about
Hereditary sensory neuropathy type IMutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type IHeterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndromeTranscriptional regulator PRDM12 is essential for human pain perceptionDNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2CFibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skinRare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal PolyneuropathiesCryptic Amyloidogenic Elements in the 3' UTRs of Neurofilament Genes Trigger Axonal NeuropathyMutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegiaDominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathiesMutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy.SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth diseaseGenetic spectrum of hereditary neuropathies with onset in the first year of lifeExclusion of serine palmitoyltransferase long chain base subunit 2 (SPTLC2) as a common cause for hereditary sensory neuropathy.Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.Autosomal dominant inherited neuropathies with prominent sensory loss and mutilations: a review.Motor neuron, nerve, and neuromuscular junction disease.TRPV4 mutations in children with congenital distal spinal muscular atrophy.Exome sequencing identifies a REEP1 mutation involved in distal hereditary motor neuropathy type V.Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Hereditary sensory neuropathies.Phenotypes of the N88S Berardinelli-Seip congenital lipodystrophy 2 mutation.Human Rab7 mutation mimics features of Charcot-Marie-Tooth neuropathy type 2B in Drosophila.Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patientsFurther evidence for genetic heterogeneity of distal HMN type V, CMT2 with predominant hand involvement and Silver syndromeMutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.Molecular genetics of hereditary sensory neuropathies.Recent advances in hereditary sensory and autonomic neuropathies.Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotypeMORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance.Hereditary sensory and autonomic neuropathies.Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
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description
hulumtuese
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researcher
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հետազոտող
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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type
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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Michaela Auer-Grumbach
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