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A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing.
- Published in:
- Journal of the Peripheral Nervous System, 2024, v. 29, n. 2, p. 262, doi. 10.1111/jns.12637
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- Publication type:
- Article
An Inversion Affecting the GCH1 Gene as a Novel Finding in Dopa‐Responsive Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 582, doi. 10.1002/mdc3.14023
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- Publication type:
- Article
Dynamic Taping: A Promising Non-surgical Management Technique for Lactational Breast Abscess.
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- Journal of Neonatology, 2024, v. 38, n. 1, p. 44, doi. 10.1177/09732179231221041
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- Publication type:
- Article
Two New Families and a Literature Review of ELOVL4-Associated Spinocerebellar Ataxia Type 34.
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- Cerebellum, 2024, v. 23, n. 1, p. 268, doi. 10.1007/s12311-023-01522-8
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- Publication type:
- Article
Informing a value care model: lessons from an integrated adult neurogenomics clinic.
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- Internal Medicine Journal, 2023, v. 53, n. 12, p. 2198, doi. 10.1111/imj.16103
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- Publication type:
- Article
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.
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- Movement Disorders, 2023, v. 38, n. 10, p. 1914, doi. 10.1002/mds.29562
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- Publication type:
- Article
Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays.
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- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1231584
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- Publication type:
- Article
Author Correction: Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00560-7
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- Publication type:
- Article
Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review.
- Published in:
- Genes, 2023, v. 14, n. 9, p. 1756, doi. 10.3390/genes14091756
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- Publication type:
- Article
Myelin protein zero–related autosomal dominant peripheral neuropathy presenting as hereditary neuropathy with liability to pressure palsies.
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- Muscle & Nerve, 2023, v. 68, n. 3, p. E34, doi. 10.1002/mus.27931
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- Publication type:
- Article
Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2).
- Published in:
- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00526-9
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- Publication type:
- Article
Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.
- Published in:
- Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1073516
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- Publication type:
- Article
NOTCH2NLC GGC Repeat Expansion Presenting as Adult‐Onset Cervical Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 704, doi. 10.1002/mdc3.13677
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- Publication type:
- Article
Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs.
- Published in:
- Frontiers in Neuroscience, 2023, v. 17, p. 1, doi. 10.3389/fnins.2023.1073516
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- Publication type:
- Article
Tele-NICU: A Possible Solution for Bridging the 'Gap'.
- Published in:
- 2023
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- Publication type:
- Letter
A NOVEL TREATMENT FOR APNOEA OF PREMATURITY.
- Published in:
- Pediatric Oncall Journal, 2023, v. 20, n. 1, p. 1, doi. 10.7199/ped.oncall.2023.8
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
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- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Publication type:
- Article
Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants.
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- American Journal of Medical Genetics. Part A, 2022, v. 188, n. 7, p. 2226, doi. 10.1002/ajmg.a.62755
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- Publication type:
- Article
Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.
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- Journal of the Peripheral Nervous System, 2022, v. 27, n. 2, p. 120, doi. 10.1111/jns.12485
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- Publication type:
- Article
A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
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- Molecular Genetics & Genomic Medicine, 2022, v. 10, n. 5, p. 1, doi. 10.1002/mgg3.1923
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- Publication type:
- Article
Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force – An Update.
- Published in:
- Movement Disorders, 2022, v. 37, n. 5, p. 905, doi. 10.1002/mds.28982
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- Publication type:
- Article
Possible EIF2AK2‐Associated Stress‐Related Neurological Decompensation with Combined Dystonia and Striatal Lesions.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 2, p. 240, doi. 10.1002/mdc3.13384
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- Publication type:
- Article
Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement.
- Published in:
- Movement Disorders, 2022, v. 37, n. 1, p. 137, doi. 10.1002/mds.28804
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- Publication type:
- Article
Oxygen for the delivery room respiratory support of moderate‐to‐late preterm infants. An international survey of clinical practice from 21 countries.
- Published in:
- Acta Paediatrica, 2021, v. 110, n. 12, p. 3261, doi. 10.1111/apa.16091
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- Publication type:
- Article
Home Vaccination - The way forward in a Pandemic.
- Published in:
- Indian Pediatrics, 2021, v. 58, n. 10, p. 998, doi. 10.1007/s13312-021-2342-z
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- Publication type:
- Article
An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics.
