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Heterozygous Variants in KCNJ10 Cause Paroxysmal Kinesigenic Dyskinesia Via Haploinsufficiency.
- Published in:
- Annals of Neurology, 2024, v. 96, n. 4, p. 758, doi. 10.1002/ana.27018
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- Publication type:
- Article
Paroxysmal kinesigenic dyskinesia and myotonia congenita in the same family: coexistence of a PRRT2 mutation and two CLCN1 mutations.
- Published in:
- Neuroscience Bulletin, 2014, v. 30, n. 6, p. 1010, doi. 10.1007/s12264-014-1467-7
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- Publication type:
- Article
Growth Hormone Deficiency in a Dopa-Responsive Dystonia Patient With a Novel Mutation of Guanosine Triphosphate Cyclohydrolase 1 Gene.
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- Journal of Child Neurology, 2015, v. 30, n. 6, p. 796, doi. 10.1177/0883073814538498
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- Publication type:
- Article
Variations of IGHMBP2 Gene Was Not the Major Cause of Han Chinese Patients With Non-5q-Spinal Muscular Atrophies.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 8, p. NP35, doi. 10.1177/0883073813497827
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- Publication type:
- Article
Biallelic variants in the COQ7 gene cause distal hereditary motor neuropathy in two Chinese families.
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- Brain: A Journal of Neurology, 2023, v. 146, n. 5, p. e27, doi. 10.1093/brain/awad040
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- Publication type:
- Article
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia.
- Published in:
- 2019
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- Publication type:
- journal article
Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification.
- Published in:
- Cell & Tissue Research, 2017, v. 370, n. 2, p. 267, doi. 10.1007/s00441-017-2663-3
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- Publication type:
- Article
Association Between Body Mass Index and Disease Severity in Chinese Spinocerebellar Ataxia Type 3 Patients.
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- Cerebellum, 2018, v. 17, n. 4, p. 494, doi. 10.1007/s12311-018-0929-2
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- Publication type:
- Article
Prognostic analysis of amyotrophic lateral sclerosis based on clinical features and plasma surface‐enhanced Raman spectroscopy.
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- Journal of Biophotonics, 2019, v. 12, n. 8, p. N.PAG, doi. 10.1002/jbio.201900012
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- Publication type:
- Article
The Quantum Well of One-Dimensional Photonic Crystals.
- Published in:
- Advances in Condensed Matter Physics, 2015, v. 2015, p. 1, doi. 10.1155/2015/959546
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- Publication type:
- Article
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
- Published in:
- Nature Genetics, 2011, v. 43, n. 12, p. 1252, doi. 10.1038/ng.1008
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- Publication type:
- Article
Correction to: Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
- Published in:
- 2020
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- Publication type:
- Correction Notice
Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4–Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
- Published in:
- Journal of Molecular Neuroscience, 2019, v. 68, n. 4, p. 640, doi. 10.1007/s12031-019-01319-7
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- Publication type:
- Article
c.835-5T>G Variant in SMN1 Gene Causes Transcript Exclusion of Exon 7 and Spinal Muscular Atrophy.
- Published in:
- Journal of Molecular Neuroscience, 2018, v. 65, n. 2, p. 196, doi. 10.1007/s12031-018-1079-1
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- Publication type:
- Article
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
- Published in:
- Frontiers in Neurology, 2021, v. 11, p. N.PAG, doi. 10.3389/fneur.2021.627531
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- Publication type:
- Article
Bidirectional Connections between Depression and Ataxia Severity in Spinocerebellar Ataxia Type 3 Patients.
- Published in:
- European Neurology, 2018, v. 79, n. 5/6, p. 266, doi. 10.1159/000489398
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- Publication type:
- Article
Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02014-w
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- Publication type:
- Article
Correction to: Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
- Published in:
- 2021
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- Publication type:
- corrected article
Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
- Published in:
- Orphanet Journal of Rare Diseases, 2021, v. 16, n. 1, p. 1, doi. 10.1186/s13023-021-02014-w
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- Publication type:
- Article
Potential markers for sample size estimations in hereditary spastic paraplegia type 5.
- Published in:
- 2021
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- Publication type:
- journal article
High frequency of the TARDBP p.M337 V mutation among south-eastern Chinese patients with familial amyotrophic lateral sclerosis.
- Published in:
- 2018
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- Publication type:
- journal article
B‐cell depletion limits HTLV‐1‐infected T‐cell expansion and ameliorate HTLV‐1‐associated myelopathy.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 10, p. 2756, doi. 10.1002/acn3.52190
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- Publication type:
- Article
Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1862, doi. 10.1002/acn3.51169
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- Publication type:
- Article
Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1360, doi. 10.1002/acn3.51124
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- Publication type:
- Article
Identification of SLC20A2 deletions in patients with primary familial brain calcification.
- Published in:
- Clinical Genetics, 2019, v. 96, n. 1, p. 53, doi. 10.1111/cge.13540
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- Publication type:
- Article
Two-Photon Spin States and Entanglement States.
