitive Behaviors in Young Autistic Children.

J Autism Dev Disord 2019 Feb 4. Epub 2019 Feb 4.

Uppsala Child and Baby Lab, Department of Psychology, Uppsala University, 751 42, Uppsala, Sweden.

To fulfill the criteria for autism spectrum disorder (ASD), symptoms must be present across domains and contexts. We assessed preschool staff's ratings of social communication and interaction (SCI) and restricted and repetitive behaviors (RRBs) in 3-year-old siblings of children with ASD, either diagnosed (n = 12) or not diagnosed (n = 36) with ASD, and typically developing siblings with no family history of ASD (n = 16). Ratings of SCI were more accurate than RRBs in differentiating the ASD group from the two other groups, and only the SCI ratings correlated with clinical assessment of social behavior. Read More

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http://dx.doi.org/10.1007/s10803-018-03867-0DOI Listing
February 2019
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Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication.

Mol Syndromol 2019 Jan 2;9(5):253-258. Epub 2018 Oct 2.

University Hospital, A.U.O. Policlinico-Vittorio Emanuele Catania, Catania, Italy.

The Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. Read More

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http://dx.doi.org/10.1159/000493174DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362926PMC
January 2019
1 Read

An Interstitial 17q11.2 de novo Deletion Involving the Gene in a High-Functioning Autistic Patient.

Mol Syndromol 2019 Jan 1;9(5):247-252. Epub 2018 Aug 1.

Mafalda Luce Center for Pervasive Developmental Disorders, Milan, Italy.

We describe a 32-year-old male patient diagnosed with high-functioning autism spectrum disorder carrying a de novo 196-kb interstitial deletion at chromosome 17q11.2. The deletion was detected by array CGH (180K Agilent) and confirmed by quantitative PCR on genomic DNA. Read More

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http://dx.doi.org/10.1159/000491802DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6362853PMC
January 2019
2 Reads

Neuromodulation of autism spectrum disorders using vagal nerve stimulation.

J Clin Neurosci 2019 Feb 4. Epub 2019 Feb 4.

Cornwall Partnership NHS Foundation Trust, Threemilestone Industrial Estate, Truro TR4 9LD, UK; Exeter Medical School, Knowledge Spa, Royal Cornwall Hospital, Truro TR1 3HD, UK. Electronic address:

Influential theories propose an important role for the autonomic nervous system in social behaviour and emotion regulation. Difficulties with these capabilities occur in autism spectrum disorders (ASD). Vagus nerve stimulation (VNS) is a neuromodulation technique that stimulates autonomic pathways by means of an electrode implanted around the left vagus nerve in the neck. Read More

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http://dx.doi.org/10.1016/j.jocn.2019.01.042DOI Listing
February 2019
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Autism spectrum disorder in a patient with a genomic rearrangement that only involves the EPHA5 gene.

Psychiatr Genet 2019 Feb 4. Epub 2019 Feb 4.

Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital.

About one child in 68 is affected by the autism spectrum disorder (ASD), one of the most common neurodevelopmental disorders linked to intellectual disability, especially in males, intellectual disability being diagnosable in about 60-70% of autistic individuals. The biological bases of ASD are not yet fully known, but they are generally considered multifactorial, although many genes and genomic loci have been proposed to be possibly associated with this condition. In this report, we describe the case of a 14-year-old female Italian proband affected by ASD, carrying a novel ∼270 kb interstitial microduplication, localized at the distal portion of the 4q13. Read More

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http://dx.doi.org/10.1097/YPG.0000000000000217DOI Listing
February 2019
4 Reads

A Tendency Towards Details? Inconsistent Results on Auditory and Visual Local-To-Global Processing in Absolute Pitch Musicians.

Front Psychol 2019 22;10:31. Epub 2019 Jan 22.

Institute of Music Physiology and Musicians' Medicine, Hanover University of Music, Drama and Media, Hanover, Germany.

