听力与言语-语言病理学

行为科学

医学伦理学

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  • Serum neurofilament levels and patient-reported outcomes in multiple sclerosis.

    abstract:OBJECTIVE:Serum neurofilament light (sNfL) is a promising new biomarker in multiple sclerosis (MS). We explored the relationship between sNfL and health outcomes and resource use in MS patients. METHODS:MS patients with serum samples and health-outcome measurements collected longitudinally between 2011 and 2016 were a...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51305

    authors: Galetta K,Deshpande C,Healy BC,Glanz B,Ziehn M,Saxena S,Paul A,Saleh F,Collins M,Gaitan-Walsh P,Castro-Mendoza P,Weiner HL,Chitnis T

    更新日期:2021-01-25 00:00:00

  • Isradipine plasma pharmacokinetics and exposure-response in early Parkinson's disease.

    abstract:OBJECTIVES:Isradipine is a dihydropyridine calcium channel inhibitor that has demonstrated concentration-dependent neuroprotective effects in animal models of Parkinson's disease (PD) but failed to show efficacy in a phase 3 clinical trial. The objectives of this study were to model the plasma pharmacokinetics of israd...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51300

    authors: Venuto CS,Yang L,Javidnia M,Oakes D,James Surmeier D,Simuni T

    更新日期:2021-01-18 00:00:00

  • Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.

    abstract::Biallelic mutations in the sorbitol dehydrogenase (SORD) encoding gene were recently identified as a common genetic cause in autosomal-recessive CMT patients. Here, we investigated the clinical, genetic, and electrophysiological characteristics of three CMT patients with biallelic SORD mutations from a Chinese cohort....

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51268

    authors: Yuan RY,Ye ZL,Zhang XR,Xu LQ,He J

    更新日期:2021-01-01 00:00:00

  • Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.

    abstract::Refractory epilepsy and encephalopathy are frequently encountered in patients with inborn errors of metabolism. We report a case of an 8-year-old girl with history of developmental delay, autism and intractable epilepsy that was found to have a pathogenic variant in CAD. We briefly review the biochemical pathway of CA...

    journal_title:Annals of clinical and translational neurology

    pub_type:

    doi:10.1002/acn3.51257

    authors: Frederick A,Sherer K,Nguyen L,Ali S,Garg A,Haas R,Sahagian M,Bui J

    更新日期:2021-01-01 00:00:00

  • Obesity and the risk of Multiple Sclerosis. The role of Leptin.

    abstract:OBJECTIVE:To investigate the effects of leptin on different T-cell populations, in order to gain more insight into the link between leptin and obesity. METHODS:Three hundred and nine RRMS patients and 322 controls participated in a cross-sectional survey, to confirm whether excess weight/obesity in adolescence or earl...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51291

    authors: Marrodan M,Farez MF,Balbuena Aguirre ME,Correale J

    更新日期:2020-12-28 00:00:00

  • The case of a 61-year-old man with unusual headaches.

    abstract::A 61-year-old man with past medical history significant for prediabetes, hyperlipidemia and high-grade prostate intraepithelial neoplasia presents with headaches for one month. Imaging of his brain reveals hydrocephalus and spine imaging reveals a cord lesion. These findings are discussed further in the case. ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51179

    authors: Yu M,Brooker S,Priyadarshini S

    更新日期:2020-12-18 00:00:00

  • Association of genetic variants in migraineurs with and without restless legs syndrome.

    abstract:OBJECTIVE:Several single-nucleotide polymorphisms (SNPs) are associated with restless legs syndrome (RLS). This study investigated whether or not additional SNP variants increase the risk of RLS in migraineurs and in migraine with aura (MA) and migraine without aura (MoA) subgroups. METHODS:Migraineurs with and withou...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51186

    authors: Lin GY,Lin YK,Liang CS,Lee JT,Tsai CL,Hung KS,Luo WJ,Tsai CK,Hsu YW,Ho TH,Yang FC

    更新日期:2020-10-01 00:00:00

  • Association of serum Apolipoprotein B with cerebrospinal fluid biomarkers of Alzheimer's pathology.

