Works matching DE "FAMILIAL spastic paraplegia"

Results: 1035

Diagnostic value of the motor band sign in amyotrophic lateral sclerosis: a 7T magnetic resonance imaging study.

Published in:

Translational Neurodegeneration, 2025, v. 14, n. 1, p. 1, doi. 10.1186/s40035-025-00491-8

By:

Huang, Xunyan;
Zhang, Zhe;
Chen, Lin;
Yang, Shuo;
Liu, Xinyao;
Bi, Jingfeng;
Zhang, Zaiqiang;
Wang, Yongjun;
Wei, Ning;
Zhu, Wanlin;
Chen, Na;
Hua, Lin;
Li, Yuan;
Wang, Yilong;
Jing, Jing;
Pan, Hua

Publication type:

Article

Autosomal dominant myopathy caused by a novel ISCU variant.

Published in:

Frontiers in Genetics, 2025, p. 1, doi. 10.3389/fgene.2025.1605440

By:

Rusecka, Joanna M.;
Ceccatelli Berti, Camilla;
Szczęśniak, Dominika;
Bednarska-Makaruk, Małgorzata;
Mroczek, Magdalena;
Kacprzak, Magdalena M.;
Sobczyńska-Tomaszewska, Agnieszka;
Goffrini, Paola

Publication type:

Article

Genetic Evaluation of Patients with Clinically Suspected Hereditary Spastic Paraplegia with Seven Novel Variants.

Published in:

Annals of Indian Academy of Neurology, 2025, v. 28, n. 3, p. 353, doi. 10.4103/aian.aian_1068_24

By:

Özdemir, Taha Reşid;
Gençpınar, Pınar;
Sarıteke, Roza;
Dagdas, Safa M;
Haspolat, Senay;
Tiftikcioglu, Bedile I;
Dündar, Nihal Olgaç;
Özyılmaz, Berk

Publication type:

Article

Hereditary Spastic Paraplegia Linked to Abnormal Splicing From an AIMP1 Missense Variant.

Published in:

Clinical Genetics, 2025, v. 107, n. 6, p. 668, doi. 10.1111/cge.14690

By:

Morais, Sara;
Leal Loureiro, José;
Brandão, Eva;
Sequeiros, Jorge;
Stevanin, Giovanni;
Santos, Mariana

Publication type:

Article

Outcome measures of instrumented gait analysis in hereditary spastic paraplegia: a systematic review.

Published in:

Journal of NeuroEngineering & Rehabilitation (JNER), 2025, v. 22, n. 1, p. 1, doi. 10.1186/s12984-025-01646-4

By:

Koch, Veronika;
Ibrahim, Alzhraa;
Winkler, Juergen;
Eskofier, Bjoern;
Regensburger, Martin;
Gassner, Heiko

Publication type:

Article

A Japanese patient with hereditary spastic paraplegia with a rare KIF5A nonsense variant.

Published in:

Human Genome Variation, 2025, v. 12, n. 1, p. 1, doi. 10.1038/s41439-025-00313-3

By:

Miura, Shiroh;
Suenaga, Seria;
Goto, Hana;
Wang, Zhaonan;
Makino, Akane;
Fan, Luoming;
Senzaki, Kensuke;
Ochi, Masayuki;
Ohyagi, Yasumasa;
Shibata, Hiroki

Publication type:

Article

Case Report: Hereditary spastic paraplegia associated with monoallelic variant in the motor domain of KIF1A.

Published in:

Frontiers in Human Neuroscience, 2025, p. 1, doi. 10.3389/fnhum.2025.1568511

By:

Sine, Kathryn;
Brodie-Mends, David;
Chouhani, Wafae;
Massingham, Lauren;
Alhusaini, Saud

Publication type:

Article

IMPC impact on preclinical mouse models.

Published in:

Mammalian Genome, 2025, v. 36, n. 2, p. 384, doi. 10.1007/s00335-025-10104-4

By:

Hölter, Sabine M.;
Cacheiro, Pilar;
Smedley, Damian;
Kent Lloyd, K. C.

Publication type:

Article

A Rare Homozygous AP4S1 Variant in Rwandan Siblings with Autosomal Recessive Hereditary Spastic Paraplegia Type 52 (SPG52).