Absolute pitch, the ability to name or produce a musical tone without a reference, is a rare ability which is often related to early musical training and genetic components. However, it remains a matter of debate why absolute pitch is relatively common in autism spectrum disorders and why absolute pitch possessors exhibit higher autistic traits. By definition absolute pitch is an ability that does not require the relation of tones but is based on a lower-level perceptual entity than relative pitch (involving relations between tones, intervals, and melodies). Read More

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http://dx.doi.org/10.3389/fpsyg.2019.00031DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349732PMC
January 2019
1 Read

Maternal thyroid autoimmunity associated with acute-onset neuropsychiatric disorders and global regression in offspring.

Dev Med Child Neurol 2019 Feb 5. Epub 2019 Feb 5.

Neurology Department, The Children's Hospital at Westmead Clinical School, University of Sydney, Sydney, New South Wales, Australia.

Epidemiological studies, animal models, and case-control studies indicate maternal immune activation may be an important factor involved in disease expression of autism spectrum disorder (ASD), Tourette syndrome, and obsessive-compulsive disorder (OCD). We report eight children (mean age 6y 6mo [range 4-15y]; six males and two females) referred over a 2-year period with at least one of these neurodevelopmental disorders plus a maternal history of thyroid autoimmunity. Seven of eight children presented with an abrupt onset of neuropsychiatric symptoms (OCD [n=6], tics [n=5], and/or psychosis [n=1]), associated with an autistic or global regression. Read More

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http://dx.doi.org/10.1111/dmcn.14167DOI Listing
February 2019
1 Read

A follow-up study on the long-term effects of rehabilitation in children with autism spectrum disorders.

NeuroRehabilitation 2019 Jan 29. Epub 2019 Jan 29.

Department of Child Healthcare, Wuxi Children's Hospital, Wuxi, Jiangsu, P.R. China.

Background: OBJECTIVE:This study aimed to investigate the effects of long-term rehabilitation and related factors affecting the recovery of autistic children.

Methods: A total of 137 autistic children were followed up for 3 years. They received two neuropsychological assessments at the first visit and 3 years after referral. Read More

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http://dx.doi.org/10.3233/NRE-182502DOI Listing
January 2019
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Overt social interaction and resting state in young adult males with autism: core and contextual neural features.

Brain 2019 Jan 28. Epub 2019 Jan 28.

Section on Cognitive Neuropsychology, Laboratory of Brain and Cognition, NIMH, NIH, Bethesda, MD, USA.

Conversation is an important and ubiquitous social behaviour. Individuals with autism spectrum disorder (autism) without intellectual disability often have normal structural language abilities but deficits in social aspects of communication like pragmatics, prosody, and eye contact. Previous studies of resting state activity suggest that intrinsic connections among neural circuits involved with social processing are disrupted in autism, but to date no neuroimaging study has examined neural activity during the most commonplace yet challenging social task: spontaneous conversation. Read More

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https://academic.oup.com/brain/advance-article/doi/10.1093/b
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http://dx.doi.org/10.1093/brain/awz003DOI Listing
January 2019
4 Reads

Hyper-excitability and hyper-plasticity disrupt cerebellar signal transfer in the KO mouse model of autism.

J Neurosci 2019 Jan 29. Epub 2019 Jan 29.

Dept of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.

Autism spectrum disorders (ASD) are pervasive neurodevelopmental conditions that often involve mutations affecting synaptic mechanisms. Recently, the involvement of cerebellum in ASD has been suggested but the underlying functional alterations remained obscure. We investigated single-neuron and microcircuit properties in IB2 KO mice of either sex. Read More

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http://www.jneurosci.org/lookup/doi/10.1523/JNEUROSCI.1985-1
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http://dx.doi.org/10.1523/JNEUROSCI.1985-18.2019DOI Listing
January 2019
3 Reads

A new machine learning model based on induction of rules for autism detection.

Health Informatics J 2019 Jan 29:1460458218824711. Epub 2019 Jan 29.

University of Huddersfield, UK.

