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  1. Article ; Online: Late-onset spastic-ataxia due to KIF1C mutation: broadening the SPG 58 phenotype.

    Mahale, Rohan / Padmanabha, Hansashree / Mailankody, Pooja / Pavagada, Mathuranath

    Acta neurologica Belgica

    2023  

    Language English
    Publishing date 2023-11-17
    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/s13760-023-02437-1
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Early-onset levodopa responsive parkinsonism in PPP2R5D mutation.

    Mahale, Rohan / Arunachal, Gautham / Chadha, Deepak / Padmanabha, Hansashree / M, Pooja / Pavagada, Mathuranath

    Parkinsonism & related disorders

    2024  Volume 123, Page(s) 106952

    Language English
    Publishing date 2024-04-04
    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.2024.106952
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article: Levodopa Non-Responsive Parkinsonism in Tuberculous Cerebral Arteritis: A Rare Occurrence.

    Mahale, Rohan / Pon, Arun Gokul / Sandeep, M / Padmanabha, Hansashree / Mailankody, Pooja / Pavagada, Mathuranath

    Annals of Indian Academy of Neurology

    2022  Volume 25, Issue 3, Page(s) 519–520

    Language English
    Publishing date 2022-01-12
    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_561_21
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Spastic Ataxia with Sensory Neuropathy Sans Cerebral Leukodystrophy in Probable Adult Polyglucosan Body Disease.

    Mahale, Rohan / Shashi, Sridhar / Mahadevan, Anitha / Singh, Raviprakash / Potluri, Vivek / Padmanabha, Hansashree / Mailankody, Pooja / Pavagada, Mathuranath S

    Annals of Indian Academy of Neurology

    2023  Volume 26, Issue 6, Page(s) 1030–1032

    Language English
    Publishing date 2023-11-07
    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_725_23
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: ADCY5-Related Dyskinesia: A Genetic Cause of Early-Onset Chorea-Report of Two Cases and a Novel Mutation.

    Padmanabha, Hansashree / Ray, Somdattaa / Mahale, Rohan / Arunachal, Gautham / Singhi, Pratibha / Mailankody, Pooja / Pavagada, Mathuranath

    Annals of Indian Academy of Neurology

    2021  Volume 24, Issue 5, Page(s) 837–838

    Language English
    Publishing date 2021-03-27
    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_1012_20
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with

    Mahale, Rohan R / Gautam, Jyothi / Arunachal, Gautam / Alappati, Sandhya / Varghese, Nibu / Kovoor, Jennifer / Mailankody, Pooja / Padmanabha, Hansashree / Pavagada, Mathuranath

    Journal of pediatric neurosciences

    2021  Volume 16, Issue 2, Page(s) 153–155

    Abstract: MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause ... ...

    Abstract MTHFR enzyme deficiency is an autosomal-recessive inborn error of folate metabolism. The deficiency cause defect in the remethylation of homocysteine to methionine leading to increased blood levels of homocysteine. Hyperhomocysteinemia in infants cause seizures, hypotonia, apnoea, microcephaly, progressing to coma and death if untreated whereas in childhood onset it causes developmental delay, seizures, psychiatric disturbances, spastic gait, and ataxia. We report a 10-year-old girl with rapidly progressive spastic paraplegia requiring wheelchair ambulation within 3 months of symptom onset with behavioral disturbances. Plasma homocysteine and plasma lactate were high with normal vitamin B12 levels. Clinical exome sequencing showed homozygous missense mutation in
    Language English
    Publishing date 2021-07-12
    Publishing country India
    Document type Case Reports
    ISSN 1817-1745
    ISSN 1817-1745
    DOI 10.4103/jpn.JPN_96_20
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Stroke-like episodes with cerebellar ataxia as presenting manifestation of adult-onset anti-N-methyl D-aspartate receptor encephalitis: an unusual presentation.

    Mahale, Rohan / Farsana, M K / Mahadevan, Anitha / Mukherjee, Joydeep / Lakshmi, Vathsala / Sandeep, M / Padmanabha, Hansashree / Mailankody, Pooja / Pavagada, Mathuranath

    Acta neurologica Belgica

    2021  Volume 121, Issue 4, Page(s) 1093–1095

    MeSH term(s) Anti-N-Methyl-D-Aspartate Receptor Encephalitis/complications ; Anti-N-Methyl-D-Aspartate Receptor Encephalitis/diagnostic imaging ; Anti-N-Methyl-D-Aspartate Receptor Encephalitis/drug therapy ; Cerebellar Ataxia/diagnostic imaging ; Cerebellar Ataxia/drug therapy ; Cerebellar Ataxia/etiology ; Diagnosis, Differential ; Glucocorticoids/administration & dosage ; Humans ; Male ; Methylprednisolone/administration & dosage ; Middle Aged ; Stroke/diagnostic imaging ; Stroke/drug therapy ; Stroke/etiology
    Chemical Substances Glucocorticoids ; Methylprednisolone (X4W7ZR7023)
    Language English
    Publishing date 2021-07-03
    Publishing country Italy
    Document type Case Reports ; Letter
    ZDB-ID 127315-2
    ISSN 2240-2993 ; 0300-9009
    ISSN (online) 2240-2993
    ISSN 0300-9009
    DOI 10.1007/s13760-021-01735-w
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  8. Article: Granulomatous Panuveitis in Multiple Sclerosis: A Rare Occurrence.

    Shah, Rutul / Mahale, Rohan R / Babu, Kalpana / Shah, Dhwani / Vincent, Manu / Nanda, Satabdi / Sangeeth, T A / Sriram, Neeharika / Tiwari, Ravindu / Padmanabha, Hansashree / Mailankody, Pooja / Pavagada, Mathuranath S

    Annals of Indian Academy of Neurology

    2022  Volume 25, Issue 2, Page(s) 296–298

    Language English
    Publishing date 2022-02-01
    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_356_21
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article: Autosomal Dominant Cerebral Small Vessel Disease in

    Mahale, Rohan R / Agarwal, Aakash / Gautam, Jyothi / Varghese, Nibu / Kovoor, Jennifer / Mailankody, Pooja / Padmanabha, Hansashree / Pavagada, Mathuranath

    Annals of Indian Academy of Neurology

    2020  Volume 24, Issue 2, Page(s) 297–299

    Language English
    Publishing date 2020-10-07
    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_381_20
    Database MEDical Literature Analysis and Retrieval System OnLINE

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