Results 31 to 40 of about 2,160,111 (122)

The Subjective Experience of Music in Autism Spectrum Disorder [PDF]

, 2009
Semi-structured interviews were conducted with 12 high-functioning adults on the autism spectrum in order to examine the nature of their personal experiences of music. The analysis showed that most participants exploit music for a wide range of purposes
Rory Allen, Heaton, Pam F., Hill, Elisabeth L., Pamela Heaton, Allen, Rory, Elisabeth Hill   +5 more
core   +1 more source

Migration and autism spectrum disorder: population-based study. [PDF]

, 2012
BACKGROUND: Migration has been implicated as a risk factor for autism, but evidence is limited and inconsistent. AIMS: To investigate the relationship between parental migration status and risk of autism spectrum disorder, taking into consideration the ...
Goodman, Anna, Lundberg, Michael, Rai, D, Serlachius, E, Lundberg, M, Idring, Selma, Koupil, Ilona, Dalman, C, Magnusson, Cecilia, Koupil, I, Svensson, Anna, Goodman, A, Serlachius, Eva, Magnusson, C, Svensson, A, Rai, Dheeraj, Dalman, Christina, Idring, S, Magnusson, C,, Dalman, C,, Lundberg, M,, Serlachius, E,, Goodman, Anna,, Rai, D,, Koupil, Ilona,, Koupil, I,   +25 more
core   +1 more source

Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene

Orphanet Journal of Rare Diseases, 2011
Objective To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA). Case report Two brothers are described who developed progressive cerebellar ataxia at 3 1/2 and 18 years, respectively.
Wanders Ronald J, Waterham Hans R, Ferdinandusse Sacha, Sevin Caroline, Aubourg Patrick   +4 more
doaj   +1 more source

Editorial Note: Impact of COVID-19 on Spectrum operations

, 2020
To support our authors, reviewers and editors during the COVID-19 pandemic, the Spectrum Editorial Board has relaxed its timelines for the publication of this most recent issue (Issue 5).  We are working with our authors on their Issue 5 submissions,
Editorial Board, Spectrum
core   +1 more source

High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in Pex1-G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment

Cells, 2020
Genetic alterations in PEX genes lead to peroxisome biogenesis disorder. In humans, they are associated with Zellweger spectrum disorders (ZSD). No validated treatment has been shown to modify the dismal natural history of ZSD. Liver transplantation (LT)
Tanguy Demaret, Jonathan Evraerts, Joachim Ravau, Martin Roumain, Giulio G. Muccioli, Mustapha Najimi, Etienne M. Sokal   +6 more
doaj   +1 more source

Zellweger Syndrome: A Case Report

Journal of Nepal Medical Association
Zellweger syndrome is an autosomal recessive disease within the spectrum of peroxisome biogenesis disorder manifesting in the neonatal period with profound dysfunction of the central nervous system, liver and kidney.
Prajwala Yogi, Chunauti Bahik, Rahul Yadav, Puja Bhattarai, Rakshya Pandey, Sunil Raja Manandar   +5 more
doaj   +1 more source

Genetic Spectrum of Cholestasis in Tunisia and Diagnostic Yield of Next‐Generation Sequencing: Case Series of 70 Patients

Clinical Genetics, EarlyView.
Genetic hepatic cholestasis: NGS diagnostic yield. Over a 10‐year period, NGS (gene panel/WES) established a genetic diagnosis in 70% of 66 families with hepatic cholestasis, with a molecular yield of 62%. ABCB11 was the most mutated gene, and PFIC Type 2 was the leading diagnosis, underscoring the critical role of NGS in guiding genetic counseling and
Amal Abdmouleh, Houweyda Jilani, Imen Rejeb, Syrine Hizem, Nicolas Pottier, Romain Larrue, Wendy Arondal, Lucie Hanquet, Rania Benrabeh, Olfa Bouyahia, Sonia Mazigh, Yasmina Elaribi, Lamia Benjemaa   +12 more
wiley   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, Volume 105, Issue 10, Page 1950-1964, October 2026.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Prenatal and post-natal imaging of Zellweger spectrum disorder with novel prenatal sonographic findings [PDF]

Peroxisomes are membrane-enclosed organelles in the cell which contain enzymes involved in various metabolic processes. Peroxisomal disorders are classified as peroxisome biogenesis disorder and single enzymatic defects. Zellweger spectrum disorder is an
Haribalakrishna, Anitha, Bolke, Priti, Nair, Sruthi, Thakkar, Hemangini, Mhatre, Shweta, Bansal, Roopali, R. R., Prashanth, Dhulshette, Sumeet A.   +7 more
core   +1 more source