Autism spectrum disorder is a developmental disorder that describes certain challenges associated with communication (verbal and non-verbal), social skills, and repetitive behaviors. Typically, autism spectrum disorder is diagnosed in a clinical environment by licensed specialists using procedures which can be lengthy and cost-ineffective. Therefore, scholars in the medical, psychology, and applied behavioral science fields have in recent decades developed screening methods such as the Autism Spectrum Quotient and Modified Checklist for Autism in Toddlers for diagnosing autism and other pervasive developmental disorders. Read More

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http://dx.doi.org/10.1177/1460458218824711DOI Listing
January 2019

Chewing induced reflex seizures ("eating epilepsy") and eye closure sensitivity as a common feature in pediatric patients with SYNGAP1 mutations: Review of literature and report of 8 cases.

Seizure 2019 Feb 22;65:131-137. Epub 2018 Dec 22.

Paracelsus Medical University, Strubergasse 21, 5020 Salzburg, Austria; Hospital for Neuropediatrics and Neurological Rehabilitation, Epilepsy Center for Children and Adolescents, Krankenhausstr. 20, 83569 Vogtareuth, Germany.

Purpose: Heterozygous SYNGAP1 gene mutations have been associated with several forms of idiopathic generalized epilepsy, autism spectrum disorders and delay of psychomotor development. We report eight patients with a SYNGAP1 mutation and chewing/eating induced reflex seizures as new phenotype and compare them to other patients with eating epilepsy and genetic mutations.

Methods: Presentation of clinical and anamnestic features and retrospective analysis of Video-EEG data of a 4 year old index patient with SYNGAP1 mutation and chewing /eating induced seizures. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S10591311183046
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http://dx.doi.org/10.1016/j.seizure.2018.12.020DOI Listing
February 2019
3 Reads

Abnormal empathy-like pro-social behaviour in the valproic acid model of autism spectrum disorder.

Behav Brain Res 2019 Jan 22;364:11-18. Epub 2019 Jan 22.

Translational Research Group in Autism Spectrum Disorders-GETTEA, Universidade Federal do Rio Grande do Sul (UFRGS), Ramiro Barcelos street, 2600, 90035-003, Porto Alegre, RS, Brazil; National Institute of Science and Technology on Neuroimmunomodulation (INCT-NIM), Brasil avenue, 4365, Manguinhos, 21045-900, Rio de Janeiro, RJ, Brazil; School of Pharmacy and Biomedical Sciences, University of Central Lancashire, PR1 2HE, Lancashire, Preston, England, UK. Electronic address:

Impairments in social behaviour are a defining feature of autism spectrum disorder (ASD). Individuals with ASD also usually present some difficulty to recognize or understand another person's feelings. Therefore, it is possible that altered empathy processing could hinder typical social interaction in ASD. Read More

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http://dx.doi.org/10.1016/j.bbr.2019.01.034DOI Listing
January 2019

Association between CNTNAP2 polymorphisms and autism: A family-based study in the chinese han population and a meta-analysis combined with GWAS data of psychiatric genomics consortium.

Autism Res 2019 Jan 25. Epub 2019 Jan 25.

Peking University Sixth Hospital, Beijing, 100191, China.

Autism is a childhood neuropsychiatric disorder with evidence of a strong genetic component in the complex etiologies. Contactin-associated protein-like 2 (CNTNAP2), a member of the neurexin superfamily, plays an essential role in neural development. CNTNAP2 was considered as one of the most susceptible genes for autism spectrum disorder (ASD). Read More

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http://dx.doi.org/10.1002/aur.2078DOI Listing
January 2019
1 Read

Beta oscillations precede joint attention and correlate with mentalization in typical development and autism.

Cortex 2019 Jan 2;113:210-228. Epub 2019 Jan 2.

División de Neurociencias, Centro de Investigación en Complejidad Social (neuroCICS), Facultad de Gobierno, Universidad del Desarrollo, Santiago, Chile. Electronic address:

A precursor of adult social functioning is joint attention (JA), which is the capacity to share attention on an object with another person. JA precedes the development of the capacity to attribute mental states to others (i.e. Read More

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http://dx.doi.org/10.1016/j.cortex.2018.12.018DOI Listing
January 2019

Autistic traits and components of the folate metabolic system: an explorative analysis in the eastern Indian ASD subjects .