    abstract:OBJECTIVE:To examine whether apolipoprotein B (ApoB), apolipoprotein A-1 (ApoA1), or their ratio (ApoB/A1) were associated with early changes in cerebrospinal fluid (CSF) biomarkers of Alzheimer's disease (AD) pathology in elderly adults with subjective cognitive decline (SCD). METHODS:This study included 507 objectiv...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51153

    authors: Hu H,Tan L,Bi YL,Xu W,Tan L,Shen XN,Hou XH,Ma YH,Dong Q,Yu JT

    更新日期:2020-10-01 00:00:00

  • Baseline neuropsychological profiles in prion disease predict survival time.

    abstract:OBJECTIVE:Few studies have captured the neuropsychological profile of sporadic Creutzfeldt-Jakob disease (sCJD) with neuropsychological testing, and little is known about cognitive predictors of survival. We characterized baseline neuropsychological performance in sCJD and investigated associations with survival. METH...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51115

    authors: Sundaram SE,Staffaroni AM,Walker NC,Casaletto KB,Casey M,Golubjatnikov A,Metcalf S,O'Leary K,Wong K,Benisano K,Forner S,Gonzalez Catalan M,Allen IE,Rosen HJ,Kramer JH,Geschwind MD

    更新日期:2020-09-01 00:00:00

  • Severe neurological crisis in adult patients with Tyrosinemia type 1.

    abstract::We report six adult patients with Tyrosinaemia type 1 (HT-1) who presented with recurrent porphyria-like neurological crises after discontinuation/interruption of 2-(2-nitro-4-trifluoro-methylbenzyol)-1,3 cyclohexanedione (NTBC) treatment. The crises were life-threatening for some of the patients, with respiratory mus...

    journal_title:Annals of clinical and translational neurology

    pub_type:

    doi:10.1002/acn3.51160

    authors: Dawson C,Ramachandran R,Safdar S,Murphy E,Swayne O,Katz J,Newsome PN,Geberhiwot T

    更新日期:2020-09-01 00:00:00

  • Cognitive reserve and midlife vascular risk: Cognitive and clinical outcomes.

    abstract:OBJECTIVE:Examine whether cognitive reserve moderates the association of 1) vascular risk factors and 2) white matter hyperintensity burden with risk of clinical progression and longitudinal cognitive decline. METHODS:BIOCARD Study participants were cognitively normal and primarily middle-aged (M = 57 years) at baseli...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51120

    authors: Soldan A,Pettigrew C,Zhu Y,Wang MC,Gottesman RF,DeCarli C,Albert M,BIOCARD Research Team.

    更新日期:2020-08-01 00:00:00

  • Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.

    abstract::FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS). METHODS:We investigated the disease molecular bases in a child with PPS and brain iron accumulation. RESULTS:A novel homozygous c.368C>G (p.S123*) FBXO7...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51095

    authors: Correa-Vela M,Lupo V,Montpeyó M,Sancho P,Marcé-Grau A,Hernández-Vara J,Darling A,Jenkins A,Fernández-Rodríguez S,Tello C,Ramírez-Jiménez L,Pérez B,Sánchez-Montáñez Á,Macaya A,Sobrido MJ,Martinez-Vicente M,Pérez-Dueñas B,

    更新日期:2020-08-01 00:00:00

  • CSF chitinases before and after symptom onset in amyotrophic lateral sclerosis.

    abstract:OBJECTIVE:To evaluate the CSF levels of chitinase proteins during the presymptomatic and early symptomatic phases of amyotrophic lateral sclerosis (ALS). METHODS:CSF samples were obtained from 16 controls, 55 individuals at-risk for ALS (including 18 carrying a mutation in C9ORF72, 33 in SOD1), 12 ALS patients, and 7 ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51114

    authors: Gray E,Thompson AG,Wuu J,Pelt J,Talbot K,Benatar M,Turner MR

    更新日期:2020-08-01 00:00:00

  • Using urine to diagnose large-scale mtDNA deletions in adult patients.

    abstract:OBJECTIVE:The aim of this study was to evaluate if urinary sediment cells offered a robust alternative to muscle biopsy for the diagnosis of single mtDNA deletions. METHODS:Eleven adult patients with progressive external ophthalmoplegia and a known single mtDNA deletion were investigated. Urinary sediment cells were u...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51119

    authors: Varhaug KN,Nido GS,de Coo I,Isohanni P,Suomalainen A,Tzoulis C,Knappskog P,Bindoff LA