Published in:

Genes, 2025, v. 16, n. 5, p. 542, doi. 10.3390/genes16050542

By:

Niyoyita, Sylvine;
Uwibambe, Esther;
Ndinkabandi, Janvier;
Sesonga, Placide;
Niyongere, Josse Belladone;
Tuyishimire, Benjamin;
Urugwiro, Adelaide;
Rwamatwara, Alype;
Isingizwe, Gisèle;
Mutamuliza, Janvière;
Nsanzabaganwa, Christian;
Bukuru, John;
Rutagarama, Florent;
Mukaruziga, Agnès;
Karangwa, Osée;
Ndatinya, Augustin;
Nsanzabera, Maurice;
Dukuze, Norbert;
Mutesa, Léon

Publication type:

Article

Phenotypic Spectrum of KATNIP -Associated Joubert Syndrome: Possible Association with Esophageal Atresia and Review of the Literature.

Published in:

2025

By:

Tedesco, Maria Giovanna;
Donati, Ilaria;
Romeo, Chiara;
Dal Bo, Sara;
Nardini, Chiara;
Innoceta, Anna Maria;
Parmeggiani, Giulia;
Patanè, Anna;
Graziano, Claudio

Publication type:

Case Study

Novel Compound Heterozygous SACS Mutations in a Case with a Spasticity-Lacking Phenotype of Sacsin-Related Ataxia.

Published in:

2021

By:

Chen, You;
Cen, Zhidong;
Zheng, Xiaosheng;
Chen, Si;
Xie, Fei;
Luo, Wei

Publication type:

Case Study

Enigma of tropical spastic paraplegia.

Published in:

2020

By:

Gourie-Devi, M

Publication type:

journal article

The second mutation of SYCE1 gene associated with autosomal recessive nonobstructive azoospermia.

Published in:

Journal of Assisted Reproduction & Genetics, 2020, v. 37, n. 2, p. 451, doi. 10.1007/s10815-019-01660-1

By:

Pashaei, Mahdieh;
Rahimi Bidgoli, Mohammad Masoud;
Zare-Abdollahi, Davood;
Najmabadi, Hossein;
Haji-Seyed-Javadi, Ramona;
Fatehi, Farzad;
Alavi, Afagh

Publication type:

Article

A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09880-0

By:

Jin, Yu-Han;
Xiang, Yang-Ziyu;
Zhao, Mei-Fang;
Liu, Yi-Hui;
Fan, Liang-Liang;
Li, Xiao-Cong

Publication type:

Article

Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco–Sjögren syndrome patients.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09746-5

By:

Faheem, Ali;
Masud, Rizwan;
Nasir, Rabea;
Awan, Zeeshan Khalid;
Nasir, Hammad Ali;
Khan, Zara Khalid;
Fayyaz, Hajra;
Raza, Syed Irfan

Publication type:

Article

Identifying genetic defects in oculocutaneous albinism patients of West Bengal, Eastern India.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09777-y

By:

Dutta, Tithi;
Ganguly, Kausik;
Saha, Arpan;
Sil, Asim;
Ray, Kunal;
Sengupta, Mainak

Publication type:

Article

Identification of a novel intronic variant of ATP6V0A2 in a Han-Chinese family with cutis laxa.

Published in:

Molecular Biology Reports, 2024, v. 51, n. 1, p. 1, doi. 10.1007/s11033-024-09446-0

By:

Zhang, Ying;
Sun, Mei;
Li, Na;
Zhao, Yiran;
Zhang, Fang;
Shu, Jianbo;
Liu, Yang;
Cai, Chunquan

Publication type:

Article

Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene.

Published in:

2018

By:

Nadol Jr., Joseph B.;
Hedley-Whyte, E. Tessa;
Amr, Sami Samir;
O'Malley, Jennifer T.;
Kamakura, Takefumi;
Nadol, Joseph B Jr;
Hedley-Whyte, E Tessa;
Amr, Sami Samir;
O Apos Malley, Jennifer T

Publication type:

journal article

Yop1 stability and membrane curvature generation propensity are controlled by its oligomerisation interface.

Published in:

Biochemical Journal, 2024, v. 481, n. 20, p. 1437, doi. 10.1042/BCJ20240190

By:

Chandran, Anu V.;
Álvarez, Daniel;
Vanni, Stefano;
Schnell, Jason R.

Publication type:

Article

Hereditary hemochromatosis promotes colitis and colon cancer and causes bacterial dysbiosis in mice.

Published in:

Biochemical Journal, 2020, v. 477, n. 19, p. 3867, doi. 10.1042/BCJ20200392

By:

Sivaprakasam, Sathish;
Ristic, Bojana;
Mudaliar, Nithya;
Hamood, Abdul N.;
Colmer-Hamood, Jane;
Wachtel, Mitchell S.;
Nevels, Anna G.;
Kottapalli, Kameswara R.;
Ganapathy, Vadivel

Publication type:

Article

Genetic analysis of albinism caused by compound heterozygous mutations of the OCA2 gene in a Chinese family.

