Results 201 to 210 of about 252,929 (281)

Dorsolateral Cervical Cord T2 Hyperintensity in KIF1C‐Related Disease (Spastic Paraplegia 58): Two Long‐Duration Cases

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake, Masao Osaki, Takashi Matsukawa, Miho Osako, Chisen Takeuchi, Hiroyuki Ishiura, Jun Mitsui, Ryo Kurokawa, Harushi Mori, Yuji Takahashi, Jun Goto, Shoji Tsuji, Tatsushi Toda   +12 more
wiley   +1 more source

Substance use disorder prevalence in Sierra Leone: a sex-disaggregated analysis using the World Health Organization equity data. [PDF]

Subst Abuse Treat Prev Policy
Osborne A.
europepmc   +1 more source

Fluid and Neuroimaging Biomarkers in Microgliopathy Colony‐Stimulating Factor‐1 Receptor‐Related Disorders

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela, Madison Reeves, Karen Jansen‐West, Judith Dunmore, Yuping Song, Audrey Strongosky, Sunil Gandhi, Gilana Pikover, Matt Blurton‐Jones, Robert C. Spitale, Erik H. Middlebrooks, Leonard Petrucelli, Mercedes Prudencio, Zbigniew K. Wszolek   +13 more
wiley   +1 more source

Maternal substance use disorder and neonatal health: epidemiologic and socioeconomic determinants in a case-control study, Shiraz, Iran. [PDF]

BMC Pregnancy Childbirth
Oboodi R, Barzegar H, Doostfatemeh M, Bahrami R, Zolfaghari S, Salehi A.   +5 more
europepmc   +1 more source

Association of Substance Use Disorders With Childhood Trauma but not African Genetic Heritage in an African American Cohort

, 2009
Francesca Ducci, Alec Roy, Pei‐Hong Shen, Qiaoping Yuan, Nicole P. Yuan, Colin A. Hodgkinson, Lynn R. Goldman, David Goldman   +7 more
openalex   +1 more source

Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Transcription factors implicated in substance use disorder, from immediate early genes to altered gene expression. [PDF]

Brain Res
Orr E, Yi J, Baldridge D.
europepmc   +1 more source

Anxiety Disorders with Comorbid Substance Use Disorders: Diagnostic and Treatment Considerations

, 2008
Sudie E. Back, Kathleen T. Brady
openalex   +2 more sources

Chronological and Spatial Distribution of Skeletal Muscle Fat Replacement in FHL1‐Related Myopathies

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives Variants in the FHL1 gene cause FHL1‐related myopathies (FHL1‐RMs), a group of neuromuscular disorders with diverse clinical presentations. This study aimed to comprehensively characterize the spatial and temporal patterns of skeletal muscle fat replacement throughout the whole body in FHL1‐RMs, to examine disease progression over ...
Rui Shimazaki, Satoru Noguchi, Hotake Takizawa, Yasushi Oya, Yuji Takahashi, Hirofumi Komaki, Hajime Arahata, Shinichiro Hayashi, Ichizo Nishino   +8 more
wiley   +1 more source

Needs and Challenges to Improve Rehabilitative Care for Parents with Substance Use Disorder - A Qualitative Study from the Expert's Perspective. [PDF]

Subst Abuse Rehabil
Hoffmann L, Stullich A, Stephan J, Gehrmann J, Richter M.   +4 more
europepmc   +1 more source