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Select item 116497561.

Giant axonal neuropathy (GAN): cross-sectional data on phenotypes, genotypes, and proteomic signature from a German cohort

Andrea Gangfuß, Guido Goj, Silke Polz, Adela Della Marina, Andreas Hentschel, Katja Ahlbory, Timo Deba, Urania Kotzaeridou, Elisabeth Schuler, Astrid Pechmann, Uta Diebold, Gerhard Kurlemann, Lucas Heinzkyll, Dirk Schmitt, Kevin Rostasy, Tobias Ruck, Johann Böhm, Andreas Roos, Ulrike Schara-Schmidt

J Neurol. 2025; 272(1): 63. Published online 2024 Dec 16. doi: 10.1007/s00415-024-12744-z

PMCID:: PMC11649756

Abstract Article PDF–898K

Select item 116309302.

Resolution of acute motor axonal neuropathy in a patient after treatment with efgartigimod: A case report

Jinli Zhou, Weifei Yu, Siqi Ding, Chanhong Shi, Hui Liang

Medicine (Baltimore) 2024 Dec 6; 103(49): e40700. Published online 2024 Dec 6. doi: 10.1097/MD.0000000000040700

PMCID:: PMC11630930

Abstract Article PDF–403K

Select item 116259923.

Clinical and genetic features of CMT2T in Italian patients confirm the importance of MME pathogenic variants in idiopathic, late‐onset axonal neuropathies

Alessandro Geroldi, Andrea La Barbera, Alessia Mammi, Paola Origone, Andrea Gaudio, Clarissa Ponti, Francesca Sanguineri, Sabrina Matà, Martina Sperti, Ilaria Carboni, Emilia Bellone, Fabio Gotta, Chiara Gemelli, Sara Massucco, Guglielmino Valeria, Lucio Marinelli, Marina Grandis, Giulia Bisogni, Mario Sabatelli, Giuseppe Piscosquito, Gabriella Esposito, Angelo Schenone, Fiore Manganelli, Paola Mandich, Stefano Tozza, Marco Luigetti

J Peripher Nerv Syst. 2024 Dec; 29(4): 472–486. Published online 2024 Sep 9. doi: 10.1111/jns.12657

PMCID:: PMC11625992

Abstract Article PDF–4.0M

Select item 116067314.

An Unusual Presentation of Generalized Tetanus Following Post-Exposure Vaccination Complicated by Acute Motor Sensory Axonal Neuropathy: A Case Report

Chanurdi K Wickramathunga, Philip Anpalahan, Thirunavukkarasu Thivakaran, Shehan Silva

Cureus. 2024 Oct; 16(10): e72734. Published online 2024 Oct 30. doi: 10.7759/cureus.72734

PMCID:: PMC11606731

Abstract Article PDF–1.6M

Select item 115936385.

Small Complex Rearrangement in HINT1-Related Axonal Neuropathy

Alessandra Tessa, Mariapaola Schifino, Eliana Salvo, Rosanna Trovato, Luca Cesana, Silvia Frosini, Rosa Pasquariello, Giada Sgherri, Roberta Battini, Maria Clara Bonaglia, Filippo Maria Santorelli, Guja Astrea

Genes (Basel) 2024 Nov; 15(11): 1483. Published online 2024 Nov 19. doi: 10.3390/genes15111483

PMCID:: PMC11593638

Abstract Article PDF–4.2M

Select item 115855036.

Spinocerebellar Ataxias: Phenotypic Spectrum of PolyQ versus Non-Repeat Expansion Forms

João Moura, Jorge Oliveira, Mariana Santos, Sara Costa, Lénia Silva, Carolina Lemos, José Barros, Jorge Sequeiros, Joana Damásio

Cerebellum. 2024; 23(6): 2258–2268. Published online 2024 Jul 24. doi: 10.1007/s12311-024-01723-9

PMCID:: PMC11585503

Abstract Article PDF–1005K

Select item 115844357.

Report of a novel missense TDP1 variant in a Pakistani family affected with an extremely rare disorder congenital spinocerebellar ataxia with axonal neuropathy type 1 (SCAN1)

Riaz Ahmad, Filza Sayyad, Muhammad Naeem, Henry Houlden

Mol Biol Rep. 2025; 52(1): 7. Published online 2024 Nov 22. doi: 10.1007/s11033-024-10085-8

PMCID:: PMC11584435

Abstract Article PDF–1.2M

Select item 115803748.

