منابع مشابه
Transgenic expression of neuronal dystonin isoform 2 partially rescues the disease phenotype of the dystonia musculorum mouse model of hereditary sensory autonomic neuropathy VI.
A newly identified lethal form of hereditary sensory and autonomic neuropathy (HSAN), designated HSAN-VI, is caused by a homozygous mutation in the bullous pemphigoid antigen 1 (BPAG1)/dystonin gene (DST). The HSAN-VI mutation impacts all major neuronal BPAG1/dystonin protein isoforms: dystonin-a1, -a2 and -a3. Homozygous mutations in the murine Dst gene cause a severe sensory neuropathy termed...
متن کاملVi-1 Vi. Suffix Dictionaries
Cosine Numeric Abstract, Cosine Logical Abstract, Overlap Logical Overlap Logical Abstract, Cosine Numeric Cosine Numeric Text, Cosine Numeric Text, Cosine Logical Text, Overlap Logical Abstract, Cosine Numeric Cosine Numeric Abstract, Cosine Logical Cosine Logical Title, Cosine Numeric EVALUATION MEASURE Normed. Recall Normed. Precision Normed. Recall Normed. Precision Normed. Recall Normed. P...
متن کامل[Clinical practice of hereditary motor neuropathy (HMN) and hereditary sensory and autonomic neuropathy (HSAN)].
Inherited neuropathy is a genetically and clinically heterogeneous group of neuropathies, the main category becomes Charcot-Marie-Tooth neuropathy (CMT), also known as hereditary motor and sensory neuropathy (HMSN), distal hereditary motor neuropathy (dHMN), and hereditary sensory autonomic neuropathy (HSAN). At least 80 genes have been associated with CMT, HMN or HSAN, a precise molecular diag...
متن کاملClinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I).
Hereditary sensory and autonomic neuropathy type I (HSAN I) is the most frequent type of hereditary neuropathy that primarily affects sensory neurons. The genetic locus for HSAN I has been mapped to chromosome 9q22.1-22.3 and recently the gene was identified as SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1. Sequencing in HSAN I families have previously identified mutat...
متن کاملPublication VI
In many domains data items are represented by vectors of counts; count data arises, for example, in bioinformatics or analysis of text documents represented as word count vectors. However, often the amount of data available from an interesting data source is too small to model the data source well. When several data sets are available from related sources, exploiting their similarities by trans...
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ژورنال
عنوان ژورنال: Neurology Genetics
سال: 2020
ISSN: 2376-7839
DOI: 10.1212/nxg.0000000000000389