OpenAlex 663 eser 8 yazar konusu
Çalışmalar
663 eser
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YÖKSİS
SJR Q1
JCR Q1
OpenAlex üst %1
OpenAlex 100.0%
Özet henüz yok.
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders 2014YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.9%
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By usi…
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders 2014YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.9%
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By usi…
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Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders 2014YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %1 OpenAlex 99.9%
Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood, only a fraction of cases can receive a genetic diagnosis, and a global view of HSP is lacking. By usi…
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YÖKSİS
SJR Q1
JCR Q1
OpenAlex üst %1
OpenAlex 99.8%
Özet henüz yok.
-
OpenAlex üst %1
OpenAlex 99.8%
Although over 90 independent risk variants have been identified for Parkinson's disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson's disease with 49,049 cases, 18,785 proxy cases and…
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YÖKSİS
SJR Q1
JCR Q1
OpenAlex üst %10
OpenAlex 98.9%
Neurodegeneration with brain iron accumulation encompasses a heterogeneous group of rare neurodegenerative disorders that are characterized by iron accumulation in the brain. Severe generalized dystonia is frequently a prominent symptom and can be very disabling, causing gait impairment, difficulty with speech and swa…
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YÖKSİS
SJR Q1
JCR Q1
OpenAlex üst %1
OpenAlex 99.8%
Özet henüz yok.
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YÖKSİS
SJR Q1
JCR Q1
OpenAlex üst %10
OpenAlex 96.5%
Two patients with the syndrome of progressive aphasia without evidence of generalized dementia underwent postmortem neuropathological examinations. In both patients, characteristic changes of Alzheimer's disease, Pick's disease, or Creutzfeldt-Jakob disease were absent. Both patients showed a focal spongiform change i…
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OpenAlex üst %10
OpenAlex 95.2%
Özet henüz yok.
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Mitochondrial serine protease HTRA2 p G399S in a kindred with essential tremor and Parkinson disease 2014YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 98.1%
Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kind…
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Mitochondrial serine protease HTRA2 p.G399S in a kindred with essential tremor and Parkinson disease 2014YÖKSİS SJR Q1 JCR Q1 OpenAlex üst %10 OpenAlex 98.1%
Essential tremor is one of the most frequent movement disorders of humans and can be associated with substantial disability. Some but not all persons with essential tremor develop signs of Parkinson disease, and the relationship between the conditions has not been clear. In a six-generation consanguineous Turkish kind…
Akademisyenler
8 akademisyen