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Myelin protein zero mutation‐related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.
- Published in:
- Brain Pathology, 2024, v. 34, n. 1, p. 1, doi. 10.1111/bpa.13200
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- Publication type:
- Article
PLEKHG5: Merging phenotypes and disease mechanisms in Charcot‐Marie‐Tooth neuropathy and lower motor neuron disease.
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- European Journal of Neurology, 2021, v. 28, n. 4, p. 1106, doi. 10.1111/ene.14752
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- Publication type:
- Article
Charcot-Marie-Tooth disease and hereditary motor neuropathies – Update 2020.
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- 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.
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- Medizinische Genetik, 2020, p. 207, doi. 10.1515/medgen-2020-2038
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- Publication type:
- Article
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 11, p. 3810, doi. 10.3390/ijms21113810
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- Publication type:
- Article
Congenital myasthenic syndrome caused by novel COL13A1 mutations.
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- Journal of Neurology, 2019, v. 266, n. 5, p. 1107, doi. 10.1007/s00415-019-09239-7
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- Publication type:
- Article
MPV17 mutations in juvenile‐ and adult‐onset axonal sensorimotor polyneuropathy.
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- Clinical Genetics, 2019, v. 95, n. 1, p. 182, doi. 10.1111/cge.13462
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- Publication type:
- Article
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy.
- Published in:
- Human Genetics, 2018, v. 137, n. 11/12, p. 911, doi. 10.1007/s00439-018-1952-6
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- Publication type:
- Article
Recessive variants of MuSK are associated with late onset CMS and predominant limb girdle weakness.
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- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 7, p. 1594, doi. 10.1002/ajmg.a.38707
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- Article
Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.
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- 2017
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- Publication type:
- letter
Towards a functional pathology of hereditary neuropathies.
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- Acta Neuropathologica, 2017, v. 133, n. 4, p. 493, doi. 10.1007/s00401-016-1645-y
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- Publication type:
- Article
The Caveolin-3 G56S sequence variant of unknown significance: Muscle biopsy findings and functional cell biological analysis.
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- Proteomics - Clinical Applications, 2017, v. 11, n. 1/2, p. n/a, doi. 10.1002/prca.201600007
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- Publication type:
- Article
Warburg micro syndrome type 1 associated with peripheral neuropathy and cardiomyopathy.
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- Folia Neuropathologica, 2016, v. 54, n. 3, p. 273, doi. 10.5114/fn.2016.62537
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- Publication type:
- Article
Identification of mutations in the MYO9A gene in patients with congenital myasthenic syndrome.
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- 2016
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- Publication type:
- journal article
Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.
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- 2015
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- Publication type:
- journal article
A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
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- Human Molecular Genetics, 2015, v. 24, n. 12, p. 3418, doi. 10.1093/hmg/ddv090
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- Publication type:
- Article
Defects of mutant DNMT1 are linked to a spectrum of neurological disorders.
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- Brain: A Journal of Neurology, 2015, v. 138, n. 4, p. 845, doi. 10.1093/brain/awv010
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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.
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- 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
Phenotype of matrin-3-related distal myopathy in 16 German patients.
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- Annals of Neurology, 2014, v. 76, n. 5, p. 669, doi. 10.1002/ana.24255
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- Publication type:
- Article
Clinical and morphological variability of the E396K mutation in the neurofilament light chain gene in patients with Charcot-Marie-Tooth disease type 2E.
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- Clinical Neuropathology, 2014, v. 33, n. 5, p. 335, doi. 10.5414/NP300742
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- Publication type:
- Article
SIL1-negative Marinesco-Sjögren syndrome: First report of two sibs from India.
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- 2014
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- Publication type:
- Case Study
Myopathy in Marinesco–Sjögren syndrome links endoplasmic reticulum chaperone dysfunction to nuclear envelope pathology.
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- Acta Neuropathologica, 2014, v. 127, n. 5, p. 761, doi. 10.1007/s00401-013-1224-4
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- Publication type:
- Article
Whole-exome sequencing in patients with inherited neuropathies: outcome and challenges.
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- Journal of Neurology, 2014, v. 261, n. 5, p. 970, doi. 10.1007/s00415-014-7289-8
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy and Charcot-Marie-Tooth neuropathy 1A - evidence for "double trouble" overlapping syndromes.
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- BMC Medical Genetics, 2013, v. 14, n. 1, p. 1, doi. 10.1186/1471-2350-14-92
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- Publication type:
- Article
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling.
