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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jun 10, 2023. (Total: 217827Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Abnormalities and MFN2[original query]
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations.
Archives of neurology 2009 Dec 66 (12): 1511-6.
Calvo Judith, Funalot Benoît, Ouvrier Robert A, Lazaro Leila, Toutain Annick, De Mas Philippe, Bouche Pierre, Gilbert-Dussardier Brigitte, Arne-Bes Marie-Christine, Carrière Jean-Pierre, Journel Hubert, Minot-Myhie Marie-Christine, Guillou Claire, Ghorab Karima, Magy Laurent, Sturtz Franck, Vallat Jean-Michel, Magdelaine Corin
The allelic spectrum of Charcot-Marie-Tooth disease in over 17,000 individuals with neuropathy.
Molecular genetics & genomic medicine 2014 Nov 2 (6): 522-9.
DiVincenzo Christina, Elzinga Christopher D, Medeiros Adam C, Karbassi Izabela, Jones Jeremiah R, Evans Matthew C, Braastad Corey D, Bishop Crystal M, Jaremko Malgorzata, Wang Zhenyuan, Liaquat Khalida, Hoffman Carol A, York Michelle D, Batish Sat D, Lupski James R, Higgins Joseph
Underestimated associated features in CMT neuropathies: clinical indicators for the causative gene?
Brain and behavior 2016 Mar e00451.
Werheid Friederike, Azzedine Hamid, Zwerenz Eva, Bozkurt Ahmet, Moeller Marcus J, Lin Lilian, Mull Michael, Häusler Martin, Schulz Jörg B, Weis Joachim, Claeys Kristl
Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients.
Neuromuscular disorders : NMD 2017 11 28 (1): 38-43.
Milley György Máté, Varga Edina Timea, Grosz Zoltán, Nemes Csilla, Arányi Zsuzsanna, Boczán Judit, Diószeghy Péter, Molnár Mária Judit, Gál Ani
Cerebellar White Matter Abnormalities in Charcot-Marie-Tooth Disease: A Combined Volumetry and Diffusion Tensor Imaging Analysis.
Journal of clinical medicine 2021 11 10 (21): .
Hwang Sungeun, Park Chang-Hyun, Kim Regina Eun-Young, Kim Hyeon Jin, Choi Yun Seo, Kim Sol-Ah, Yoo Jeong Hyun, Chung Ki Wha, Choi Byung-Ok, Lee Hyang Wo
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