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SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 9, p. 3131, doi. 10.1093/brain/awae079
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- Publication type:
- Article
Diagnostic and clinical utility of comprehensive multigene panel testing for patients with neuropathy.
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- Journal of the Peripheral Nervous System, 2024, v. 29, n. 3, p. 363, doi. 10.1111/jns.12651
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- Publication type:
- Article
A Unique Mutation in Connexin32 Associated with Severe, Early Onset CMTX in a Heterozygous Female.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 481, doi. 10.1111/j.1749-6632.1999.tb08616.x
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- Publication type:
- Article
X-linked Charcot-Marie-Tooth Disease and Connexin32.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 36, doi. 10.1111/j.1749-6632.1999.tb08564.x
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- Publication type:
- Article
Nodes, Paranodes, and Incisures: From Form to Function.
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- Annals of the New York Academy of Sciences, 1999, v. 883, n. 1, p. 131, doi. 10.1111/j.1749-6632.1999.tb08576.x
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- Publication type:
- Article
Neuregulins as Potential Neuroprotective Agents.
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- Annals of the New York Academy of Sciences, 1997, v. 825, n. 1, p. 348, doi. 10.1111/j.1749-6632.1997.tb48446.x
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- Publication type:
- Article
A study concept of expeditious clinical enrollment for genetic modifier studies in Charcot–Marie–Tooth neuropathy 1A.
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- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 202, doi. 10.1111/jns.12621
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- Publication type:
- Article
Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID‐19 pandemic: Challenges and solutions.
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- 2023
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- Publication type:
- Letter to the Editor
A recurrent MORC2 mutation causes Charcot‐Marie‐Tooth disease type 2Z.
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- Journal of the Peripheral Nervous System, 2021, v. 26, n. 2, p. 184, doi. 10.1111/jns.12443
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- Publication type:
- Article
A recurrent GARS mutation causes distal hereditary motor neuropathy.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 320, doi. 10.1111/jns.12353
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- Publication type:
- Article
Yield of next‐generation neuropathy gene panels in axonal neuropathies.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 4, p. 324, doi. 10.1111/jns.12356
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- Publication type:
- Article
POLG mutations presenting as Charcot‐Marie‐Tooth disease.
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- Journal of the Peripheral Nervous System, 2019, v. 24, n. 2, p. 213, doi. 10.1111/jns.12313
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- Publication type:
- Article
A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.
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- Journal of the Peripheral Nervous System, 2018, v. 23, n. 1, p. 36, doi. 10.1111/jns.12248
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- Publication type:
- Article
Molecular specializations at nodes and paranodes in peripheral nerve.
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- Microscopy Research & Technique, 1996, v. 34, n. 5, p. 452, doi. 10.1002/(SICI)1097-0029(19960801)34:5<452::AID-JEMT5>3.0.CO;2-O
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- Publication type:
- Article
Connexin32 Mutations Cause Loss of Function in Schwann Cells and Oligodendrocytes Leading to PNS and CNS Myelination Defects.
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- Journal of Neuroscience, 2009, v. 29, n. 15, p. 4736, doi. 10.1523/JNEUROSCI.0325-09.2009
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- Publication type:
- Article
Two Distinct Heterotypic Channels Mediate Gap Junction Coupling between Astrocyte and Oligodendrocyte Connexins.
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- Journal of Neuroscience, 2007, v. 27, n. 51, p. 13949, doi. 10.1523/JNEUROSCI.3395-07.2007
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- Publication type:
- Article
Genetic test utilization and diagnostic yield in adult patients with neurological disorders.
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- Neurogenetics, 2018, v. 19, n. 2, p. 105, doi. 10.1007/s10048-018-0544-x
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- Publication type:
- Article
Nectin-like proteins mediate axon--Schwann cell interactions along the internode and are essential for myelination.
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- Journal of Cell Biology, 2007, v. 178, n. 5, p. 861, doi. 10.1083/jcb.200705132
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- Publication type:
- Article
Distinct claudins and associated PDZ proteins form different autotypic tight junctions in myelinating Schwann cells.
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- Journal of Cell Biology, 2002, v. 159, n. 2, p. 361, doi. 10.1083/jcb.200207050
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- Publication type:
- Article
Notch1 control of oligodendrocyte differentiation in the spinal cord.
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- Journal of Cell Biology, 2002, v. 158, n. 4, p. 709, doi. 10.1083/jcb.200202002
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- Publication type:
- Article
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).
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- Human Molecular Genetics, 2013, v. 22, n. 21, p. 4329, doi. 10.1093/hmg/ddt282
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- Publication type:
- Article
The in vivo contribution of motor neuron TrkB receptors to mutant SOD1 motor neuron disease.
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- Human Molecular Genetics, 2011, v. 20, n. 21, p. 4116, doi. 10.1093/hmg/ddr335
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- Publication type:
- Article
Regulation of fibronectin alternative splicing during peripheral nerve repair.
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- Journal of Neuroscience Research, 1999, v. 56, n. 4, p. 323, doi. 10.1002/(SICI)1097-4547(19990515)56:4<323::AID-JNR1>3.0.CO;2-6
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- Publication type:
- Article
p200, a collagen secreted by Schwann cells, is expressed in developing nerves and in adult nerves following axotomy.
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- Journal of Neuroscience Research, 1999, v. 56, n. 3, p. 284, doi. 10.1002/(SICI)1097-4547(19990501)56:3<284::AID-JNR8>3.0.CO;2-Q
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- Publication type:
- Article
Maturation-dependent apoptotic cell death of oligodendrocytes in myelin-deficient rats.
