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Items: 10

Select item 76743321.

Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

Grace McMacken, Hanns Lochmüller, Boglarka Bansagi, Angela Pyle, Angela Lochmüller, Patrick F. Chinnery, Steve Laurie, Sergi Beltran, Leslie Matalonga, Rita Horvath

J Neurol. 2020; 267(12): 3643–3649. Published online 2020 Jul 12. doi: 10.1007/s00415-020-10059-3

PMCID:: PMC7674332

Article PDF–1012K

Select item 74693032.

Concurrent OPA1 mutation and chromosome 3q deletion leading to Behr syndrome: a case report

Ting Zeng, Linyan Liao, Yi Guo, Xuxu Liu, Xiaobo Xiong, Yu Zhang, Shi Cen, Honghui Li, Shuzhang Wei

BMC Pediatr. 2020; 20: 420. Published online 2020 Sep 3. doi: 10.1186/s12887-020-02309-0

PMCID:: PMC7469303

Article PDF–992K

Select item 49186083.

Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1

JINHO LEE, SUNG-CHUL JUNG, YOUNG BIN HONG, JEONG HYUN YOO, HEASOO KOO, JA HYUN LEE, HYUN DAE HONG, SANG-BEOM KIM, KI WHA CHUNG, BYUNG-OK CHOI

Mol Med Rep. 2016 Jul; 14(1): 33–40. Published online 2016 May 4. doi: 10.3892/mmr.2016.5209

PMCID:: PMC4918608

Article PDF–995K

Select item 92230204.

Biallelic Optic Atrophy 1 (OPA1) Related Disorder—Case Report and Literature Review

Bayan Al Othman, Jia Ern Ong, Alina V. Dumitrescu

Genes (Basel) 2022 Jun; 13(6): 1005. Published online 2022 Jun 2. doi: 10.3390/genes13061005

PMCID:: PMC9223020

Article PDF–10M

Select item 103968375.

产前诊断Joubert综合征一例并文献复习

Hong WEN, Lu CHEN, Kai YAN, Jing HE

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2017 Jun 25; 46(3): 274–278. Chinese. doi: 10.3785/j.issn.1008-9292.2017.06.08

PMCID:: PMC10396837

Article PDF–595K

Select item 68080296.

Prenatal diagnosis of Machado‐Joseph disease/spinocerebellar ataxia type 3 in Taiwan: Early detection of expanded ataxin‐3

Hui‐Fang Tsai, Chin‐San Liu, Gin‐Den Chen, Mei‐Ling Lin, Chuan Li, Yi‐Yun Chen, Bao‐Tyan Wang, Mingli Hsieh

J Clin Lab Anal. 2003; 17(5): 195–200. Published online 2003 Aug 18. doi: 10.1002/jcla.10092

PMCID:: PMC6808029

Article PDF–142K

Select item 67725437.

Reduced Voltage Sensitivity of Activation of P/Q-Type Ca²⁺ Channels is Associated with the Ataxic Mouse MutationRolling Nagoya (tg^rol)

Yasuo Mori, Minoru Wakamori, Sen-ichi Oda, Colin F. Fletcher, Naomi Sekiguchi, Emiko Mori, Neal G. Copeland, Nancy A. Jenkins, Kaori Matsushita, Zenjiro Matsuyama, Keiji Imoto

J Neurosci. 2000 Aug 1; 20(15): 5654–5662. doi: 10.1523/JNEUROSCI.20-15-05654.2000