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MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Proximal Charcot-Marie-Tooth Syndrome with Duplication on Chromosome 17p11.2.
- Published in:
- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 469, doi. 10.1111/j.1749-6632.1999.tb08613.x
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- Publication type:
- Article
Diagnosis and treatment of cardiac amyloidosis: an interdisciplinary consensus statement.
- Published in:
- Wiener Klinische Wochenschrift, 2020, v. 132, n. 23/24, p. 742, doi. 10.1007/s00508-020-01781-z
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- Publication type:
- Article
Refinement of the "Silver syndrome locus" on chromosome 11q12-q14 in four families and exclusion of eight candidate genes.
- Published in:
- Human Genetics, 2003, v. 114, n. 1, p. 99, doi. 10.1007/s00439-003-1021-6
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- Publication type:
- Article
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.
- Published in:
- Journal of the Peripheral Nervous System, 2015, v. 20, n. 1, p. 52, doi. 10.1111/jns.12106
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- Publication type:
- Article
Novel INF2 mutation p. L77P in a family with glomerulopathy and Charcot-Marie-Tooth neuropathy.
- Published in:
- 2013
- By:
- Publication type:
- Report
Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 117, doi. 10.1007/s10048-019-00576-3
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- Publication type:
- Article
TRPV4 mutations in children with congenital distal spinal muscular atrophy.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 195, doi. 10.1007/s10048-012-0328-7
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- Publication type:
- Article
A high-throughput resequencing microarray for autosomal dominant spastic paraplegia genes.
- Published in:
- Neurogenetics, 2012, v. 13, n. 3, p. 215, doi. 10.1007/s10048-012-0329-6
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- Publication type:
- Article
Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia.
- Published in:
- Neurogenetics, 2009, v. 10, n. 2, p. 97, doi. 10.1007/s10048-008-0158-9
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- Publication type:
- Article
Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.
- Published in:
- Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038
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- Publication type:
- Article
Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.
- Published in:
- Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038
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- Publication type:
- Article
FAHN/SPG35: a narrow phenotypic spectrum across disease classifications.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
- Published in:
- Molecular Neurobiology, 2017, v. 54, n. 9, p. 7212, doi. 10.1007/s12035-016-0242-3
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- Publication type:
- Article
Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1154, doi. 10.1038/ejhg.2009.29
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- Publication type:
- Article
Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception.
- Published in:
- Nature Genetics, 2015, v. 47, n. 8, p. 962, doi. 10.1038/ng0815-962b
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- Publication type:
- Article
Transcriptional regulator PRDM12 is essential for human pain perception.
- Published in:
- Nature Genetics, 2015, v. 47, n. 7, p. 803, doi. 10.1038/ng.3308
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- Publication type:
- Article
Loss-of-function mutations in HINT1 cause axonal neuropathy with neuromyotonia.
- Published in:
- Nature Genetics, 2012, v. 44, n. 10, p. 1080, doi. 10.1038/ng.2406
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- Publication type:
- Article
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
- Published in:
- Nature Genetics, 2010, v. 42, n. 2, p. 160, doi. 10.1038/ng.508
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- Publication type:
- Article
Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy.
- Published in:
- Nature Genetics, 2004, v. 36, n. 6, p. 602, doi. 10.1038/ng1354
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- Publication type:
- Article
Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.
- Published in:
- Nature Genetics, 2004, v. 36, n. 3, p. 271, doi. 10.1038/ng1313
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- Publication type:
- Article
Whole exome sequencing in congenital pain insensitivity identifies a novel causative intronic NTRK1-mutation due to uniparental disomy.
- Published in:
- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2016, v. 171B, n. 6, p. 875, doi. 10.1002/ajmg.b.32458
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- Publication type:
- Article
Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 10, p. 3610, doi. 10.1007/s00415-020-09962-6
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- Publication type:
- Article
Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 9, p. 2124, doi. 10.1007/s00415-015-7727-2
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- Publication type:
- Article
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 5, p. 970, doi. 10.1007/s00415-014-7289-8
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- Publication type:
- Article
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I.