Nutr Neurosci 2019 Jan 24:1-8. Epub 2019 Jan 24.

a Manovikas Biomedical Research and Diagnostic Centre , Manovikas Kendra , Kolkata , West Bengal , India.

Objectives: Proper metabolism of the folate is crucial for maintaining DNA integrity, chromosome structure, methylation, as well as gene expression, and thus, folate is speculated to contribute to the etiology of different disorders. Since the etiology of autism spectrum disorder (ASD) is believed to be influenced by both genetic and environmental factors, we hypothesized that functional single nucleotide polymorphisms (SNPs) affecting folate metabolic pathway may have a causal role in the etiology of ASD.

Methods: We analyzed three SNPs, rs2071010, rs2298444 and rs1801198 (in the folate receptor 1, folate receptor 2 and transcobalamin 2, respectively), in 867 ethnically matched subjects including 206 ASD probands and 286 controls. Read More

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http://dx.doi.org/10.1080/1028415X.2019.1570442DOI Listing
January 2019

Altered gut microbiota and short chain fatty acids in Chinese children with autism spectrum disorder.

Sci Rep 2019 Jan 22;9(1):287. Epub 2019 Jan 22.

Department of Gastroenterology, the Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, 450052, China.

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is characterized by impairments in social interactions and communication, restricted interests and repetitive behaviors. Several studies report a high prevalence of gastrointestinal (GI) symptoms in autistic individuals. Cumulative evidence reveals that the gut microbiota and its metabolites (especially short-chain fatty acids, SCFAs) play an important role in GI disorders and the pathogenesis of ASD. Read More

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http://www.nature.com/articles/s41598-018-36430-z
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http://dx.doi.org/10.1038/s41598-018-36430-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342986PMC
January 2019
16 Reads

Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.

Transl Psychiatry 2019 Jan 16;9(1). Epub 2019 Jan 16.

Institute for Human Genetics, University Medical Centre Hamburg-Eppendorf, 20246, Hamburg, Germany.

In humans, genetic variants of DLGAP1-4 have been linked with neuropsychiatric conditions, including autism spectrum disorder (ASD). While these findings implicate the encoded postsynaptic proteins, SAPAP1-4, in the etiology of neuropsychiatric conditions, underlying neurobiological mechanisms are unknown. To assess the contribution of SAPAP4 to these disorders, we characterized SAPAP4-deficient mice. Read More

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http://dx.doi.org/10.1038/s41398-018-0327-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6341115PMC
January 2019
2 Reads

DAPTA, a C-C chemokine receptor 5 (CCR5) antagonist attenuates immune aberrations by downregulating Th9/Th17 immune responses in BTBR T Itpr3tf/J mice.

Eur J Pharmacol 2019 Mar 15;846:100-108. Epub 2019 Jan 15.

Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh, Saudi Arabia; Department of Pharmacology and Toxicology, College of Pharmacy, Al-Azhar University, Cairo, Egypt.

Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized by deficits in social interaction, communication, and repetitive behaviors. BTBR T Itpr3tf/J (BTBR) mice, a preclinical autistic model featuring ASD symptoms as defined by social relations, was used in this study. We evaluated the potentially protective effect of D-Ala-peptide T-amide (DAPTA), a selective C-C chemokine receptor 5 (CCR5) antagonist, in BTBR mice. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00142999193002
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http://dx.doi.org/10.1016/j.ejphar.2019.01.016DOI Listing
March 2019
8 Reads

Temple syndrome diagnosed in an adult patient with clinical autism spectrum disorder.

Clin Case Rep 2019 Jan 8;7(1):15-18. Epub 2018 Nov 8.

Department of Pediatrics and Child Health Kurume University School of Medicine Kurume, Fukuoka Japan.

