Results 141 to 150 of about 16,402 (224)

Hereditary spastic paraplegia: a novel mutation and expansion of the phenotype variability in SPG10. [PDF]

, 2014
Babalini, C, Carosi, L, Di Lullo, M, Gaudiello, F, Kawarai, T, Lo Giudice, T, Lombardi, F, Marfia, G, Massa, R, Orlacchio, A   +9 more
core   +2 more sources

Children with Genetically Confirmed Hereditary Spastic Paraplegia: A Single-Center Experience. [PDF]

Children (Basel)
Besen S, Özkale Y, Özkale M, Bozdoğan ST, Alkan Ö, Ceylaner S, Erol İ.   +6 more
europepmc   +1 more source

Identification of myokymia in adult-onset hereditary spastic paraplegia type 79A: Implications for the phenotypic spectrum. [PDF]

eNeurologicalSci
Toyoda N, Komiya H, Miyaji Y, Nishihama S, Takeda M, Asano T, Hashiguchi S, Takahashi K, Higashiyama Y, Fujita A, Matsumoto N, Doi H, Tanaka F.   +12 more
europepmc   +1 more source

Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias: Table 1 [PDF]

, 2003
Evan Reid
openalex   +1 more source

Hereditary Spastic Paraplegia Type 26 with a Novel Mutation in B4GALNT1 Gene and Literature Review of the Clinical Features

, 2023
Faruk İncecik, Ozlem M. Herguner, Sevcan Tug Bozdogan   +2 more
openalex   +1 more source

A Novel Frameshift Variant in the SPAST Gene Causing Hereditary Spastic Paraplegia in a Bulgarian-Turkish Family. [PDF]

Neurol Int
Levkova M, Tsalta-Mladenov M, Kaprelyan A.   +2 more
europepmc   +1 more source

Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes [PDF]

, 2019
Ewelina Elert‐Dobkowska, Iwona Stępniak, Wioletta Krysa, Karolina Ziora-Jakutowicz, Maria Rakowicz, Anna Sobańska, Jacek Pilch, Dorota Antczak‐Marach, Jacek Zaremba, Anna Sułek   +9 more
openalex   +1 more source

Artificial intelligence in genomics: transforming the diagnosis of hereditary spastic paraplegia. [PDF]

Ann Med Surg (Lond)
Nizami HA, Rafiq A, Khalid M, Waafira A.
europepmc   +1 more source

Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia [PDF]

, 2019
Mohammad Ali Farazi Fard, Adriana Rebelo, Elena Buglo, Hamid Nemati, Hassan Dastsooz, Ina Gehweiler, Selina Reich, Jennifer Reichbauer, Beatriz Quintáns, Andrés Ordóñez‐Ugalde, Andrea Cortese, Steve Courel, Lisa Abreu, Eric Powell, Matt C. Danzi, Nicole Belliard Martuscelli, Dana M. Bis‐Brewer, Feifei Tao, Fariba Zarei, Parham Habibzadeh, Majid Yavarian, Farzaneh Modarresi, Mohammad Silawi, Zahra Tabatabaei, Masoume Yousefi, Hamid Reza Farpour, Christoph Keßler, Elisabeth Mangold, Xenia Kobeleva, Ivailo Tournev, Teodora Chamova, Amelie J. Mueller, Tobias B. Haack, Mark A. Tarnopolsky, Ziv Gan‐Or, Guy A. Rouleau, Matthis Synofzik, María-Jesús Sobrido, Albena Jordanova, Rebecca Schüle, Stephan Züchner, Mohammad Ali Faghihi   +41 more
openalex   +1 more source

Strumpellin is a novel valosin-containing protein (VCP/p97)-binding partner linking hereditary spastic paraplegia to protein aggregation diseases [PDF]

, 2010
Tangavelou, Karthikeyan
core