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  1. Article ; Online: Collagen XII-Related Myopathy: An Emerging Spectrum of Extracellular Matrix-Related Myopathy.

    Padmanabha, Hansashree / Arunachal, Gautham / Kishore, Pratik / Sharma, P Praveen / Mailankody, Pooja / Mahale, Rohan R / Nashi, Saraswati / Mathuranath, P S / Chandra, Sadanandavalli R

    Neurology India

    2024  Volume 71, Issue 6, Page(s) 1257–1259

    Abstract: Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have ...

    Abstract Collagen XII, a member of a protein family called fibril associated collagen with interrupted triple helices (FACIT), is an important component of extracellular matrix and is essential for bridging the neighbouring fibrils. Mutations in collagen XII have been recently described to cause a rare extracellular matrix-related myopathy in those whose phenotype resembles collagen VI-related dystrophies and were negative for pathogenic variants in COL6A genes. The authors report a 4-year old girl presented with a phenotype mimicking Ullrich congenital muscular dystrophy and genetically confirmed to have pathogenic variants in COL12A1 gene thus, expanding the phenotypic spectrum of COL12A1-related myopathy.
    MeSH term(s) Female ; Humans ; Child, Preschool ; Collagen Type XII/genetics ; Collagen Type XII/metabolism ; Muscular Diseases/pathology ; Muscular Dystrophies/congenital ; Collagen/genetics ; Extracellular Matrix/genetics ; Extracellular Matrix/metabolism ; Extracellular Matrix/pathology ; Mutation/genetics
    Chemical Substances Collagen Type XII ; Collagen (9007-34-5)
    Language English
    Publishing date 2024-01-04
    Publishing country India
    Document type Case Reports
    ZDB-ID 415522-1
    ISSN 1998-4022 ; 0028-3886
    ISSN (online) 1998-4022
    ISSN 0028-3886
    DOI 10.4103/0028-3886.391402
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    Zs.A 698: Show issues Location:
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  2. Article: Autoimmune Antibodies Positivity in Probable Sporadic Creutzfeldt-Jakob Disease: A Mini-Review of Literature.

    Anudeep, Davuluri Durga Srinivas / Padmanabha, Hansashree / Mailankody, Pooja / Mathuranath, P S / Mahale, Rohan Ramachandra

    Annals of Indian Academy of Neurology

    2023  Volume 26, Issue 5, Page(s) 822–825

    Language English
    Publishing date 2023-10-13
    Publishing country India
    Document type Journal Article
    ZDB-ID 2240174-X
    ISSN 1998-3549 ; 0972-2327
    ISSN (online) 1998-3549
    ISSN 0972-2327
    DOI 10.4103/aian.aian_613_23
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Anti-GAD antibodies associated autoimmunity presenting as isolated dementia: an expansion of GAD antibody-spectrum disorders.

    Mahale, Rohan R / Rajeevan, Srinath / Sivaprakash, S / Padmanabha, Hansashree / Mailankody, Pooja / Mathuranath, P

    Acta neurologica Belgica

    2022  Volume 123, Issue 2, Page(s) 657–659

    MeSH term(s) Humans ; Autoimmunity ; Autoantibodies ; Dementia/diagnosis ; Glutamate Decarboxylase
    Chemical Substances Autoantibodies ; Glutamate Decarboxylase (EC 4.1.1.15)
    Language English
    Publishing date 2022-03-28
    Publishing country Italy
    Document type Letter
    ZDB-ID 127315-2
    ISSN 2240-2993 ; 0300-9009
    ISSN (online) 2240-2993
    ISSN 0300-9009
    DOI 10.1007/s13760-022-01937-w
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  4. Article ; Online: Delayed Cervical Dystonia with Tremors in a Patient with Wernicke Encephalopathy: An Expansion of Complication.

    Mahale, Rohan R / Patwardan, Ameya / Mailankody, Pooja / Padmanabha, Hansashree / Mathuranath, P S

    Neurology India

    2022  Volume 70, Issue 4, Page(s) 1720–1721

    MeSH term(s) Humans ; Thiamine ; Torticollis ; Tremor/etiology ; Wernicke Encephalopathy/complications ; Wernicke Encephalopathy/diagnosis
    Chemical Substances Thiamine (X66NSO3N35)
    Language English
    Publishing date 2022-09-08
    Publishing country India
    Document type Letter
    ZDB-ID 415522-1
    ISSN 1998-4022 ; 0028-3886
    ISSN (online) 1998-4022
    ISSN 0028-3886
    DOI 10.4103/0028-3886.355168
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  5. Article: ANCA-associated Vasculitic Neuropathy Following Anti-SARS-CoV-2 Vaccination: An Epiphenomenon or Causal Association?