Temple syndrome (TS14) leads to growth failure, precocious puberty, and diabetes mellitus. However, the long-term prognosis, including the development of social behavior in TS14 patients, remains unclarified. We report the clinical course of a male patient with autism spectrum disorder that received a diagnosis of TS14 at 33 years of age. Read More

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http://doi.wiley.com/10.1002/ccr3.1895
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http://dx.doi.org/10.1002/ccr3.1895DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332777PMC
January 2019
9 Reads

Disability, functioning, and quality of life among treatment-seeking young autistic adults and its relation to depression, anxiety, and stress.

Autism 2019 Jan 17:1362361318823925. Epub 2019 Jan 17.

1 The University of Sydney, Australia.

In this study, we consecutively recruited treatment-seeking young autistic adults without intellectual impairment aged 16-30 years who presented to a mental health service and evaluated general health (distress, quality of life, and disability), functioning (work loss days and social functioning), and mood symptoms (depression, anxiety, and stress) in those diagnosed with autism spectrum disorder ( n = 96). This group was compared to young adults presenting to the same service with primary mental health disorders (depression, n = 343; bipolar, n = 132; psychosis, n = 166; and anxiety, n = 303). This study also investigated the influence of mood symptoms on general health and functioning in the autism spectrum disorder group. Read More

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http://dx.doi.org/10.1177/1362361318823925DOI Listing
January 2019
1 Read

MicroRNA Cross-Involvement in Autism Spectrum Disorders and Atopic Dermatitis: A Literature Review.

J Clin Med 2019 Jan 14;8(1). Epub 2019 Jan 14.

School and Division of Allergy and Clinical Immunology, Department of Clinical and Experimental Medicine, University Hospital "G. Martino", Via Consolare Valeria SNC, 98125 Messina, Italy.

Autism Spectrum Disorder (ASD) is a category of neurodevelopmental disturbances seriously affecting social skills, to which the scientific community has paid great attention in last decades. To date, their pathogenesis is still unknown, but several studies highlighted the relevance of gene-environment interactions in the onset of ASD. In addition, an immune involvement was seen in a wide number of ASD subjects, leading several researchers to hypothesize a possible common pathogenesis between ASD and immune disturbances, including Atopic Dermatitis (AD). Read More

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http://www.mdpi.com/2077-0383/8/1/88
Publisher Site
http://dx.doi.org/10.3390/jcm8010088DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352260PMC
January 2019
6 Reads

Automated identification for autism severity level: EEG analysis using empirical mode decomposition and second order difference plot.

Behav Brain Res 2019 Apr 11;362:240-248. Epub 2019 Jan 11.

Department of Biomedical Engineering, Jordan University of Science and Technology, Jordan. Electronic address:

Background: Previous automated EEG-based diagnosis of autism spectrum disorders (ASD) using various nonlinear EEG analysis methods were limited to distinguish only children with ASD from those normally developed without approaching their autistic features severity.

Objectives: Identifying potential differences between children with mild and sever ASD based on EEG analysis using empirical mode decomposition (EMD) and second-order difference plot (SODP) models, and determining the accuracy of such model outcome measures to distinguish ASD severity levels.

Methods: Resting-state EEG data recorded for 36 children, who divided equally into two matched groups of mild and sever ASD. Read More

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http://dx.doi.org/10.1016/j.bbr.2019.01.018DOI Listing
April 2019
2 Reads

Synesthesia & autistic features in a large family: Evidence for spatial imagery as a common factor.

Behav Brain Res 2019 Apr 9;362:266-272. Epub 2019 Jan 9.

Center of Excellence for Pervasive Developmental Disorders of the University of Montreal (CETEDUM), Rivières-des-Prairies Hospital, Montreal, Quebec, Canada; Research Center of CIUSSS of the North of Montreal and Department of Psychiatry, University of Montreal, Montreal, Quebec, Canada.