    更新日期:2020-08-01 00:00:00

  • Accuracy of FGF-21 and GDF-15 for the diagnosis of mitochondrial disorders: A meta-analysis.

    abstract:OBJECTIVE:Given their diverse phenotypes, mitochondrial diseases (MDs) are often difficult to diagnose. Fibroblast growth factor 21 (FGF-21) and growth differentiation factor 15 (GDF-15) represent promising biomarkers for MD diagnosis. Herein we conducted a meta-analysis to compare their diagnostic accuracy for MDs. M...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51104

    authors: Lin Y,Ji K,Ma X,Liu S,Li W,Zhao Y,Yan C

    更新日期:2020-07-01 00:00:00

  • Temporal association of sNfL and gad-enhancing lesions in multiple sclerosis.

    abstract:OBJECTIVE:Multiple sclerosis (MS) is an autoimmune demyelinating disorder, which is characterized by relapses and remissions. Serum neurofilament light chain (sNfL) is an emerging biomarker of disease activity but its clinical use is still limited. In this study, we aim to characterize the temporal association between ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51060

    authors: Rosso M,Gonzalez CT,Healy BC,Saxena S,Paul A,Bjornevik K,Kuhle J,Benkert P,Leppert D,Guttmann C,Bakshi R,Weiner HL,Chitnis T

    更新日期:2020-06-01 00:00:00

  • Urate is closely linked to white matter integrity in multiple system atrophy.

    abstract:OBJECTIVE:We aimed to investigate the association of the serum urate level with cortical thickness and white matter integrity in multiple system atrophy (MSA). METHODS:We recruited 75 MSA patients and 42 controls who underwent brain MRI and measured serum urate level at baseline. Using cortical thickness and tract-bas...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51073

    authors: Yoo HS,Chung SJ,Lee YH,Ye BS,Sohn YH,Kwon H,Lee PH

    更新日期:2020-06-01 00:00:00

  • A familial t(4;8) translocation segregates with epilepsy and migraine with aura.

    abstract::Three relatives carrying a t(4;8)(p15.2;p23.2) translocation had juvenile myoclonic epilepsy, self-limited photosensitive occipital epilepsy and migraine with aura. The t(4;8) translocation interrupted the coding sequence of CSMD1 gene and occurred immediately to the 3'UTR of STIM2 gene. STIM2 was overexpressed in the...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51040

    authors: Crippa M,Malatesta P,Bonati MT,Trapasso F,Fortunato F,Annesi G,Larizza L,Labate A,Finelli P,Perrotti N,Gambardella A

    更新日期:2020-05-01 00:00:00

  • VRK1 (Y213H) homozygous mutant impairs Cajal bodies in a hereditary case of distal motor neuropathy.

    abstract:BACKGROUND:Distal motor neuropathies with a genetic origin have a heterogeneous clinical presentation with overlapping features affecting distal nerves and including spinal muscular atrophies and amyotrophic lateral sclerosis. This indicates that their genetic background is heterogeneous. PATIENT AND METHODS:In this w...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51050

    authors: Marcos AT,Martín-Doncel E,Morejón-García P,Marcos-Alcalde I,Gómez-Puertas P,Segura-Puimedon M,Armengol L,Navarro-Pando JM,Lazo PA

    更新日期:2020-05-01 00:00:00

  • Heritability of alpha and sensorimotor network changes in temporal lobe epilepsy.

    abstract:OBJECTIVE:Electroencephalography (EEG) features in the alpha band have been shown to differ between people with epilepsy and healthy controls. Here, in a group of patients with mesial temporal lobe epilepsy (mTLE), we seek to confirm these EEG features, and using simultaneous functional magnetic resonance imaging, we i...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51032

    authors: Yaakub SN,Tangwiriyasakul C,Abela E,Koutroumanidis M,Elwes RDC,Barker GJ,Richardson MP

    更新日期:2020-05-01 00:00:00

  • Analysis of factors associated with brittle response in patients with Parkinson's disease.

