Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST [0.03%]
SPAST新发变异所致早发型和重症复杂遗传性痉挛性截瘫病例及其家族成员的研究
Afshin Saffari,Darius Ebrahimi-Fakhari
Afshin Saffari
Whole-Brain Magnetic Resonance Spectroscopy Reveals Distinct Alterations in Neurometabolic Profile in Progressive Supranuclear Palsy [0.03%]
全脑磁共振波谱成像揭示进行性核上性麻痹中神经代谢特征的改变
Martin Klietz,Nima Mahmoudi,Andrew A Maudsley et al.
Martin Klietz et al.
Background: Progressive supranuclear palsy (PSP) is an atypical Parkinsonian syndrome characterized by supranuclear gaze palsy, early postural instability, and a frontal dysexecutive syndrome. Contrary to normal brain mag...
Anna Heinzmann,Sabrina Sayah,François-Xavier Lejeune et al.
Anna Heinzmann et al.
Background: Carriers of small cytosine-adenine-guanine (CAG) repeats below 39 in the HTT gene are traditionally associated with milder Huntington's disease, but their clinical profile has not been extensively studied. ...
Spinocerebellar Ataxia Type 1 Characteristics in Patient-Derived Fibroblast and iPSC-Derived Neuronal Cultures [0.03%]
源自患者成纤维细胞和iPSC诱导的神经元培养物的脊髓小脑共济失调1型特征
Ronald A M Buijsen,Michel Hu,Maria Sáez-González et al.
Ronald A M Buijsen et al.
Background: Spinocerebellar ataxia type 1 (SCA1) is a neurodegenerative disease caused by a polyglutamine expansion in the ataxin-1 protein resulting in neuropathology including mutant ataxin-1 protein aggregation, aberra...
Early-Life and Family Risk Factors for Tic Disorder Persistence into Adulthood [0.03%]
童年及家庭因素与抽动障碍持续至成人期的关系
David Mataix-Cols,Kayoko Isomura,Gustaf Brander et al.
David Mataix-Cols et al.
Background: Many children with tic disorders outgrow their tics, but little is known about the proportion of individuals who will continue to require specialist services in adulthood and which variables are associated wit...
A Double-Blind, Randomized, Placebo-Controlled Trial of Ursodeoxycholic Acid (UDCA) in Parkinson's Disease [0.03%]
双盲、随机、安慰剂对照的熊去氧胆酸(UDCA)治疗帕金森病临床试验
Thomas Payne,Matthew Appleby,Ellen Buckley et al.
Thomas Payne et al.
Background: Rescue of mitochondrial function is a promising neuroprotective strategy for Parkinson's disease (PD). Ursodeoxycholic acid (UDCA) has shown considerable promise as a mitochondrial rescue agent across a range ...
Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family [0.03%]
震颤性共济失调：FGF14和RFC1重复序列的扩张在智利一个家庭的患者及健康成员中的研究
Paula Saffie Awad,Katja Lohmann,Yasmin Hirmas et al.
Paula Saffie Awad et al.
The Pain in Dystonia Scale (PIDS)-Development and Validation in Cervical Dystonia [0.03%]
扭转痉挛疼痛量表(PIDS)在颈源性病例中的研制和验证
Veronica Bruno,Beatrice Achen,Francesca Morgante et al.
Veronica Bruno et al.
Background: A better understanding of pain in adult-onset idiopathic dystonia (AOID) is needed to implement effective therapeutic strategies. Objective: ...
Subthalamic Nucleus Activity during Cognitive Load and Gait Dysfunction in Parkinson's Disease [0.03%]
帕金森病患者在认知负荷和步态障碍期间丘脑下核的活动
Matthew J Georgiades,James M Shine,Moran Gilat et al.
Matthew J Georgiades et al.
Background: Gait freezing is a common, disabling symptom of Parkinson's disease characterized by sudden motor arrest during walking. Adaptive deep brain stimulation devices that detect freezing and deliver real-time, symp...
Patterns of TDP-43 Deposition in Brains with LRRK2 G2019S Mutations [0.03%]
LRRK2(G2019S)突变脑中TDP-43蛋白沉积模式分析
Julian Agin-Liebes,Richard A Hickman,Jean Paul Vonsattel et al.
Julian Agin-Liebes et al.
Objective: To assess for TDP-43 deposits in brains with and without a LRRK2 G2019S mutation. Background: LRRK2 G2019S mutations have be...