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Myotonic Dystrophy 1 (DM1) causes progressive myopathy of extremity muscles. DM1 may also affect muscles of the trunk. The aim of this study was to investigate fat infiltration and muscle size in trunk muscles...
CIC-mutant oligodendroglial tumours linked to better prognosis. We aim to investigate associations between CIC gene mutation status, MR characteristics and clinical features.
Heat stroke (HS) is a critical illness that can cause multiple organ dysfunction, including damage to the central nervous system (CNS), which can be life-threatening in severe cases. Brain lesions in patients ...
Convexal subarachnoid hemorrhage (cSAH) is characterized by isolated bleeding in one or a few adjacent sulci and has diverse etiologies and symptoms. Acute ischemic stroke co-occurring with cSAH has been infre...
Diabetic chorea appears during the course of poorly-controlled diabetes. While chorea associated with diabetes mellitus usually occurs during hyperglycemic episodes, hypoglycemia can also cause diabetic chorea...
Interferon (IFN) beta drugs have been approved for the treatment of relapsing forms of multiple sclerosis (RMS) for more than 20 years and are considered to offer a favourable benefit-risk profile. In July 201...
Multiple sclerosis (MS) is a neurological disease of the central nervous system and is associated with many psychosocial symptoms that are difficult to manage including low mood, anxiety, fatigue and pain, as ...
Mood disorder after stroke is common but drug and psychosocial treatments have been assessed with disappointing results. Preventing mood disorder from developing in the first place could be a better approach a...
Immune cells are involved in all stages of acute ischaemic stroke (AIS) and possess both neuroprotective and neurodamaging properties. It has been suggested that immune system activation after stroke may be as...
Autoimmune encephalitis (AE) is a newly recognized autoimmune disorders in which the targets are proteins or receptors involved in synaptic transmission and neuronal excitability. α-amino-3-hydroxy-5-methyl-4-...
Non-dystrophic myotonias (NDMs) are skeletal muscle disorders involving myotonia distinct from myotonic dystrophy. It has been reported that the muscle pathology is usually normal or comprises mild myopathic c...
Isolated posterior inferior cerebellar artery dissections can cause subarachnoid hemorrhages or infarctions. Surgical and endovascular treatments for hemorrhagic stroke cases and medical treatments using antit...
The neurofibromatoses (NF) are a group of genetic disorders that interfere negatively with the quality of life (QoL) and influence physical, emotional and social statuses. Studying the effects of neurofibromat...
Krabbe disease (also known as globoid cell leukodystrophy) cause by a deficiency of the enzyme β-galactocerebrosidase (galactosylceramidase, GALC). The deficiency of GALC leads to accumulation of galactosylcer...
No longitudinal, long-term, follow-up studies have explored the association between presence and severity of variations in extracranial venous anatomy, and clinical outcomes in patients with multiple sclerosis...
Clinical diagnosis of Parkinson’s disease (PD) has always lagged behind clinical symptoms. The diagnostic latency might be influenced by many factors. The diagnostic latency of Chinese people with PD has been ...
The use of vestibular rehabilitation principles in the management of gaze and postural stability impairments in people with multiple sclerosis (PwMS) has shown promise in pilot work completed in our lab and in...
In patients suffering from Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) disease severity is assessed by Medical Research Counsil (MRC) Scale or Inflammatory Neuropathy Cause and Treatment (INCAT) d...
Following spinal cord injury (SCI), family members are often called upon to undertake the caregiving role. This change in the nature of the relationship between the individuals with SCI and their families can ...
STRIVE is a multicenter, observational, open-label, single-arm study of natalizumab in anti–JC virus (JCV) seronegative patients with early relapsing-remitting multiple sclerosis (RRMS). The objective of this ...
Fabry disease is rare, and the diagnosis is often delayed. Here, we describe a case of Fabry disease resulting in vasculopathy of the central nervous system. Magnetic resonance (MR) black-blood sequence (three...
Epigenetics underlying refractory epilepsy is poorly understood. DNA methylation may affect gene expression in epilepsy patients without affecting DNA sequences. Herein, we investigated the association between...
Toxic oligomeric α-synuclein (αS; O-αS) has been suggested to play a central role in the pathogenesis of Lewy body diseases such as Parkinson’s disease (PD). Cerebrospinal fluid (CSF) levels of αS, O-αS, total...
Internal jugular vein stenosis (IJVS), characterized by a series of clinical manifestations, such as head and neck symptoms, visual and ear symptoms, as well as sleep disorder, has been receiving attention in ...