- Published in:
- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01201-x
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- Publication type:
- Article
Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities.
- Published in:
- Annals of Neurology, 2020, v. 88, n. 5, p. 867, doi. 10.1002/ana.25879
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- Publication type:
- Article
Long‐Term Follow‐Up and Evolution of ADCY5—From a Ballistic to Dystonic Phenotype.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 8, p. 985, doi. 10.1002/mdc3.13069
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- Publication type:
- Article
RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.
- Published in:
- 2020
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- Publication type:
- letter
Prevalence of Vitamin D Deficiency Among Newborns.
- Published in:
- 2020
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- Publication type:
- Letter
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
- Published in:
- Human Mutation, 2019, v. 40, n. 12, p. 2444, doi. 10.1002/humu.23913
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- Publication type:
- Article
Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review.
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- Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00967
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- Publication type:
- Article
Increased Diagnostic Yield of Spastic Paraplegia with or Without Cerebellar Ataxia Through Whole-Genome Sequencing.
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- Cerebellum, 2019, v. 18, n. 4, p. 781, doi. 10.1007/s12311-019-01038-0
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- Publication type:
- Article
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia.
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- Cerebellum, 2019, v. 18, n. 1, p. 137, doi. 10.1007/s12311-018-0969-7
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- Publication type:
- Article
Motor protein binding and mitochondrial transport are altered by pathogenic TUBB4A variants.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1901, doi. 10.1002/humu.23602
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- Publication type:
- Article
Multiple Linear Regression Model for Removal of Iron Using Low Cost Adsorbents.
- Published in:
- Bulletin of Pure & Applied Sciences-Chemistry, 2018, v. 37C, n. 2, p. 207, doi. 10.5958/2320-320X.2018.00029.8
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- Publication type:
- Article
Survival and Short Term Outcomes of Very Preterm Infants.
- Published in:
- 2017
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- Publication type:
- letter
New gene implicated in early-onset generalized dystonia: Lysine-specific methyltransferase 2B (KMT2B).
- Published in:
- 2017
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- Publication type:
- journal article
Ankyloglossia in infancy: An Indian experience.
- Published in:
- Indian Pediatrics, 2017, v. 54, n. 2, p. 125, doi. 10.1007/s13312-017-1014-5
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- Publication type:
- Article
Pharmacognostical Standardization of Upodika-.Basella alba L.: An Important Ayurvedic Antidiabetic Plant.
- Published in:
- Ancient Science of Life, 2016, v. 36, n. 1, p. 35, doi. 10.4103/0257-7941.195411
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- Publication type:
- Article
Mutations in TUBB4A and spastic paraplegia.
- Published in:
- 2015
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- Publication type:
- commentary
Faciomaxillary fractures in a Semi-urban South Indian Teaching Hospital: A retrospective analysis of 638 cases.
- Published in:
- 2015
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- Publication type:
- Case Study
An Update on the Hereditary Spastic Paraplegias: New Genes and New Disease Models.
- Published in:
- Movement Disorders Clinical Practice, 2015, v. 2, n. 3, p. 213, doi. 10.1002/mdc3.12184
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- Publication type:
- Article
Vitamin D Deficiency Among Women in Labor and Cord Blood of Newborns.
- Published in:
- Indian Pediatrics, 2015, v. 52, n. 6, p. 530
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- Publication type:
- Article
Transoral versus extraoral approach for mandibular angle fractures: A comparative study.
- Published in:
- Indian Journal of Plastic Surgery, 2014, v. 47, n. 3, p. 354, doi. 10.4103/0970-0358.146590
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- Publication type:
- Article
GNAL Mutations and Dystonia.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 8, p. 1052, doi. 10.1001/jamaneurol.2014.1506
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- Publication type:
- Article
Commentary for 'Genetic Creutzfeldt-Jakob disease with R208H mutation presenting as progressive supranuclear palsy'.
- Published in:
- 2014
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- Publication type:
- Other
Commentary for "Genetic Creutzfeldt-Jakob Disease with R208H Mutation Presenting as Progressive Supranuclear Palsy".
- Published in:
- Movement Disorders, 2014, v. 29, p. E1, doi. 10.1002/mds.25089
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- Publication type:
- Article