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- International Journal of Theoretical Physics, 2014, v. 53, n. 11, p. 4012, doi. 10.1007/s10773-014-2152-3
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- Publication type:
- Article
Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
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- Molecular Diagnosis & Therapy, 2019, v. 23, n. 6, p. 781, doi. 10.1007/s40291-019-00426-w
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- Publication type:
- Article
Detection of pTDP‐43 via routine muscle biopsy: A promising diagnostic biomarker for amyotrophic lateral sclerosis.
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- Brain Pathology, 2024, v. 34, n. 6, p. 1, doi. 10.1111/bpa.13261
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- Publication type:
- Article
Reply to "SARS1 (SerRS) Causing De Novo Dominant Charcot–Marie–Tooth Disease with Slow Conduction".
- Published in:
- Annals of Neurology, 2023, v. 94, n. 6, p. 1189, doi. 10.1002/ana.26790
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- Publication type:
- Article
GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy.
- Published in:
- Annals of Neurology, 2022, v. 92, n. 3, p. 512, doi. 10.1002/ana.26436
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- Publication type:
- Article
Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
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- Journal of Neurology, 2024, v. 271, n. 2, p. 918, doi. 10.1007/s00415-023-12042-0
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- Publication type:
- Article
Median Nerve-Neurophysiological Index Correlates With the Survival of Patients With Amyotrophic Lateral Sclerosis.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.570227
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- Publication type:
- Article
Ataxic Severity Is Positively Correlated With Fatigue in Spinocerebellar Ataxia Type 3 Patients.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00266
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- Publication type:
- Article
Safety and Efficacy of Rasagiline in Addition to Levodopa for the Treatment of Idiopathic Parkinson's Disease: A Meta-Analysis of Randomised Controlled Trials.
- Published in:
- European Neurology, 2015, v. 73, n. 1/2, p. 5, doi. 10.1159/000367892
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- Publication type:
- Article
Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.
- Published in:
- Movement Disorders, 2024, v. 39, n. 1, p. 152, doi. 10.1002/mds.29664
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- Publication type:
- Article
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 9, p. 1750, doi. 10.1002/mds.29522
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- Publication type:
- Article
Exome‐Wide Analyses in Paroxysmal Kinesigenic Dyskinesia Confirm TMEM151A as a Novel Causative Gene.
- Published in:
- Movement Disorders, 2022, v. 37, n. 3, p. 641, doi. 10.1002/mds.28904
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- Publication type:
- Article
Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1446, doi. 10.1002/mds.28509
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- Publication type:
- Article
Higher Concentration of Plasma Glial Fibrillary Acidic Protein in Wilson Disease Patients with Neurological Manifestations.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1446, doi. 10.1002/mds.28509
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- Publication type:
- Article
Expanding the phenotype and genotype spectra of PLIN4-associated myopathy with rimmed ubiquitin-positive autophagic vacuolation.
- Published in:
- Acta Neuropathologica, 2022, v. 143, n. 6, p. 733, doi. 10.1007/s00401-022-02422-7
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- Publication type:
- Article
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.732389
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- Publication type:
- Article
Mutation Analysis of MYORG in a Chinese Cohort With Primary Familial Brain Calcification.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.732389
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- Publication type:
- Article
Variable frequency photonic crystals.
- Published in:
- Optical & Quantum Electronics, 2015, v. 47, n. 8, p. 2853, doi. 10.1007/s11082-015-0174-6
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- Publication type:
- Article
Advances in gene therapy for neurogenetic diseases: a brief review.
- Published in:
- Journal of Molecular Medicine, 2022, v. 100, n. 3, p. 385, doi. 10.1007/s00109-021-02167-y
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- Publication type:
- Article
Adenine base editing-mediated exon skipping restores dystrophin in humanized Duchenne mouse model.
- Published in:
- Nature Communications, 2024, v. 15, n. 1, p. 1, doi. 10.1038/s41467-024-50340-x
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- Publication type:
- Article
The Pathology of Primary Familial Brain Calcification: Implications for Treatment.
- Published in:
- Neuroscience Bulletin, 2023, v. 39, n. 4, p. 659, doi. 10.1007/s12264-022-00980-0
- By:
- Publication type:
- Article
A Post-Marketing Surveillance Study of Nusinersen for Spinal Muscular Atrophy in Routine Medical Practice in China: Interim Results.
- Published in:
- Advances in Therapy, 2024, v. 41, n. 7, p. 2743, doi. 10.1007/s12325-024-02852-7
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- Publication type:
- Article
Whole exome sequencing reveals a broader variant spectrum of Charcot-Marie-Tooth disease type 2.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 79, doi. 10.1007/s10048-019-00591-4
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- Publication type:
- Article
Research progress of spinal muscular atrophy treatment in children.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2018, v. 18, n. 4, p. 284, doi. 10.3969/j.issn.1672-6731.2018.04.010
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- Publication type:
- Article
Target region capture sequencing for detecting GDAP1 gene mutation of autosomal recessive Charcot?Marie?Tooth disease.
- Published in:
- Chinese Journal of Contemporary Neurology & Neurosurgery, 2017, v. 17, n. 8, p. 603, doi. 10.3969/j.issn.1672-6731.2017.08.009
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- Publication type:
- Article