Background: Autism and synesthesia are neurodevelopmental conditions associated with variants of perceptual processing. They also share some genetic variants and include a large magnitude of intra-categorical variation: 60 types for synesthesia, as well as a spectrum for autism. In order to investigate the relationship between these two phenomena, we investigated the family of FC, an autistic individual who also possess savant abilities and synesthesia manifestations. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S01664328183157
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http://dx.doi.org/10.1016/j.bbr.2019.01.014DOI Listing
April 2019
8 Reads

The Role of Connexins in Gastrointestinal Diseases.

J Mol Biol 2019 Feb 11;431(4):643-652. Epub 2019 Jan 11.

Department of Medicine and Therapeutics, Chinese University of Hong Kong, Hong Kong, PR China; Li Ka Shing Institute of Health Sciences, Faculty of Medicine, Chinese University of Hong Kong, Hong Kong, PR China. Electronic address:

Gap junctions are hexagonal arrays of protein molecules in the plasma membrane and were first described in Mauthner cell synapses of goldfish. They form pathways for coupling between cells, allowing passive, electrotonic spread of ions and also passage of larger molecules such as amino acids and nucleotides. They are expressed in both excitable and non-excitable tissues. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00222836183106
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http://dx.doi.org/10.1016/j.jmb.2019.01.007DOI Listing
February 2019
6 Reads
4.333 Impact Factor

Striatal Inhibition of MeCP2 or TSC1 Produces Sociability Deficits and Repetitive Behaviors.

Exp Neurobiol 2018 Dec 28;27(6):539-549. Epub 2018 Dec 28.

Department of Brain and Cognitive Sciences, Ewha Womans University, Seoul 03760, Korea.

Autism spectrum disorder (ASD) is a heterogeneous group of neurobehavioral disorders characterized by the two core domains of behavioral deficits, including sociability deficits and stereotyped repetitive behaviors. It is not clear whether the core symptoms of ASD are produced by dysfunction of the overall neural network of the brain or that of a limited brain region. Recent studies reported that excessive glutamatergic or dopaminergic inputs in the dorsal striatum induced sociability deficits and repetitive behaviors. Read More

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http://dx.doi.org/10.5607/en.2018.27.6.539DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6318563PMC
December 2018
1 Read

Deletion of Semaphorin 3F in Interneurons Is Associated with Decreased GABAergic Neurons, Autism-like Behavior, and Increased Oxidative Stress Cascades.

Mol Neurobiol 2019 Jan 11. Epub 2019 Jan 11.

Department of Pediatrics, University of Louisville School of Medicine, Louisville, KY, USA.

Autism and epilepsy are diseases which have complex genetic inheritance. Genome-wide association and other genetic studies have implicated at least 500+ genes associated with the occurrence of autism spectrum disorders (ASD) including the human semaphorin 3F (Sema 3F) and neuropilin 2 (NRP2) genes. However, the genetic basis of the comorbid occurrence of autism and epilepsy is unknown. Read More

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http://dx.doi.org/10.1007/s12035-018-1450-9DOI Listing
January 2019
1 Read

Profiles and academic trajectories of cognitively gifted children with autism spectrum disorder.

Autism 2019 Jan 11:1362361318804019. Epub 2019 Jan 11.

3 University of California, Merced, CA, USA.

Gifted children with autism spectrum disorder (ASD) are often referred to as twice-exceptional, the term that highlights the co-occurrence of exceptional challenges and exceptional giftedness. This study performed secondary data analysis on samples of twice-exceptional children from the Pre-Elementary Education Longitudinal Study and the Special Education Elementary Longitudinal Study datasets. The results provide a descriptive profile of twice-exceptional (e. Read More

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http://journals.sagepub.com/doi/10.1177/1362361318804019
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http://dx.doi.org/10.1177/1362361318804019DOI Listing
January 2019
4 Reads

A Neurorobotics Simulation of Autistic Behavior Induced by Unusual Sensory Precision.

Comput Psychiatr 2018 Dec;2:164-182

Department of Intermedia Art and Science, Waseda University, Tokyo, Japan.

