Search Results - familial spastic paraplegia

Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family by Dandan Yan, Dandan Yan, Shaopei Chen, Fengying Cai, Jianbo Shu, Jianbo Shu, Xiufang Zhi, Xiufang Zhi, Jie Zheng, Jie Zheng, Chunhua Zhang, Dong Li, Chunquan Cai, Chunquan Cai

Connect to this object online.

A novel SPAST gene mutation identified in a Chinese family with hereditary spastic paraplegia by Weiwei Yu, Haiqiang Jin, Jianwen Deng, Ding Nan, Yining Huang

Connect to this object online.

A new family with spastic paraplegia type 51 and novel mutations in AP4E1 by Izabela Winkler, Paweł Miotła, Monika Lejman, Aleksandra Pietrzyk, Magdalena Kacprzak, Marcin Kubiak, Agnieszka Sobczyńska-Tomaszewska, Maciej Skrzypczak, Ilona Jaszczuk

Connect to this object online.

Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction by Carolina Lopes, Fernando Silveira, Goreti Nadais, Miguel Leão

Connect to this object online.

Autosomal dominant hereditary spastic paraplegia: Novel mutations in the <it>REEP1 </it>gene (SPG31) by Epplen Joerg T, Arning Larissa, Schlang Katharina J, Stemmler Susanne

Connect to this object online.

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia by Salma M. Wakil, Safa Alhissi, Haya Al Dossari, Ayesha Alqahtani, Sherin Shibin, Brahim T. Melaiki, Josef Finsterer, Amal Al-Hashem, Saeed Bohlega, Anas M. Alazami

Connect to this object online.

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report by Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang, Hai-Feng Li

Connect to this object online.

Complicated SPG4 presenting with recurrent urinary tract infection by Kinsi Oberoi, Kabir S. Grewal, Leema Reddy Peddareddygari

Connect to this object online.

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report by Carlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, Daniele Frattini, Carlo Fusco

Connect to this object online.

KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease by Ayushi Nair, Alosh Greeny, Rajalakshmi Rajendran, Mohamed A. Abdelgawad, Mohammed M. Ghoneim, Roshni Pushpa Raghavan, Sachithra Thazhathuveedu Sudevan, Bijo Mathew, Hoon Kim

Connect to this object online.

A novel truncated variant in SPAST results in spastin accumulation and defects in microtubule dynamics by Jie Wang, Yihan Wu, Hong Dong, Yunpeng Ji, Lichun Zhang, Yaxian Liu, Yueshi Liu, Xin Gao, Yueqi Jia, Xiaohua Wang

Connect to this object online.