Published in:

Hereditas, 2024, v. 161, p. 1, doi. 10.1186/s41065-024-00312-4

By:

Wang, Yanan;
Chang, Yujie;
Gao, Mingya;
Zang, Weiwei;
Liu, Xiaofei

Publication type:

Article

A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome.

Published in:

Journal of Clinical Medicine, 2019, v. 8, n. 1, p. 17, doi. 10.3390/jcm8010017

By:

Filosto, Massimiliano;
Piccinelli, Stefano Cotti;
Palmieri, Ilaria;
Necchini, Nicola;
Valente, Marialuisa;
Zanella, Isabella;
Biasiotto, Giorgio;
Lorenzo, Diego Di;
Cereda, Cristina;
Padovani, Alessandro

Publication type:

Article

Novel SPAST Deletion Mutation in an American Family With Hereditary Spastic Paraplegia: A Case Report.

Published in:

Journal of Investigative Medicine High Impact Case Reports, 2025, p. 1, doi. 10.1177/23247096251323173

By:

Bhopatkar, Sydney B.;
Huang, Juebin

Publication type:

Article

Novel insights into the genetic profile of hereditary spastic paraplegia in India.

Published in:

Journal of Neurogenetics, 2022, v. 36, n. 1, p. 21, doi. 10.1080/01677063.2022.2064463

By:

Narendiran, Sundarapandian;
Debnath, Monojit;
Shivaram, Sumanth;
Kannan, Ramakrishnan;
Sharma, Shivani;
Christopher, Rita;
Seshagiri, Doniparthi V.;
Jain, Sanjeev;
Purushottam, Meera;
Mangalore, Sandhya;
Bharath, Rose Dawn;
Bindu, Parayil Sankaran;
Sinha, Sanjib;
Taly, Arun B.;
Nagappa, Madhu

Publication type:

Article

Description of clinical features and genetic analysis of one ultra-rare (SPG64) and two common forms (SPG5A and SPG15) of hereditary spastic paraplegia families.

Published in:

Journal of Neurogenetics, 2021, v. 35, n. 2, p. 84, doi. 10.1080/01677063.2021.1895146

By:

Pashaei, Mahdieh;
Davarzani, Atefeh;
Hajati, Reza;
Zamani, Babak;
Nafissi, Shahriar;
Larti, Farzaneh;
Nilipour, Yalda;
Rohani, Mohammad;
Alavi, Afagh

Publication type:

Article

High diagnostic yield and novel variants in very late-onset spasticity.

Published in:

Journal of Neurogenetics, 2019, v. 33, n. 1, p. 27, doi. 10.1080/01677063.2019.1566326

By:

Almomen, Momen;
Martens, Kristina;
Quadir, Asfia;
Pontifex, Carly Sabine;
Hanson, Alexandra;
Korngut, Lawrence;
Pfeffer, Gerald

Publication type:

Article

Targeted Long‐Read Sequencing as a Single Assay Improves the Diagnosis of Spastic‐Ataxia Disorders.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 4, p. 832, doi. 10.1002/acn3.70008

By:

Rudaks, Laura Ivete;
Stevanovski, Igor;
Yeow, Dennis;
Reis, Andre L. M.;
Chintalaphani, Sanjog R.;
Cheong, Pak Leng;
Gamaarachchi, Hasindu;
Worgan, Lisa;
Ahmad, Kate;
Hayes, Michael;
Hannaford, Andrew;
Kim, Samuel;
Fung, Victor S. C.;
Halmagyi, Gabor M.;
Martin, Andrew;
Manser, David;
Tchan, Michel;
Ng, Karl;
Kennerson, Marina L.;
Deveson, Ira W.

Publication type:

Article

Heterozygous variants in AP4S1 are not associated with a neurological phenotype.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 4, p. 851, doi. 10.1002/acn3.52302

By:

Quiroz, Vicente;
Zubair, Umar;
Schierbaum, Luca;
Tam, Amy;
Battaglia, Nicole;
Rong, Joshua;
Agianda, Habibah A. P.;
Alecu, Julian E.;
Yang, Kathryn;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

Expanding molecular and clinical spectrum of CPT1C‐associated hereditary spastic paraplegia (SPG73)—a case series.