    Jha, Shreyashi / Hema, A V / Padmanabha, Hansashree / Mahadevan, Anitha / Mailankody, Pooja / Mathuranath, P S / Mahale, Rohan R

    Annals of Indian Academy of Neurology

    2023  Volume 26, Issue 2, Page(s) 187–189

    Language English
    Publishing date 2023-01-04
    Publishing country India
    Document type Journal Article
    ZDB-ID 2240174-X
    ISSN 1998-3549 ; 0972-2327
    ISSN (online) 1998-3549
    ISSN 0972-2327
    DOI 10.4103/aian.aian_848_22
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article ; Online: Episodic ataxia in child with 16p11.2 deletion including PRRT2.

    Padmanabha, Hansashree / Raghavendra, K / Arunachal, Gautham / Nagaraj, A R / Harishma, R S / Nashi, Saraswati / Pooja, M / Mathuranath, P S / Mahale, Rohan

    Parkinsonism & related disorders

    2023  Volume 118, Page(s) 105955

    MeSH term(s) Child ; Humans ; Ataxia/genetics ; Mutation ; Chromosome Deletion ; Membrane Proteins/genetics ; Nerve Tissue Proteins/genetics
    Chemical Substances PRRT2 protein, human ; Membrane Proteins ; Nerve Tissue Proteins
    Language English
    Publishing date 2023-12-09
    Publishing country England
    Document type Letter
    ZDB-ID 1311489-x
    ISSN 1873-5126 ; 1353-8020
    ISSN (online) 1873-5126
    ISSN 1353-8020
    DOI 10.1016/j.parkreldis.2023.105955
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  7. Article: Rare Encephalitis-Like Presentation of a Pediatric Patient with Dual Positive Aquaporin-4 and Myelin Oligodendrocyte Antibodies: A Case Report with Review of Literature.

    Dhar, Debjyoti / Mahadevan, Anita / Nagaraj, A R / Mahale, Rohan / Prasad, Chandrajit / Shreedevi, Athyadi U / Mailankody, Pooja / Mathuranath, P S / Padmanabha, Hansashree

    Annals of Indian Academy of Neurology

    2023  Volume 26, Issue 6, Page(s) 1021–1024

    Language English
    Publishing date 2023-10-31
    Publishing country India
    Document type Journal Article
    ZDB-ID 2240174-X
    ISSN 1998-3549 ; 0972-2327
    ISSN (online) 1998-3549
    ISSN 0972-2327
    DOI 10.4103/aian.aian_689_23
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article ; Online: Adult-Onset Ischemic Moyamoya Disease: Reasoning and Decision-Making.

    Mailankody, Pooja / Pruthi, Nupur / Kulanthaivelu, Karthik / Mahale, Rohan / Padmanabha, Hansashree / Mathuranath, P S / Dubbal, Rohin

    Neurology India

    2023  Volume 71, Issue 5, Page(s) 1065–1067

    MeSH term(s) Adult ; Humans ; Moyamoya Disease/diagnostic imaging ; Stroke ; Brain Ischemia/diagnostic imaging ; Brain Ischemia/etiology ; Ischemia
    Language English
    Publishing date 2023-11-01
    Publishing country India
    Document type Letter
    ZDB-ID 415522-1
    ISSN 1998-4022 ; 0028-3886
    ISSN (online) 1998-4022
    ISSN 0028-3886
    DOI 10.4103/0028-3886.388102
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Upbeat Nystagmus in Late Onset Cerebellar Ataxia: Think of Anti-Glutamate Decarboxylase 65 Antibody-Associated Cerebellar Ataxia.

    Mahale, Rohan R / Dutta, Debayan / Kovoor, Jennifer / Mailankody, Pooja / Padmanabha, Hansashree / Mathuranath, P S

    Annals of Indian Academy of Neurology

    2021  Volume 24, Issue 3, Page(s) 441–443

    Language English
    Publishing date 2021-02-10
    Publishing country India
    Document type Journal Article
    ZDB-ID 2240174-X
    ISSN 1998-3549 ; 0972-2327
    ISSN (online) 1998-3549
    ISSN 0972-2327
    DOI 10.4103/aian.AIAN_470_20
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Isolated mitochondrial myopathy due to m.3243A > G mutation in MT-TL1 gene.

    Mahale, Rohan R / Gautham, Jyothi / Mailankody, Pooja / Padmanabha, Hansashree / Mathuranath, P S

    Acta neurologica Belgica

    2021  Volume 122, Issue 4, Page(s) 1115–1116

    MeSH term(s) DNA, Mitochondrial/genetics ; Humans ; MELAS Syndrome ; Mutation/genetics
    Chemical Substances DNA, Mitochondrial
    Language English
    Publishing date 2021-01-23
    Publishing country Italy
    Document type Letter
    ZDB-ID 127315-2
    ISSN 2240-2993 ; 0300-9009
    ISSN (online) 2240-2993
    ISSN 0300-9009
    DOI 10.1007/s13760-021-01598-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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