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- Glia, 2013, v. 61, n. 7, p. 1041, doi. 10.1002/glia.22493
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- Publication type:
- Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
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- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-41
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- Publication type:
- Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
- Published in:
- 2013
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- Publication type:
- journal article
Myelin is dependent on the Charcot–Marie–Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. 3567, doi. 10.1093/brain/aws275
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- Publication type:
- Article
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration.
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- Nature Genetics, 2012, v. 44, n. 6, p. 704, doi. 10.1038/ng.2254
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- Publication type:
- Article
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
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- Journal of Neurology, 2012, v. 259, n. 5, p. 838, doi. 10.1007/s00415-011-6262-z
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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.
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- Journal of Neurology, 2012, v. 259, n. 3, p. 515, doi. 10.1007/s00415-011-6213-8
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- Publication type:
- Article
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin.
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- Brain: A Journal of Neurology, 2011, v. 134, n. 6, p. 1839, doi. 10.1093/brain/awr076
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- Publication type:
- Article
SH3TC2, a protein mutant in Charcot–Marie–Tooth neuropathy, links peripheral nerve myelination to endosomal recycling.
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- Brain: A Journal of Neurology, 2010, v. 133, n. 8, p. 2462, doi. 10.1093/brain/awq168
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- Publication type:
- Article
Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
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- Nature Genetics, 2010, v. 42, n. 2, p. 160, doi. 10.1038/ng.508
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- Publication type:
- Article
Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy.
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- Nature Genetics, 2009, v. 41, n. 11, p. 1179, doi. 10.1038/ng.464
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- Publication type:
- Article
Small Rho GTPases are key regulators of peripheral nerve biology in health and disease.
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- Journal of the Peripheral Nervous System, 2008, v. 13, n. 3, p. 188, doi. 10.1111/j.1529-8027.2008.00177.x
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- Publication type:
- Article
RSPO4 Is the Major Gene in Autosomal-Recessive Anonychia and Mutations Cluster in the Furin-Like Cysteine-Rich Domains of the Wnt Signaling Ligand R-spondin 4.
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- Journal of Investigative Dermatology, 2008, v. 128, n. 4, p. 791, doi. 10.1038/sj.jid.5701088
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- Publication type:
- Article
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
- Published in:
- Human Mutation, 2008, v. 29, n. 1, p. 45, doi. 10.1002/humu.20614
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- Publication type:
- Article
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.
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- Human Mutation, 2007, v. 28, n. 6, p. 638, doi. 10.1002/humu.9496
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- Publication type:
- Article
Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy.
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- Neurogenetics, 2007, v. 8, n. 2, p. 137, doi. 10.1007/s10048-006-0070-0
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- Publication type:
- Article
Functional analysis of PKHD1 splicing in autosomal recessive polycystic kidney disease.
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- Journal of Human Genetics, 2006, v. 51, n. 9, p. 788, doi. 10.1007/s10038-006-0022-4
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- Publication type:
- Article
Myotilin is not the Causative Gene for Vocal Cord and Pharyngeal Weakness with Distal Myopathy (VCPDM).
- Published in:
- Annals of Human Genetics, 2006, v. 70, n. 3, p. 414, doi. 10.1111/j.1529-8817.2005.00252.x
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- Publication type:
- Article
Diagnosis, Pathogenesis, and Treatment Prospects in Cystic Kidney Disease.
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- Molecular Diagnosis & Therapy, 2006, v. 10, n. 3, p. 163, doi. 10.1007/BF03256455
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- Publication type:
- Article
Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.
- Published in:
- Nature Genetics, 2005, v. 37, n. 12, p. 1312, doi. 10.1038/ng1678
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- Publication type:
- Article
Algorithm for efficient PKHD1 mutation screening in autosomal recessive polycystic kidney disease (ARPKD).
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- Human Mutation, 2005, v. 25, n. 3, p. 225, doi. 10.1002/humu.20145
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- Publication type:
- Article
Clinical consequences ofPKHD1mutations in 164 patients with autosomal-recessive polycystic kidney disease (ARPKD).
- Published in:
- Kidney International, 2005, v. 67, n. 3, p. 829, doi. 10.1111/j.1523-1755.2005.00148.x
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- Publication type:
- Article
PKHD1 mutations in autosomal recessive polycystic kidney disease (ARPKD).
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 453, doi. 10.1002/humu.20029
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- Publication type:
- Article
PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD).
- Published in:
- Human Mutation, 2004, v. 23, n. 5, p. 487, doi. 10.1002/humu.20019
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- Publication type:
- Article
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
- Published in:
- Nature Genetics, 2004, v. 36, n. 5, p. 449, doi. 10.1038/ng1341
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- Publication type:
- Article
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 3, p. 363
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- Publication type:
- Article