Recently, applying computational models developed in cognitive science to psychiatric disorders has been recognized as an essential approach for understanding cognitive mechanisms underlying psychiatric symptoms. Autism spectrum disorder is a neurodevelopmental disorder that is hypothesized to affect information processes in the brain involving the estimation of sensory precision (uncertainty), but the mechanism by which observed symptoms are generated from such abnormalities has not been thoroughly investigated. Using a humanoid robot controlled by a neural network using a precision-weighted prediction error minimization mechanism, it is suggested that both increased and decreased sensory precision could induce the behavioral rigidity characterized by resistance to change that is characteristic of autistic behavior. Read More

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http://dx.doi.org/10.1162/cpsy_a_00019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6317752PMC
December 2018
1 Read

Negatively Skewed Locomotor Activity Is Related to Autistic Traits and Behavioral Problems in Typically Developing Children and Those With Autism Spectrum Disorders.

Front Hum Neurosci 2018 21;12:518. Epub 2018 Dec 21.

National Center of Neurology and Psychiatry, Department of Preventive Intervention for Psychiatric Disorders, National Institute of Mental Health, Tokyo, Japan.

An important objective for researchers and clinicians is to gain a better understanding of the factors that underlie autism spectrum disorders (ASDs). It is possible that investigating objective and quantitative behavioral phenotypes and their relationship to clinical characteristics, such as autistic traits and other emotional/behavioral problems, might facilitate this process. Given this, in the current study we examined the link between locomotor dynamics and clinical characteristics, including autistic traits and emotional/behavioral problems, in children with ASD ( = 14) and typically developing (TD) children ( = 13). Read More

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http://dx.doi.org/10.3389/fnhum.2018.00518DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308199PMC
December 2018
2 Reads

Role of Milk-Derived Opioid Peptides and Proline Dipeptidyl Peptidase-4 in Autism Spectrum Disorders.

Nutrients 2019 Jan 4;11(1). Epub 2019 Jan 4.

Department of Biochemistry, Faculty of Biology and Biotechnology, University of Warmia and Mazury, Oczapowskiego 1A Street, 10-19 Olsztyn, Poland.

Opioid peptides released during digestion of dietary proteins such as casein, were suggested to contribute to autism development, leading to the announcement of opioid excess hypothesis of autism. This paper examines role of enzyme proline dipeptidyl peptidase-4 (DPPIV; EC 3.4. Read More

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http://dx.doi.org/10.3390/nu11010087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6356206PMC
January 2019
1 Read

Modeling Inflammation in Autism Spectrum Disorders Using Stem Cells.

Front Pediatr 2018 12;6:394. Epub 2018 Dec 12.

Laboratory of Genetics, The Salk Institute, La Jolla, CA, United States.

Recent reports show an increase in the incidence of Autism Spectrum Disorders (ASD) to 1 in every 59 children up to 8 years old in 11 states in North America. Induced pluripotent stem cell (iPSC) technology offers a groundbreaking platform for the study of polygenic neurodevelopmental disorders in live cells. Robust inflammation states and immune system dysfunctions are associated with ASD and several cell types participate on triggering and sustaining these processes. Read More

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https://www.frontiersin.org/article/10.3389/fped.2018.00394/
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http://dx.doi.org/10.3389/fped.2018.00394DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6299043PMC
December 2018
2 Reads

Social Cognition in Down Syndrome: Face Tuning in Face-Like Non-Face Images.

Front Psychol 2018 18;9:2583. Epub 2018 Dec 18.

Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.

Individuals with Down syndrome (DS) are widely believed to possess considerable socialization strengths. However, the findings on social cognition capabilities are controversial. In the present study, we investigated whether individuals with DS exhibit shortage in face tuning, one of the indispensable components of social cognition. Read More

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http://dx.doi.org/10.3389/fpsyg.2018.02583DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305370PMC
December 2018
2 Reads

Gait Pattern and Motor Performance During Discrete Gait Perturbation in Children With Autism Spectrum Disorders.

Front Psychol 2018 11;9:2530. Epub 2018 Dec 11.