- Published in:
- Nature Genetics, 2001, v. 27, n. 3, p. 309, doi. 10.1038/85879
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- Publication type:
- Article
A Role for Rab7 in the Movement of Secretory Granules in Cytotoxic T Lymphocytes.
- Published in:
- Traffic, 2011, v. 12, n. 7, p. 902, doi. 10.1111/j.1600-0854.2011.01194.x
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- Publication type:
- Article
Molecular genetics of hereditary sensory neuropathies.
- Published in:
- NeuroMolecular Medicine, 2006, v. 8, n. 1/2, p. 147, doi. 10.1385/NMM:8:1-2:147
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- Publication type:
- Article
Hereditary sensory neuropathy type I.
- Published in:
- 2008
- By:
- Publication type:
- journal article
Hereditary sensory neuropathy type I.
- Published in:
- Orphanet Journal of Rare Diseases, 2008, v. 3, p. 1, doi. 10.1186/1750-1172-3-7
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- Publication type:
- Article
Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.
- Published in:
- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-016-0407-3
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- Publication type:
- Article
Linkage to a known gene but no mutation identified: comprehensive reanalysis of SPG4 HSP pedigrees reveals large deletions as the sole cause.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 739, doi. 10.1002/humu.20508
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- Publication type:
- Article
A novel missense mutation confirms ATL3 as a gene for hereditary sensory neuropathy type 1.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. e286, doi. 10.1093/brain/awu091
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- Publication type:
- Article
Genetic spectrum of hereditary neuropathies with onset in the first year of life.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 9, p. 2664, doi. 10.1093/brain/awr184
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- Publication type:
- Article
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
- Published in:
- Brain: A Journal of Neurology, 2011, v. 134, n. 6, p. 1839, doi. 10.1093/brain/awr076
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- Publication type:
- Article
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies.
- Published in:
- Brain: A Journal of Neurology, 2010, v. 133, n. 6, p. 1798, doi. 10.1093/brain/awq109
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- Publication type:
- Article
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Genes for hereditary sensory and autonomic neuropathies: a genotype–phenotype correlation.
- Published in:
- Brain: A Journal of Neurology, 2009, v. 132, n. 10, p. 2699, doi. 10.1093/brain/awp198
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- Publication type:
- Article
Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
- Published in:
- Brain: A Journal of Neurology, 2008, v. 131, n. 5, p. 1217
- By:
- Publication type:
- Article
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 9, p. 2124, doi. 10.1093/brain/awh232
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- Publication type:
- Article
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease.
- Published in:
- Journal of Neurology, 2012, v. 259, n. 3, p. 515, doi. 10.1007/s00415-011-6213-8
- By:
- Publication type:
- Article
Comparison of second lumbrical and interosseus latencies with standard measures of median nerve function across the carpal tunnel: a prospective study of 450 hands.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 7, p. 530
- By:
- Publication type:
- Article
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I.
- Published in:
- Human Mutation, 2011, v. 32, n. 6, p. E2211, doi. 10.1002/humu.21481
- By:
- Publication type:
- Article
Hereditary ATTR Amyloidosis in Austria: Prevalence and Epidemiological Hot Spots.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 7, p. 2234, doi. 10.3390/jcm9072234
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- Publication type:
- Article
Convolutional Neural Networks for Fully Automated Diagnosis of Cardiac Amyloidosis by Cardiac Magnetic Resonance Imaging.
- Published in:
- Journal of Personalized Medicine, 2021, v. 11, n. 12, p. 1268, doi. 10.3390/jpm11121268
- By:
- Publication type:
- Article
ATTR amyloidosis during the COVID-19 pandemic: insights from a global medical roundtable.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Clinical predominance of proximal upper limb weakness in CMT1A syndrome.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Phenotypes of the N88S Berardinelli–Seip congenital lipodystrophy 2 mutation.
- Published in:
- Annals of Neurology, 2005, v. 57, n. 3, p. 415
- By:
- Publication type:
- Article
Hereditary sensory neuropathy is caused by a mutation in the delta subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct4 ) gene.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 15, p. 1917, doi. 10.1093/hmg/ddg198
- By:
- Publication type:
- Article