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Early onset LGMDR19 with unusual features related to GMPPB gene in South Indian siblings with variable phenotype.
- Published in:
- Neurology Asia, 2024, v. 29, n. 2, p. 397, doi. 10.54029/2024ifk
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- Publication type:
- Article
Outpatient Neuropalliative Care Services in a Tertiary Hospital Setting.
- Published in:
- 2024
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- Publication type:
- Letter to the Editor
Clinical spectrum, biochemical profile and disease progression of Kennedy disease in an Indian cohort.
- Published in:
- Internal Medicine Journal, 2024, v. 54, n. 3, p. 455, doi. 10.1111/imj.16205
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- Publication type:
- Article
Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort.
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- Brain: A Journal of Neurology, 2024, v. 147, n. 1, p. 281, doi. 10.1093/brain/awad315
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- Publication type:
- Article
A Novel Mutation in Frabin (FGD4) Causing a Mild Phenotype of CMT4H in an Indian Patient.
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- Journal of Neuromuscular Diseases, 2024, v. 11, n. 1, p. 221, doi. 10.3233/JND-230042
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- Publication type:
- Article
Myotonic Dystrophy Type 1 (DM1): Clinical Characteristics and Disease Progression in a Large Cohort.
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- Neurology India, 2024, v. 72, n. 1, p. 83, doi. 10.4103/neuroindia.NI_1432_20
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- Publication type:
- Article
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
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- Publication type:
- Article
Identification of a shared, common haplotype segregating with an SGCB c.544 T > G mutation in Indian patients affected with sarcoglycanopathy.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-41487-6
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- Publication type:
- Article
Spastic quadriparesis in Fabry disease: A diagnostic challenge.
- Published in:
- 2023
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- Publication type:
- Case Study
Status Dystonicus in Subacute Sclerosing Panencephalitis-A Rare Presentation in Emergency.
- Published in:
- Neurology India, 2023, v. 71, n. 5, p. 994, doi. 10.4103/0028-3886.388104
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- Publication type:
- Article
Adult Onset Episodic Encephalopathy Due to Citrin Deficiency--A Case Report.
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- Annals of Indian Academy of Neurology, 2023, v. 26, n. 4, p. 553, doi. 10.4103/aian.aian_175_23
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- Publication type:
- Article
Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 615, doi. 10.3233/JND-221618
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- Publication type:
- Article
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
- Published in:
- Journal of Neuromuscular Diseases, 2023, v. 10, n. 4, p. 727, doi. 10.3233/JND-230017
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- Publication type:
- Article
An individualised psychosocial intervention program for persons with MND/ALS and their families in low resource settings.
- Published in:
- Chronic Illness, 2023, v. 19, n. 2, p. 458, doi. 10.1177/17423953221097076
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- Publication type:
- Article
Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/4362273
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- Publication type:
- Article
Obstructive Hydrocephalus as the Solitary Manifestation of Young Onset Erdheim--Chester Disease.
- Published in:
- Annals of Indian Academy of Neurology, 2023, v. 26, n. 1, p. 77, doi. 10.4103/aian.aian_537_22
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- Publication type:
- Article
Genotype–phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
- Published in:
- Neurogenetics, 2023, v. 24, n. 1, p. 43, doi. 10.1007/s10048-022-00707-3
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- Publication type:
- Article
PET-MRI in idiopathic inflammatory myositis: a comparative study of clinical and immunological markers with imaging findings.
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- Neurological Research & Practice, 2022, v. 4, n. 1, p. 1, doi. 10.1186/s42466-022-00213-9
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- Publication type:
- Article
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse‐Sakati syndrome.
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- Journal of Neuroendocrinology, 2022, v. 34, n. 10, p. 1, doi. 10.1111/jne.13185
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- Publication type:
- Article
Clinical, genetic profile and disease progression of sarcoglycanopathies in a large cohort from India: high prevalence of SGCB c.544A > C.
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- Neurogenetics, 2022, v. 23, n. 3, p. 187, doi. 10.1007/s10048-022-00690-9
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- Publication type:
- Article
Cross-Sectional Area Reference Values of Nerves in the Upper and Lower Extremities using Ultrasonography in the Indian Population.
- Published in:
- Annals of Indian Academy of Neurology, 2022, v. 25, n. 3, p. 489, doi. 10.4103/aian.aian_727_21
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- Publication type:
- Article
Thymic Lesions in Myasthenia Gravis: A Clinicopathological Study from India.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 3, p. 411, doi. 10.3233/JND-210785
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- Publication type:
- Article
Inflammatory Myositis in a Child due to Anti-NXP2 Antibody, First Case Report from India.
- Published in:
- 2022
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- Publication type:
- Case Study
Novel TBK1 variant associated with Frontotemporal Dementia overlap syndrome.
- Published in:
- Acta Neurologica Scandinavica, 2022, v. 145, n. 4, p. 399, doi. 10.1111/ane.13562
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- Publication type:
- Article
Disrupted structural connectome and neurocognitive functions in Duchenne muscular dystrophy: classifying and subtyping based on Dp140 dystrophin isoform.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 4, p. 2113, doi. 10.1007/s00415-021-10789-y
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- Publication type:
- Article
The Spectrum of Neuro-COVID: A Study of a Comprehensively Investigated Large Cohort from India.