    abstract:INTRODUCTION:The brittle response (BR) in patients with Parkinson's disease (PD) refers to a special type of levodopa-induced dyskinesia (LID). This study aimed to describe the clinical characteristics of BR patients and to analyze the associated risk factors. METHODS:A retrospective study was conducted to analyze the...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51028

    authors: Yan Y,Li Y,Liu X,Zhang L,Wang L,Chang Y

    更新日期:2020-05-01 00:00:00

  • A novel de novo RNF216 mutation associated with autosomal recessive Huntington-like disorder.

    abstract::Mutations in RNF216 have been found to be associated with autosomal recessive Huntington-like disorder. Here, we describe a patient with Huntington-like disorder caused by a novel de novo RNF216 mutation. The patient started to have choreatic movements of both hands, slowly progressing to head, face, and four extremit...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51047

    authors: Chen KL,Zhao GX,Wang H,Wei L,Huang YY,Chen SD,Lin BY,Dong Q,Cui M,Yu JT

    更新日期:2020-05-01 00:00:00

  • Gut microbiome variation is associated to Multiple Sclerosis phenotypic subtypes.

    abstract:OBJECTIVE:Multiple sclerosis (MS) is a heterogenous, inflammatory disease of the central nervous system. Microbiota alterations in MS versus healthy controls (HC) are observed, but results are inconsistent. We studied diversity, enterotypes, and specific gut microbial taxa variation between MS and HC, and between MS su...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51004

    authors: Reynders T,Devolder L,Valles-Colomer M,Van Remoortel A,Joossens M,De Keyser J,Nagels G,D'hooghe M,Raes J

    更新日期:2020-04-01 00:00:00

  • Repeat expansion scanning of the NOTCH2NLC gene in patients with multiple system atrophy.

    abstract:OBJECTIVE:Trinucleotide GGC repeat expansion in the 5'UTR of the NOTCH2NLC gene has been recognized as the pathogenesis of neuronal intranuclear inclusion disease (NIID). Previous studies have described that some NIID patients showed clinical and pathological similarities with multiple system atrophy (MSA). This study ...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51021

    authors: Fang P,Yu Y,Yao S,Chen S,Zhu M,Chen Y,Zou K,Wang L,Wang H,Xin L,Hong T,Hong D

    更新日期:2020-04-01 00:00:00

  • Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.

    abstract:OBJECTIVES:To investigate the clinical, electrophysiological, neuroimaging characteristics and genetic features of SPG5 in Taiwan. METHODS:Mutational analysis of the coding regions of CYP7B1 was performed by utilizing targeted resequencing analysis of the 187 unrelated Taiwanese HSP patients. The diagnosis of SPG5 was...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51019

    authors: Chou CT,Soong BW,Lin KP,Tsai YS,Jih KY,Liao YC,Lee YC

    更新日期:2020-04-01 00:00:00

  • Optically pumped magnetoencephalography in epilepsy.

    abstract::We demonstrate the first use of Optically Pumped Magnetoencephalography (OP-MEG) in an epilepsy patient with unrestricted head movement. Current clinical MEG uses a traditional SQUID system, where sensors are cryogenically cooled and housed in a helmet in which the patient's head is fixed. Here, we use a different typ...

    journal_title:Annals of clinical and translational neurology

    pub_type:

    doi:10.1002/acn3.50995

    authors: Vivekananda U,Mellor S,Tierney TM,Holmes N,Boto E,Leggett J,Roberts G,Hill RM,Litvak V,Brookes MJ,Bowtell R,Barnes GR,Walker MC

    更新日期:2020-03-01 00:00:00

  • Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience.

    abstract:OBJECTIVE:To develop, test, and iterate a comprehensive neuromuscular targeted gene panel in a national referral center. METHODS:We designed two iterations of a comprehensive targeted gene panel for neuromuscular disorders. Version 1 included 336 genes, which was increased to 464 genes in Version 2. Both panels used T...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.51002

    authors: Beecroft SJ,Yau KS,Allcock RJN,Mina K,Gooding R,Faiz F,Atkinson VJ,Wise C,Sivadorai P,Trajanoski D,Kresoje N,Ong R,Duff RM,Cabrera-Serrano M,Nowak KJ,Pachter N,Ravenscroft G,Lamont PJ,Davis MR,Laing NG