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- Journal of Neuroscience Research, 1998, v. 54, n. 5, p. 623, doi. 10.1002/(SICI)1097-4547(19981201)54:5<623::AID-JNR7>3.0.CO;2-R
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- Publication type:
- Article
Transient expression of the neurofilament proteins NF-L and NF-M by Schwann cells is regulated by axonal contact.
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- Journal of Neuroscience Research, 1997, v. 50, n. 2, p. 291, doi. 10.1002/(SICI)1097-4547(19971015)50:2<291::AID-JNR17>3.0.CO;2-B
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- Publication type:
- Article
Expression of the neurofibromatosis 2 tumor suppressor gene product, merlin, in Schwann cells.
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- Journal of Neuroscience Research, 1996, v. 46, n. 5, p. 595, doi. 10.1002/(SICI)1097-4547(19961201)46:5<595::AID-JNR8>3.0.CO;2-E
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- Publication type:
- Article
Neuropathy due to bi-allelic SH3TC2 variants: genotype-phenotype correlation and natural history.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3826, doi. 10.1093/brain/awad095
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- Publication type:
- Article
Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.
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- Annals of Neurology, 2023, v. 93, n. 5, p. 906, doi. 10.1002/ana.26633
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- Publication type:
- Article
Intraneural GJB 1 gene delivery improves nerve pathology in a model of X-linked Charcot- Marie- Tooth disease.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 2, p. 303, doi. 10.1002/ana.24441
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- Publication type:
- Article
Internodal specializations of myelinated axons in the central nervous system.
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- Cell & Tissue Research, 2001, v. 305, n. 1, p. 53, doi. 10.1007/s004410100403
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- Publication type:
- Article
Myopathy associated BAG3 mutations lead to protein aggregation by stalling Hsp70 networks.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-07718-5
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- Article
Modality-Based Organization of Ascending Somatosensory Axons in the Direct Dorsal Column Pathway.
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- Journal of Neuroscience, 2013, v. 33, n. 45, p. 17691, doi. 10.1523/JNEUROSCI.3429-13.2013
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- Publication type:
- Article
Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 733, doi. 10.1007/s00415-023-12058-6
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- Publication type:
- Article
Accelerate Clinical Trials in Charcot-Marie-Tooth Disease (ACT-CMT): A Protocol to Address Clinical Trial Readiness in CMT1A.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930435
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- Publication type:
- Article
Expression of multiple neuregulin transcripts in postnatal rat brains.
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- Journal of Comparative Neurology, 1994, v. 349, n. 3, p. 389, doi. 10.1002/cne.903490306
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- Publication type:
- Article
Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.
- Published in:
- Scientific Reports, 2017, p. 40166, doi. 10.1038/srep40166
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- Publication type:
- Article
The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics.
- Published in:
- Biology (2079-7737), 2024, v. 13, n. 2, p. 93, doi. 10.3390/biology13020093
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- Publication type:
- Article
Disruption of Endosomal Sorting in Schwann Cells Leads to Defective Myelination and Endosomal Abnormalities Observed in Charcot-Marie-Tooth Disease.
- Published in:
- Journal of Neuroscience, 2022, v. 42, n. 25, p. 5085, doi. 10.1523/JNEUROSCI.2481-21.2022
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- Publication type:
- Article
Schwann cell-derived periostin promotes autoimmune peripheral polyneuropathy via macrophage recruitment.
- Published in:
- 2018
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- Publication type:
- journal article
PMP22 antisense oligonucleotides reverse Charcot-Marie-Tooth disease type 1A features in rodent models.
- Published in:
- 2018
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- Publication type:
- journal article
The debut of a rational treatment for an inherited neuropathy?
- Published in:
- 2011
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- Publication type:
- journal article
Paranodal permeability in 'myelin mutants'.
- Published in:
- Glia, 2011, v. 59, n. 10, p. 1447, doi. 10.1002/glia.21188
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- Publication type:
- Article
Central nervous system dysfunction in a mouse model of Fa2h deficiency.
- Published in:
- Glia, 2011, v. 59, n. 7, p. 1009, doi. 10.1002/glia.21172
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- Publication type:
- Article
Molecular mechanisms of inherited demyelinating neuropathies.
- Published in:
- Glia, 2008, v. 56, n. 14, p. 1578, doi. 10.1002/glia.20751
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- Publication type:
- Article
Pannexin1 is expressed by neurons and glia but does not form functional gap junctions.
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- Glia, 2007, v. 55, n. 1, p. 46, doi. 10.1002/glia.20435
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- Publication type:
- Article
Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes.
- Published in:
- Glia, 2004, v. 47, n. 4, p. 346, doi. 10.1002/glia.20043
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- Publication type:
- Article
Schwann cell caveolin-1 expression increases during myelination and decreases after axotomy.
- Published in:
- Glia, 2002, v. 38, n. 3, p. 191, doi. 10.1002/glia.10063
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- Publication type:
- Article
Connexin32-null mice develop demyelinating peripheral neuropathy.
- Published in:
- Glia, 1998, v. 24, n. 1, p. 8, doi. 10.1002/(SICI)1098-1136(199809)24:1<8::AID-GLIA2>3.0.CO;2-3
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- Publication type:
- Article
Regulation of neurofibromin expression in rat sciatic nerve and cultured Schwann cells.
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- Glia, 1995, v. 15, n. 1, p. 22, doi. 10.1002/glia.440150104
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- Publication type:
- Article