Results 41 to 50 of about 21,657 (219)

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta‐Analysis

Movement Disorders, EarlyView.
Abstract Background Variants in GBA1 are important genetic risk factors for synucleinopathies, including Parkinson's disease (PD). Although several GBA1 variants are established risk or severity modifiers, the role of the p.E427K variant remains unclear.
Leah V. Chifamba, Sitki Cem Parlar, Emma N. Somerville, Lang Liu, Eric Yu, Farnaz Asayesh, Jamil Ahmad, Meron Teferra, Jennifer A. Ruskey, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Irina Miliukhina, Lior Greenbaum, Sharon Hassin‐Baer, Orly Goldstein, Mandy Radefeldt, Peter Bauer, Christian Beetz, Allison A. Dilliott, James C. Beck, Konstantin Senkevich, ROPAD Study Group, The Parkinson's Foundation PD GENEration Study, Christine Klein, Roy N. Alcalay, Ziv Gan‐Or   +30 more
wiley   +1 more source

Rare‐Variant Burden across Lysosomal Genes Implicates Sialylation and Ganglioside Metabolism in Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background Lysosomal dysfunction is central to Parkinson's disease (PD) pathogenesis, with GBA1 representing the strongest established genetic risk factor. Numerous other genes involved in lysosomal sphingolipid, glycosphingolipid, and ceramide metabolism have been proposed as contributors to PD, highlighting the need for genetic analyses ...
Konstantin Senkevich, Sitki Cem Parlar, Cloe Chantereault, Lang Liu, Eric Yu, Uladzislau Rudakou, Jamil Ahmad, Jennifer A. Ruskey, Farnaz Asayesh, Dan Spiegelman, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin‐Baer, Irina Miliukhina, Alla Timofeeva, Anton Emelyanov, Sofya Pchelina, Roy N. Alcalay, Ziv Gan‐Or   +21 more
wiley   +1 more source

IgG abnormality in narcolepsy and idiopathic hypersomnia. [PDF]

PLoS ONE, 2010
BACKGROUND: A close association between narcolepsy and the Human Leukocyte Antigen (HLA)-DQB1*0602 allele suggests the involvement of the immune system, or possibly an autoimmune process. We investigated serum IgG levels in narcolepsy.
Susumu Tanaka, Makoto Honda
doaj   +1 more source

Salivary biomarkers in sleep‐related disorders

Sleep Research, EarlyView.
Abstract The exploration of salivary biomarkers has emerged as a promising avenue in the diagnosis and management of sleep‐related disorders, such as obstructive sleep apnea (OSA), insomnia, and sleep deprivation. Saliva is a noninvasive biofluid that contains a wealth of biological markers, reflecting both local and systemic physiological changes ...
Chuan Xiang Li, Yi Wang, Ying Ni Lin, Jun Qi Lin, Ya Ru Yan, Xian wen Sun, Liu Zhang, Shi Qi Li, Ning Li, Qing Yun Li   +9 more
wiley   +1 more source

Central disorders of hypersomnolence in children and adults: A comparative study from South India

Annals of Indian Academy of Neurology, 2019
Background: Narcolepsy and idiopathic hypersomnolence (IHS) are rare disorders. In Western populations, the reported prevalence of narcolepsy is 0.02%–0.05%. In Indian subcontinent, there are few reports on narcolepsy and none on IHS so far.
Madhukar Trivedi, Sapna Erat Sreedharan, Shana N Nair, C A Anees, J P Unnikrishnan, P S Sarma, Ashalatha Radhakrishnan   +6 more
doaj   +1 more source

Symptomatic Narcolepsy and Generalized Seizures Following Surgery for Rathke’s Cleft Cyst [PDF]

Sleep Medicine Research, 2014
Symptomatic narcolepsy is a rare disorder caused by other underlying neurological disorders. One of the most frequent causes for symptomatic narcolepsy is brain tumors, usually in the region of the third ventricle and the diencephalon.
On-Hwa Ryu, Han Uk Ryu, Sang-Ahm Lee
doaj   +1 more source

Sleep Disorders in Klinefelter Syndrome and Other Sex Chromosome Aneuploidies: A Narrative Review

Andrology, EarlyView.
ABSTRACT Background Sex chromosome aneuploidies (SCAs) are among the most frequent types of chromosomal aneuploidies and include Klinefelter syndrome (47,XXY and higher‐grade variants), 47,XYY syndrome, Turner syndrome (45,X), and trisomy X (47,XXX).
Roberto Paparella, Fabiola Panvino, Ida Pucarelli, Luigi Tarani   +3 more
wiley   +1 more source

Genetic Landscape of Hearing Loss in Brazilian Patients Reveals Population‐Specific Variants and Clinical Correlations

Clinical Genetics, EarlyView.
The Burden: Hearing loss (HL) is the most prevalent sensory disorder globally, affecting 1.5 million individuals in Brazil. The Gap: While > 150 genes are linked to HL, the genetic architecture in underrepresented populations like Brazil is poorly defined. The Problem: This lack of data limits diagnostic yield and the application of precision medicine.
Stella Diogo‐Cavassana, Danillo Alencar‐Coutinho, Rafaella Abreu‐Oberhuber, Maria Eduarda Paramo‐Neto, Jeanne Oiticica, Ricardo Ferreira Bento, Ana Carla Batissoco, Karina Lezirovitz   +7 more
wiley   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, EarlyView.
Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions). Speech and non‐verbal intelligence were assessed using conversation
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Sleep health of adults with cerebral palsy: A systematic review

Developmental Medicine &Child Neurology, EarlyView.
Although many people with cerebral palsy (CP) are adults, most sleep research in CP focuses on children. As poor sleep can affect pain, mood, energy, daily functioning, and quality of life we reviewed what is currently known about the sleep health of adults with CP. We searched three major research databases (MEDLINE, Embase, and CINAHL) up to February
Deepika Nagabhushan, Caleb Kim, Daniel G. Whitney, Rita Ayyangar, Angeline Bowman, Sonia Sharma, Maxwell S. Barnish, Daniel Whibley   +7 more
wiley   +1 more source