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OpenAlex topic

Hereditary Neurological Disorders

This page lists works and academicians tagged with an OpenAlex topic. It is not a YÖKSİS primary or secondary field.

OpenAlex 1,287 works 21 author topics

Works

1,287 works

  1. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 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…

  2. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 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…

  3. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 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…

  4. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 97.0%

    No abstract yet.

  5. YÖKSİS SJR Q1 JCR Q2 OpenAlex top 10% OpenAlex 98.8%

    A group of clinicians from across Europe experienced in the use of botulinum toxin type A for the treatment of spasticity following acquired brain injury gathered to develop a consensus statement on best practice in managing adults with spasticity. This consensus table summarizes the current published data, which was…

  6. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    The botulinum neurotoxins (BoNTs) are category A biothreat agents which have been the focus of intensive efforts to develop vaccines and antibody-based prophylaxis and treatment. Such approaches must take into account the extensive BoNT sequence variability; the seven BoNT serotypes differ by up to 70% at the amino ac…

  7. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 98.2%

    The botulinum neurotoxins (BoNTs) are category A biothreat agents which have been the focus of intensive efforts to develop vaccines and antibody-based prophylaxis and treatment. Such approaches must take into account the extensive BoNT sequence variability; the seven BoNT serotypes differ by up to 70% at the amino ac…

  8. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 94.8%

    No abstract yet.

  9. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 96.5%

    Hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders characterized by axonal atrophy and degeneration, exclusively or predominantly affecting the sensory and autonomic neurons. So far, disease-associated mutations have been identified in seven genes: two genes for…

  10. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 10% OpenAlex 92.3%

    BACKGROUND: Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) were recently shown to be responsible for autosomal recessive (AR) demyelinating Charcot-Marie-Tooth disease (CMT) type 4A (CMT4A) as well as AR axonal CMT with vocal cord paralysis. METHODS: The coding region of GDAP1 w…

  11. YÖKSİS SJR Q1 JCR Q1 OpenAlex top 1% OpenAlex 99.1%

    No abstract yet.

  12. OpenAlex top 1% OpenAlex 99.1%

    No abstract yet.

Academicians

21 academicians