    更新日期:2020-03-01 00:00:00

  • Radiprodil, a NR2B negative allosteric modulator, from bench to bedside in infantile spasm syndrome.

    abstract:OBJECTIVE:Infantile spasm syndrome (ISS) is an epileptic encephalopathy without established treatment after the failure to standard of care based on steroids and vigabatrin. Converging lines of evidence indicating a role of NR2B subunits of the N-methyl-D-aspartate (NMDA) receptor on the onset of spams in ISS patients,...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50998

    authors: Auvin S,Dozières-Puyravel B,Avbersek A,Sciberras D,Collier J,Leclercq K,Mares P,Kaminski RM,Muglia P

    更新日期:2020-03-01 00:00:00

  • New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.

    abstract:OBJECTIVE:To describe the clinical and genetic features of two patients with different phenotypes due to various Dynactin 1 (DCTN1) gene mutations and further explore the phenotype-genotype relationship. METHODS:Patient 1 is a 23-year-old man with congenital foot deformity and life-long distal muscle weakness and atro...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50985

    authors: Tian WT,Liu LH,Zhou HY,Zhang C,Zhan FX,Zhu ZY,Chen SD,Luan XH,Cao L

    更新日期:2020-02-01 00:00:00

  • Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.

    abstract:OBJECTIVE:Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism. Here, we used magnetoencephalography (MEG) to characterize the main determinants o...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50966

    authors: Naeije G,Wens V,Coquelet N,Sjøgård M,Goldman S,Pandolfo M,De Tiège XP

    更新日期:2020-01-01 00:00:00

  • Leukocyte telomere length in patients with myotonic dystrophy type I: a pilot study.

    abstract::Myotonic dystrophy type I (DM1) is an autosomal dominant disease of which clinical manifestations resemble premature aging. We evaluated the contribution of telomere length in pathogenesis in 361 DM1 patients (12 with serial measurements) and 223 unaffected relative controls using qPCR assay. While no differences in b...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50954

    authors: Wang Y,Best A,Fernández-Torrón R,Alsaggaf R,Garcia-Puga M,Dagnall CL,Hicks B,Thompson M,Matheu Fernandez A,Zulaica Ijurco M,Greene MH,Lopez de Munain A,Gadalla SM

    更新日期:2020-01-01 00:00:00

  • Severe white matter damage in SHANK3 deficiency: a human and translational study.

    abstract:OBJECTIVE:Heterozygous SHANK3 mutations or partial deletions of the long arm of chromosome 22, also known as Phelan-McDermid syndrome, result in a syndromic form of the autism spectrum as well as in global developmental delay, intellectual disability, and several neuropsychiatric comorbidities. The exact pathophysiolog...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50959

    authors: Jesse S,Müller HP,Schoen M,Asoglu H,Bockmann J,Huppertz HJ,Rasche V,Ludolph AC,Boeckers TM,Kassubek J

    更新日期:2020-01-01 00:00:00

  • Plasma urate concentrations and possible REM sleep behavior disorder.

    abstract:OBJECTIVE:To examine how urate concentrations are related to the risk of having possible REM sleep behavior disorder (pRBD) in a community-based cohort. METHODS:The study included 12,923 Chinese adults of the Kailuan Study, free of Parkinson disease (PD) and dementia. Plasma urate concentrations were measured in 2006,...

    journal_title:Annals of clinical and translational neurology

    pub_type: 临床试验,杂志文章

    doi:10.1002/acn3.50929

    authors: Shen Y,Li J,Schwarzschild M,Pavlova M,He S,Ascherio A,Wu S,Cui L,Gao X

    更新日期:2019-12-01 00:00:00

  • Motor neuron diseases caused by a novel VRK1 variant - A genotype/phenotype study.

    abstract:BACKGROUND:Motor neuron disorders involving upper and lower neurons are a genetically and clinically heterogenous group of rare neuromuscular disorders with overlap among spinal muscular atrophies (SMAs) and amyotrophic lateral sclerosis (ALS). Classical SMA caused by recessive mutations in SMN1 is one of the most comm...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50912

    authors: Sedghi M,Moslemi AR,Olive M,Etemadifar M,Ansari B,Nasiri J,Emrahi L,Mianesaz HR,Laing NG,Tajsharghi H