- Published in:
- Annals of Indian Academy of Neurology, 2022, v. 25, n. 2, p. 194, doi. 10.4103/aian.aian_310_21
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- Publication type:
- Article
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
- Published in:
- Global Medical Genetics, 2022, v. 9, n. 1, p. 34, doi. 10.1055/s-0041-1736567
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- Publication type:
- Article
Late Onset Pompe Disease with Novel Mutations and Atypical Phenotypes.
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- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 261, doi. 10.3233/JND-210728
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- Publication type:
- Article
Development of Guidelines for Spouses Engaged in Home-Based Care of Persons With Motor Neuron Disease From Indian Context.
- Published in:
- Journal of Patient Experience, 2022, v. 9, p. 1, doi. 10.1177/23743735221077535
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- Publication type:
- Article
Muscle ultrasonography in detecting fasciculations: A noninvasive diagnostic tool for amyotrophic lateral sclerosis.
- Published in:
- Journal of Clinical Ultrasound, 2022, v. 50, n. 2, p. 286, doi. 10.1002/jcu.23084
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- Publication type:
- Article
Mutation Spectrum of Primary Lipid Storage Myopathies.
- Published in:
- Annals of Indian Academy of Neurology, 2022, v. 25, n. 1, p. 106, doi. 10.4103/aian.aian_333_21
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- Publication type:
- Article
Ramsay Hunt Syndrome Leading to the Brainstem and Cerebellar Involvement: A Case Report of a Rare Co-occurrence.
- Published in:
- 2022
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- Publication type:
- Case Study
Diaphragmatic ultrasound: Prospects as a tool to assess respiratory muscle involvement in amyotrophic lateral sclerosis.
- Published in:
- Journal of Clinical Ultrasound, 2022, v. 50, n. 1, p. 131, doi. 10.1002/jcu.23069
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- Publication type:
- Article
Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 1, p. 95, doi. 10.3233/JND-200628
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- Publication type:
- Article
Development of Guidelines for Spouses Engaged in Home-Based Care of Persons With Motor Neuron Disease From Indian Context.
- Published in:
- Journal of Patient Experience, 2022, v. 9, p. 1, doi. 10.1177/23743735221077535
- By:
- Publication type:
- Article
A Novel L1 Linker Mutation in DES Resulted in Total Absence of Protein.
- Published in:
- Journal of Molecular Neuroscience, 2021, v. 71, n. 12, p. 2468, doi. 10.1007/s12031-021-01856-0
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- Publication type:
- Article
Clinical, Biochemical, Radiological, and Genetic Profile of Patients with Homocysteine Remethylation Pathway Defect and Spastic Paraplegia.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 6, p. 908, doi. 10.4103/aian.AIAN_223_21
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- Publication type:
- Article
Cryptococal Meningitis Presenting as Acute Cerebellar Syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Case Report: Post-Chikungunya–Associated Myeloneuropathy.
- Published in:
- American Journal of Tropical Medicine & Hygiene, 2021, v. 105, n. 4, p. 942, doi. 10.4269/ajtmh.20-1277
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- Publication type:
- Article
Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis.
- Published in:
- Children, 2021, v. 8, n. 10, p. 1, doi. 10.3390/children8100909
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- Publication type:
- Article
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
- Published in:
- Neurogenetics, 2021, v. 22, n. 4, p. 271, doi. 10.1007/s10048-021-00658-1
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- Publication type:
- Article
Amide proton transfer imaging for differentiation of tuberculomas from high-grade gliomas: Preliminary experience.
- Published in:
- Neuroradiology Journal, 2021, v. 34, n. 5, p. 440, doi. 10.1177/19714009211002766
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- Publication type:
- Article
Lead Encephalopathy with Distinctive Brain Magnetic Resonance Imaging Findings.
- Published in:
- 2021
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- Publication type:
- Case Study
Comparison of The Carrier Frequency of Pathogenic Variants of DMD Gene in an Indian Cohort.
- Published in:
- Journal of Neuromuscular Diseases, 2021, v. 8, n. 4, p. 525, doi. 10.3233/JND-210658
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- Publication type:
- Article
Novel variants broaden the phenotypic spectrum of PLEKHG5‐associated neuropathies.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 4, p. 1344, doi. 10.1111/ene.14649
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- Publication type:
- Article
Myelin oligodendrocyte glycoprotein-antibody-associated disorder: a new inflammatory CNS demyelinating disorder.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 4, p. 1419, doi. 10.1007/s00415-020-10300-z
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- Publication type:
- Article
Utility of Immunohistochemistry and Western Blot in Profiling Clinically Suspected Cases of Congenital Muscular Dystrophy.
- Published in:
- Annals of Indian Academy of Neurology, 2021, v. 24, n. 2, p. 198, doi. 10.4103/aian.AIAN_18_20
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- Publication type:
- Article
Whole‐exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
- Published in:
- European Journal of Neurology, 2021, v. 28, n. 3, p. 992, doi. 10.1111/ene.14616
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- Publication type:
- Article
Schooling of Children with Duchenne Muscular Dystrophy: Experiences from a Tertiary Care Center in India.
- Published in:
- School Social Work Journal (Illinois Association of School Social Workers), 2021, v. 45, n. 2, p. 21
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- Publication type:
- Article
Palliative care in duchenne muscular dystrophy: A study on parents' understanding.
- Published in:
- Indian Journal of Palliative Care, 2021, v. 27, n. 1, p. 146, doi. 10.4103/IJPC.IJPC_259_20
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- Publication type:
- Article