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PubMed for id: 1778117
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PTRH2 is Necessary for Purkinje Cell Differentiation and Survival and its Loss Recapitulates Progressive Cerebellar Atrophy and Ataxia Seen in IMNEPD Patients.
Cerebellum. 2023 Dec;22(6):1137-1151. doi: 10.1007/s12311-022-01488-z. Epub 2022 Oct 11.
Cerebellum. 2023.
PMID: 36219306
Free PMC article.
Diabetes mellitus in an adolescent girl with intellectual disability caused by novel single base pair duplication in the PTRH2 gene: Expanding the clinical spectrum of IMNEPD.
Parida P, Dubbudu A, Biswal SR, Sharawat IK, Panda PK.
Parida P, et al.
Brain Dev. 2021 Feb;43(2):314-319. doi: 10.1016/j.braindev.2020.09.009. Epub 2020 Oct 20.
Brain Dev. 2021.
PMID: 33092935
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Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.
Le C, Prasad AN, Rupar CA, Debicki D, Andrade A, Prasad C.
Le C, et al.
Can J Neurol Sci. 2019 Jul;46(4):459-463. doi: 10.1017/cjn.2019.35. Epub 2019 May 6.
Can J Neurol Sci. 2019.
PMID: 31057140
Review.
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Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.
Picker-Minh S, Mignot C, Doummar D, Hashem M, Faqeih E, Josset P, Dubern B, Alkuraya FS, Kraemer N, Kaindl AM.
Picker-Minh S, et al.
Orphanet J Rare Dis. 2016 Apr 29;11(1):52. doi: 10.1186/s13023-016-0433-z.
Orphanet J Rare Dis. 2016.
PMID: 27129381
Free PMC article.
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