    更新日期:2019-11-01 00:00:00

  • De novo NSF mutations cause early infantile epileptic encephalopathy.

    abstract::N-ethylmaleimide-sensitive factor (NSF) plays a critical role in intracellular vesicle transport, which is essential for neurotransmitter release. Herein, we, for the first time, document human monogenic disease phenotype of de novo pathogenic variants in NSF, that is, epileptic encephalopathy of early infantile onset...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50917

    authors: Suzuki H,Yoshida T,Morisada N,Uehara T,Kosaki K,Sato K,Matsubara K,Takano-Shimizu T,Takenouchi T

    更新日期:2019-11-01 00:00:00

  • Cerebellar connectivity in Parkinson's disease with levodopa-induced dyskinesia.

    abstract:OBJECTIVE:The precise pathogenesis or neural correlates underlying levodopa-induced dyskinesia (LID) remains poorly understood. There is growing evidence of the involvement of the cerebellum in Parkinson's disease (PD). The present study evaluated the role of motor cerebellar connectivity in determining vulnerability t...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50918

    authors: Yoo HS,Choi YH,Chung SJ,Lee YH,Ye BS,Sohn YH,Lee JM,Lee PH

    更新日期:2019-11-01 00:00:00

  • Rescue levodopa-carbidopa intestinal gel (LCIG) therapy in Parkinson's disease patients with suboptimal response to deep brain stimulation.

    abstract:OBJECTIVE:To evaluate the effectiveness of levodopa-carbidopa intestinal gel (LCIG) as an add-on rescue therapy following deep brain stimulation (DBS) for treatment of motor fluctuations. BACKGROUND:Both DBS and LCIG are FDA-approved therapies for treatment of motor fluctuations in advanced PD. Few studies have examin...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50889

    authors: Elkouzi A,Ramirez-Zamora A,Zeilman P,Barabas M,Eisinger RS,Malaty IA,Okun MS,Almeida L

    更新日期:2019-10-01 00:00:00

  • Biomarkers predictive value for early diagnosis of Stroke-Associated Pneumonia.

    abstract::To confirm the diagnostic accuracy of candidate biomarkers in stroke-associated pneumonia (SAP), we prospectively enrolled ischemic stroke patients with NIHSS ≥ 10 on admission from March-2016 to August-2017. Blood samples were collected at baseline, 24 and 48 h after stroke onset. Biomarkers (MR-proADM, suPAR, SAA) w...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50849

    authors: Zapata-Arriaza E,Mancha F,Bustamante A,Moniche F,Pardo-Galiana B,Serrano-Gotarredona P,Navarro-Herrero S,Pallisa E,Faura J,Vega-Salvatierra Á,Penalba A,Escudero-Martínez I,Ramos-Herrero VD,Azurmendi L,Charles Sanchez J,Mont

    更新日期:2019-09-01 00:00:00

  • Neural networks associated with body composition in frontotemporal dementia.

    abstract:BACKGROUND:Frontotemporal dementia (FTD) is associated with complex changes in eating behavior and metabolism, which potentially affect disease pathogenesis and survival. It is currently not known if body composition changes and changes in fat deposition also exist in FTD, the relationship of these changes in eating be...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50869

    authors: Ahmed RM,Landin-Romero R,Liang CT,Keogh JM,Henning E,Strikwerda-Brown C,Devenney EM,Hodges JR,Kiernan MC,Farooqi IS,Piguet O

    更新日期:2019-09-01 00:00:00

  • Novel mutations in DNA2 associated with myopathy and mtDNA instability.

    abstract::The maintenance of mitochondrial DNA (mtDNA) relies on proteins encoded by nuclear genes. Mutations in their coding sequences result in heterogenous clinical presentations featuring mtDNA instability in affected tissues. DNA2 is a multi-catalytic protein involved in the removal of single strand DNA during mtDNA replic...

    journal_title:Annals of clinical and translational neurology

    pub_type: 杂志文章

    doi:10.1002/acn3.50888

    authors: Ronchi D,Liu C,Caporali L,Piga D,Li H,Tagliavini F,Valentino ML,Ferrò MT,Bini P,Zheng L,Carelli V,Shen B,Comi GP

    更新日期:2019-09-01 00:00:00

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