Published in:

Annals of Clinical & Translational Neurology, 2025, v. 12, n. 3, p. 648, doi. 10.1002/acn3.52288

By:

Brooks, Alexandra K.;
Quiroz, Vicente;
Schierbaum, Luca;
Tam, Amy;
Alecu, Julian E.;
Ebrahimi‐Fakhari, Darius

Publication type:

Article

A pseudo‐homozygous missense variant and Alu‐mediated exon 5 deletion in FARS2 causing spastic paraplegia 77.

Published in:

2024

By:

Lin, Shu‐Huai;
Xie, Jun‐Hao;
Jiang, Jun‐Yi;
Yan, Xin‐Yu;
Hong, Chao‐Yin;
Chen, Wan‐Jin;
Wang, Ning;
Lin, Xiang

Publication type:

Case Study

Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1909, doi. 10.1002/acn3.52113

By:

Hsiao, Cheng‐Tsung;
Tsai, Tzu‐Yun;
Shen, Ting‐Yi;
Tsai, Yu‐Shuen;
Liao, Yi‐Chu;
Lee, Yi‐Chung;
Tsai, Pei‐Chien

Publication type:

Article

Late‐onset Krabbe disease presenting as spastic paraplegia – implications of GCase and CTSB/D.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1715, doi. 10.1002/acn3.52078

By:

Mächtel, Rebecca;
Dobert, Jan‐Philipp;
Hehr, Ute;
Weiss, Alexander;
Kettwig, Matthias;
Laugwitz, Lucia;
Groeschel, Samuel;
Schmidt, Manuel;
Arnold, Philipp;
Regensburger, Martin;
Zunke, Friederike

Publication type:

Article

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 4, p. 1067, doi. 10.1002/acn3.52037

By:

Qiu, Yusen;
Xiong, Ying;
Wang, Lulu;
Zhu, Min;
Tan, Dandan;
Hong, Daojun

Publication type:

Article

Dystonia, spastic tetraplegia, and ataxia due to a novel mutation in the dynamin domain of OPA1.

Published in:

Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 800, doi. 10.1002/acn3.51981

By:

Shi, YuZhi;
Zhang, Kang;
Dong, GeHong;
Pan, Hua;
Chen, Bin;
Wang, An;
Niu, SongTao;
Wang, XinGao;
Zhang, ZaiQiang

Publication type:

Article

A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2139, doi. 10.1002/acn3.51902

By:

Wang, Juan;
Zhao, Rongjuan;
Cao, Hanshuai;
Yin, Zhaoxu;
Ma, Jing;
Xing, Yingming;
Zhang, Wei;
Chang, Xueli;
Guo, Junhong

Publication type:

Article

Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1603, doi. 10.1002/acn3.51850

By:

Chou, Ying‐Tsen;
Hsu, Shao‐Lun;
Tsai, Yu‐Shuen;
Lu, Yi‐Jiun;
Yu, Kai‐Wei;
Wu, Hsiu‐Mei;
Liao, Yi‐Chu;
Lee, Yi‐Chung

Publication type:

Article

Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 9, p. 1590, doi. 10.1002/acn3.51848

By:

Zhou, Xun;
Wang, Yige;
He, Runcheng;
Liu, Zhenhua;
Xu, Qian;
Guo, Jifeng;
Yan, Xinxiang;
Li, Jinchen;
Tang, Beisha;
Zeng, Sheng;
Sun, Qiying

Publication type:

Article

Mobile digital gait analysis objectively measures progression in hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 447, doi. 10.1002/acn3.51725

By:

Loris, Evelyn;
Ollenschläger, Malte;
Greinwalder, Teresa;
Eskofier, Björn;
Winkler, Jürgen;
Gaßner, Heiko;
Regensburger, Martin

Publication type:

Article

Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 353, doi. 10.1002/acn3.51724

By:

Fang, Shih‐Yu;
Chou, Ying‐Tsen;
Hsu, Kuo‐Chou;
Hsu, Shao‐Lun;
Yu, Kai‐Wei;
Tsai, Yu‐Shuen;
Liao, Yi‐Chu;
Tsai, Pei‐Chien;
Lee, Yi‐Chung

Publication type:

Article

PLP1 gene mutations cause spastic paraplegia type 2 in three families.

Published in:

Annals of Clinical & Translational Neurology, 2023, v. 10, n. 3, p. 328, doi. 10.1002/acn3.51722

By:

Yao, Li;
Zhu, Zeyu;
Zhang, Chao;
Tian, Wotu;
Cao, Li

Publication type:

Article

Phenotypic continuum of NFU1‐related disorders.

