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N omenclature of genetic movement disorders: R ecommendations of the international P arkinson and movement disorder society task force
The system of assigning locus symbols to specify chromosomal regions that are associated
with a familial disorder has a number of problems when used as a reference list of …
with a familial disorder has a number of problems when used as a reference list of …
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies
T Opladen, E López-Laso… - Orphanet journal of rare …, 2020 - Springer
Background Tetrahydrobiopterin (BH 4) deficiencies comprise a group of six rare
neurometabolic disorders characterized by insufficient synthesis of the monoamine …
neurometabolic disorders characterized by insufficient synthesis of the monoamine …
Monoamine neurotransmitter disorders—clinical advances and future perspectives
The monoamine neurotransmitter disorders are important genetic syndromes that cause
disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin …
disturbances in catecholamine (dopamine, noradrenaline and adrenaline) and serotonin …
Dopa-responsive dystonia—clinical and genetic heterogeneity
S Wijemanne, J Jankovic - Nature reviews neurology, 2015 - nature.com
Dopa-responsive dystonia (DRD) encompasses a group of clinically and genetically
heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia …
heterogeneous disorders that typically manifest as limb-onset, diurnally fluctuating dystonia …
Redefining cerebral palsies as a diverse group of neurodevelopmental disorders with genetic aetiology
Cerebral palsy is a clinical descriptor covering a diverse group of permanent, non-
degenerative disorders of motor function. Around one-third of cases have now been shown …
degenerative disorders of motor function. Around one-third of cases have now been shown …
Medical treatment of dystonia
J Jankovic - Movement disorders, 2013 - Wiley Online Library
Medications such as anticholinergic drugs, dopamine modulators, baclofen, muscle
relaxants, and other pharmacologic agents have been used for a long time to treat dystonia …
relaxants, and other pharmacologic agents have been used for a long time to treat dystonia …
Genetic or other causation should not change the clinical diagnosis of cerebral palsy
AH MacLennan, S Lewis… - Journal of child …, 2019 - journals.sagepub.com
High throughput sequencing is discovering many likely causative genetic variants in
individuals with cerebral palsy. Some investigators have suggested that this changes the …
individuals with cerebral palsy. Some investigators have suggested that this changes the …
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia
Objectives The present study summarizes clinical and biochemical findings, current
treatment strategies and follow-up in patients with tetrahydrobiopterin (BH 4) deficiencies …
treatment strategies and follow-up in patients with tetrahydrobiopterin (BH 4) deficiencies …
A diagnostic approach for cerebral palsy in the genomic era
An ongoing challenge in children presenting with motor delay/impairment early in life is to
identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as …
identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as …
The genetics of dystonia: new twists in an old tale
Dystonia is a common movement disorder seen by neurologists in clinic. Genetic forms of
the disease are important to recognize clinically and also provide valuable information about …
the disease are important to recognize clinically and also provide valuable information about …