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Pelizaeus-Merzbacher disease, atypical

MedGen UID:
155958
Concept ID:
C0751915
Disease or Syndrome
Synonyms: Atypical Pelizaeus Merzbacher Disease; Atypical Pelizaeus-Merzbacher Disease; Pelizaeus Merzbacher Disease, Atypical; Pelizaeus-Merzbacher Disease, Atypical
 
OMIM®: 300401

Recent clinical studies

Etiology

Rizzuto N, Pennelli N, Giordano R
Acta Neuropathol 1976 Mar 30;34(3):267-71. doi: 10.1007/BF00688680. PMID: 1266582

Diagnosis

Dimartino P, Zadorozhna M, Yumiceba V, Basile A, Cani I, Melo US, Henck J, Breur M, Tonon C, Lodi R, Brusco A, Pippucci T, Koufi FD, Boschetti E, Ramazzotti G, Manzoli L, Ratti S, Pinto E Vairo F, Delatycki MB, Vaula G, Cortelli P, Bugiani M, Spielmann M, Giorgio E
Ann Neurol 2024 Nov;96(5):855-870. Epub 2024 Jul 30 doi: 10.1002/ana.27038. PMID: 39078102
Hoffman-Zacharska D, Kmieć T, Poznański J, Jurek M, Bal J
Brain Dev 2013 Oct;35(9):877-80. Epub 2012 Dec 14 doi: 10.1016/j.braindev.2012.10.018. PMID: 23245814
Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ
Brain 2005 Apr;128(Pt 4):743-51. Epub 2005 Feb 2 doi: 10.1093/brain/awh409. PMID: 15689360

Clinical prediction guides

Labonne JD, Graves TD, Shen Y, Jones JR, Kong IK, Layman LC, Kim HG
BMC Neurol 2016 Aug 9;16:132. doi: 10.1186/s12883-016-0642-z. PMID: 27506666Free PMC Article
Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ
Brain 2005 Apr;128(Pt 4):743-51. Epub 2005 Feb 2 doi: 10.1093/brain/awh409. PMID: 15689360

Supplemental Content

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