Published in:

2022

By:

Kaiyrzhanov, Rauan;
Zaki, Maha S.;
Lau, Tracy;
Sen, Sambuddha;
Azizimalamiri, Reza;
Zamani, Mina;
Sayin, Gözde Yeşil;
Hilander, Taru;
Efthymiou, Stephanie;
Chelban, Viorica;
Brown, Ruth;
Thompson, Kyle;
Scarano, Maria Irene;
Ganesh, Jaya;
Koneev, Kairgali;
Gülaçar, Ismail Musab;
Person, Richard;
Sadykova, Dinara;
Maidyrov, Yerdan;
Seifi, Tahereh

Publication type:

Case Study

New phenotype of RTN2‐related spectrum: Complicated form of spastic paraplegia‐12.

Published in:

2022

By:

Tian, Wotu;
Zheng, Haoran;
Zhu, Zeyu;
Zhang, Chao;
Luan, Xinghua;
Cao, Li

Publication type:

Case Study

Novel CAPN1 missense variants in complex hereditary spastic paraplegia with early‐onset psychosis.

Published in:

2022

By:

Alecu, Julian E.;
Saffari, Afshin;
Jumo, Hellen;
Ziegler, Marvin;
Strelko, Oleksandr;
Brownstein, Catherine A.;
Gonzalez‐Heydrich, Joseph;
Rodan, Lance H.;
Gorman, Mark P.;
Sahin, Mustafa;
Ebrahimi‐Fakhari, Darius

Publication type:

Case Study

Characteristics of serum neurofilament light chain as a biomarker in hereditary spastic paraplegia type 4.

Published in:

Annals of Clinical & Translational Neurology, 2022, v. 9, n. 3, p. 326, doi. 10.1002/acn3.51518

By:

Kessler, Christoph;
Serna‐Higuita, Lina Maria;
Wilke, Carlo;
Rattay, Tim W.;
Hengel, Holger;
Reichbauer, Jennifer;
Stransky, Elke;
Leyva‐Gutiérrez, Alejandra;
Mengel, David;
Synofzik, Matthis;
Schöls, Ludger;
Martus, Peter;
Schüle, Rebecca

Publication type:

Article

The case of a 51‐year‐old man with 15 years of progressive leg spasticity.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 6, p. 1362, doi. 10.1002/acn3.51380

By:

Larson, Danielle N.

Publication type:

Article

Neurofilament light chain is a cerebrospinal fluid biomarker in hereditary spastic paraplegia.

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 5, p. 1122, doi. 10.1002/acn3.51358

By:

Kessler, Christoph;
Serna‐Higuita, Lina M.;
Rattay, Tim W.;
Maetzler, Walter;
Wurster, Isabel;
Hayer, Stefanie;
Wilke, Carlo;
Hengel, Holger;
Reichbauer, Jennifer;
Armbruster, Marcel;
Schöls, Ludger;
Martus, Peter;
Schüle, Rebecca

Publication type:

Article

Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Published in:

Annals of Clinical & Translational Neurology, 2021, v. 8, n. 4, p. 994, doi. 10.1002/acn3.51332

By:

Sikora, Jakub;
Jedlickova, Ivana;
Pristoupilova, Anna;
Stranecky, Viktor;
Honzik, Tomas

Publication type:

Article

Multimodal evaluation of an Italian family with a hereditary spastic paraplegia and POLR3A mutations.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 11, p. 2326, doi. 10.1002/acn3.51221

By:

Ruggiero, Lucia;
Iovino, Aniello;
Dubbioso, Raffaele;
Cocozza, Sirio;
Trovato, Rosanna;
Aruta, Francesco;
Pontillo, Giuseppe;
Barghigiani, Melissa;
Brunetti, Arturo;
Santorelli, Filippo Maria;
Manganelli, Fiore;
Iodice, Rosa

Publication type:

Article

The case of a 37‐year‐old male with trouble ambulating and incontinence.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2072, doi. 10.1002/acn3.51180

By:

Bega, Danny

Publication type:

Article

Novel CAPN1 mutations extend the phenotypic heterogeneity in combined spastic paraplegia and ataxia.

Published in:

Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 1862, doi. 10.1002/acn3.51169

By:

Lai, Lu‐Lu;
Chen, Yi‐Jun;
Li, Yun‐Lu;
Lin, Xiao‐Hong;
Wang, Meng‐Wen;
Dong, En‐Lin;
Wang, Ning;
Chen, Wan‐Jin;
Lin, Xiang

Publication type:

Article