Scientific Institute, IRCCS E. Medea, Lecco, Italy.

Quantitative evaluation of gait has been considered a useful tool with which to identify subtle signs of motor system peculiarities in autism spectrum disorder (ASD). However, there is a paucity of studies reporting gait data in ASD as well as investigating learning processes of locomotor activity. Novel advanced technologies that couple treadmills with virtual reality environments and motion capture systems allows the evaluation of gait patterns on multiple steps and the effects of induced gait perturbations, as well as the ability to manipulate visual and proprioceptive feedbacks. Read More

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http://dx.doi.org/10.3389/fpsyg.2018.02530DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6297554PMC
December 2018
1 Read

Cross-Cultural Content Validity of the Autism Program Environment Rating Scale in Sweden.

J Autism Dev Disord 2019 Jan 8. Epub 2019 Jan 8.

Center of Neurodevelopmental Disorders (KIND), Division of Neuropsychiatry, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Increasing rates of autism spectrum disorder (ASD) and younger age at diagnosis pose a challenge to preschool intervention systems. In Sweden, most young autistic children receive intervention service in community-based preschool programs, but no tool is yet available to assess the quality of the preschool learning environment. This study adapted the Autism Program Environment Rating Scale Preschool/Elementary to Swedish community context (APERS-P-SE). Read More

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http://dx.doi.org/10.1007/s10803-018-03870-5DOI Listing
January 2019
1 Read

Pathological priming causes developmental gene network heterochronicity in autistic subject-derived neurons.

Nat Neurosci 2019 Feb 7;22(2):243-255. Epub 2019 Jan 7.

Laboratory of Genetics, The Salk Institute for Biological Studies, La Jolla, CA, USA.

Autism spectrum disorder (ASD) is thought to emerge during early cortical development. However, the exact developmental stages and associated molecular networks that prime disease propensity are elusive. To profile early neurodevelopmental alterations in ASD with macrocephaly, we monitored subject-derived induced pluripotent stem cells (iPSCs) throughout the recapitulation of cortical development. Read More

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http://dx.doi.org/10.1038/s41593-018-0295-xDOI Listing
February 2019
3 Reads
16.095 Impact Factor

Epilepsy and interictal epileptiform activity in patients with autism spectrum disorders.

Epilepsy Behav 2019 Jan 2;92:45-52. Epub 2019 Jan 2.

Institute of Mental Health, Belgrade, Serbia; Faculty of Medicine, University of Belgrade, Belgrade, Serbia. Electronic address:

Purpose: The purpose of this study was to determine the prevalence of epilepsy and subclinical epileptiform abnormalities in children with autism spectrum disorder (ASD), and to investigate its effects on core autistic symptoms and adaptive behavior skills.

Methods: Patients with diagnosis of ASD who met full criteria on Autism Diagnostic Interview-Revised (ADI-R) were included in the study. Adaptive behavior skills were assessed by Vineland Adaptive Behavior Scale-II (VABS-II). Read More

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http://dx.doi.org/10.1016/j.yebeh.2018.12.011DOI Listing
January 2019
2 Reads

The Role of Vitamins in Autism Spectrum Disorder: What Do We Know?

J Mol Neurosci 2019 Jan 3. Epub 2019 Jan 3.

Institute of General and Ecological Chemistry, Department of Chemistry, Technical University of Lodz, Lodz, Poland.

Vitamin or mineral supplementation is considered to be the most commonly used medical treatment for autism spectrum disorder (ASD), in addition to other interventions such as neurological and psychological interventions. There is not much evidence of therapeutic efficacy between vitamin and mineral supplementation and improvements in ASD. However, several researchers have noted that patients with ASD have various metabolic and nutritional abnormalities including issues with sulfation, methylation, glutathione redox imbalances, oxidative stress, and mitochondrial dysfunction. Read More

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http://link.springer.com/10.1007/s12031-018-1237-5
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http://dx.doi.org/10.1007/s12031-018-1237-5DOI Listing
January 2019
5 Reads
2.343 Impact Factor