Likely duration of survival of children described as having cerebral palsy is of considerable interest to individuals with cerebral palsy, their families, carers, health professionals, health economists and in...
Idiopathic rapid eye movement sleep behavior disorder (iRBD) affects 1–2% of people over 60 years of age and presents a high risk of developing a neurodegenerative disorder from the group of synucleinopathies,...
Type 2 Diabetes in Mexico has a high prevalence, 16–87% of patients may experience peripheral neuropathy. Early detection can prevent or halt its progression. The performance of Sudoscan in detecting neuropath...
The study is intended to fill the knowledge gap about the neuropsychology and neuromotor developmental outcomes, and identify the perinatal risk factors for late preterm infants (LPIs 34~36 weeks GA) born with...
Lumbo-sacral radiculopathy (LSR) is a common musculoskeletal disorder for which patients seek medical care and referrals for advanced imaging. However, accurate diagnosis remains challenging. Neuropathic pain ...
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary arteriopathy associated with the NOTCH3 gene. Clinical manifestations include strokes, transien...
Sparganosis mansoni is a parasitic disease caused by infection with the larvae of Spirometra spp. tapeworms. Its clinical manifestations and severity depend on the migration and the location of the parasites. The...
Nutritional status is an important prognostic factor in Amyotrophic Lateral Sclerosis (ALS). We wished to study the safety, tolerability and efficacy of nutritional counseling with or without an mHealth applic...
endovascular therapy (ET) is the standard of care for anterior circulation acute ischemic stroke (AIS) caused by large vessel occlusion (LVO). The role of adjunctive intravenous thrombolysis (IVT) in these pat...
Exercise has failed to reduce falls in those with chronic stroke. A limitation of traditional exercise is that the motor responses needed to prevent a fall are not elicited (i.e. they lack processing specificity)...
Apathy is a prominent non-motor symptom in Parkinson’s disease (PD). People with apathy show a lack of emotion, passion, and motivation. Between 17 and 70% of persons with PD have apathy; the extreme heterogen...
A revised classification of cerebellar infarctions (CI) may uncover unrecognized associations with etiologic stroke subtypes. We hypothesized that obliquely oriented small cortical cerebellar infarction (SCCI)...
The aim of the study was to investigate the genetic risk factors of essential tremor (ET) in Chinese Population.
This systematic review and meta-analysis aimed to clarify the risk factors for postoperative stroke in adult patients with moyamoya disease (MMD).
Cerebral amyloid angiopathy-related inflammation (CAA-ri) is a rare clinical entity, characterized by headaches, seizures, rapidly progressive cognitive decline, behavioral changes and magnetic resonance imagi...
Post-stroke lower limb spasticity (PSLLS) has a prevalence of 28–37%. PSLLS can cause difficulty in walking and reduce quality of life (QOL). Post stroke spasticity impairs the ability to intervene to improve ...
Gall bladder cancer (GBC) is associated with abdominal pain, lump, nausea, vomiting, and jaundice due to either gall bladder mass or the involved adjacent peritoneal structures. Gall bladder cancer presenting ...
Recurrent optic neuritis (ON) was previously thought to be associated with multiple sclerosis (MS) and neuromyelitis optica spectrum disorders (NMOSD). Meningoencephalitis has recently been suggested to be a c...
It was suggested that robot-assisted gait training (RAGT) should not be routinely provided to disabled patients in place of conventional over-ground walking training (CGT). There exist several randomised contr...
Primary periodic paralysis is characterized by recurrent quadriplegia typically associated with abnormal serum potassium levels. The molecular diagnosis of primary PP previously based on Sanger sequencing of h...
Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40.
Primary central nervous system lymphoma (PCNSL) is the most prevalent brain, spinal cord, eyes, and leptomeningeal lymphoma. It is often misdiagnosed due to an unspecific presentation or unavailable biopsy and...
Missense mutations in SAMD9L gene is associated with ataxia-pancytopenia syndrome (ATXPC), OMIM#159550. Common clinical features in these patients include neurological and hematological symptoms. The phenotype an...
Cholinesterase inhibitors remain the first line therapy for people with mild to moderate Alzheimer’s disease (AD). Response is modest and difficult to predict from pre-treatment characteristics. We hypothesise...
Although the efficacy of tissue plasminogen activator (tPA) for acute ischemic stroke is well established, rates of tPA use remain low. For clinicians, advocates, and policy-makers seeking to increase tPA trea...
Wilson’s disease (WD) is an autosomal recessive disease of impaired copper metabolism. Previous study demonstrated that WD with corpus callosum abnormalities (WD-CCA) was limited to the posterior part (spleniu...
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