Characterization of a novel heterozygous variant in the histidyl‐tRNA synthetase gene associated with Charcot–Marie–Tooth disease type 2W

Sarah D. P. Wilhelm, Angelica A. Moresco, Alberto D. Rivero, Victoria Mok Siu, Ilka U. Heinemann

IUBMB Life. 2024 Dec; 76(12): 1125–1138. Published online 2024 Oct 1. doi: 10.1002/iub.2918

PMCID:: PMC11580374

Abstract Article PDF–4.7M

Select item 115313469.

Postpartum Guillain-Barré Syndrome Presenting as Acute Motor Axonal Neuropathy in a Young Female: A Report of a Rare Case

Muhammad Maqbool, Kuchi Deekshitha, Doddapaneni D Chandana, Zaghum Abbas, Ananya Talukdar, Asma Mehdi

Cureus. 2024 Oct; 16(10): e70787. Published online 2024 Oct 3. doi: 10.7759/cureus.70787

PMCID:: PMC11531346

Abstract Article PDF–123K

Select item 1149967610.

Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations

Ashraf Yahia, Ahlam A. A. Hamed, Inaam N. Mohamed, Maha A. Elseed, Mustafa A. Salih, Sarah M. El-sadig, Hassab Elrasoul Siddig, Ali Elsir Musa Nasreldien, Mohamed Ahmed Abdullah, Maha Elzubair, Farouk Yassen Omer, Aisha Motwakil Bakhiet, Rayan Abubaker, Fatima Abozar, Rawaa Adil, Sara Emad, Mhammed Alhassan Musallam, Isra Z. M. Eltazi, Zulfa Omer, Hiba Malik, Mayada O. E. Mohamed, Ali A. Elhassan, Eman O. E. Mohamed, Ahmed K. M. A. Ahmed, Elhami A. A. Ahmed, Esraa Eltaraifee, Bidour K. Hussein, Amal S. I. Abd Allah, Lina Salah, Mohamed Nimir, Omnia M. Tag Elseed, Tasneem E. A. Elhassan, Abubakr Elbashier, Esraa S. A. Alfadul, Moneeb Fadul, Khalil F. Ali, Shaimaa Omer M. A. Taha, Elfatih E. Bushara, Mutaz Amin, Mahmoud Koko, Muntaser E. Ibrahim, Ammar E. Ahmed, Liena E. O. Elsayed, Giovanni Stevanin

Eur J Hum Genet. 2024 Oct; 32(10): 1214–1226. Published online 2023 Apr 3. doi: 10.1038/s41431-023-01344-6

PMCID:: PMC11499676

Abstract Article PDF–1.4M

Select item 1141481711.

Insights into phenotypic variability caused by GARS1 pathogenic variants

Jesús Jiménez‐Jiménez, Irene Navarrete, Inmaculada Azorín, Pilar Martí, Roger Vílchez, Nuria Muelas, Javier Cabello‐Murgui, Elvira Millet, Juan Francisco Vázquez‐Costa, Juan J. Vílchez, Teresa Sevilla, Rafael Sivera

Eur J Neurol. 2024 Oct; 31(10): e16416. Published online 2024 Jul 25. doi: 10.1111/ene.16416

PMCID:: PMC11414817

Abstract Article PDF–1.6M

Select item 1139840012.

Gigaxonin, mutated in Giant Axonal Neuropathy, interacts with TDP-43 and other RNA binding proteins

Cassandra L. Phillips, Maryam Faridounnia, Rachel A. Battaglia, Baggio A. Evangelista, Todd J. Cohen, Puneet Opal, Thomas W. Bouldin, Diane Armao, Natasha T. Snider

Version 1. bioRxiv. Preprint. 2024 Sep 5. doi: 10.1101/2024.09.03.611033

PMCID:: PMC11398400

Abstract Article PDF–3.6M

Select item 1138628213.

Immune responses to central nervous system directed adeno-associated virus gene therapy: Does direct CNS delivery make a difference?

Ashley L. Harkins, Prajakta P. Ambegaokar, Allison M. Keeler

Neurotherapeutics. 2024 Jul; 21(4): e00435. Published online 2024 Aug 23. doi: 10.1016/j.neurot.2024.e00435

PMCID:: PMC11386282

Abstract Article PDF–762K

Select item 1138572114.

Complete genome sequence of Edwardsiella tarda strain GBS0709 isolated from a Japanese patient with the acute motor axonal neuropathy subtype of Guillain–Barré syndrome

Masayuki Imajoh, Masahiro Mori, Takeshi Shimizu, Yume Koizumi, Yuma Kobayashi, Miyu Kawahara, Masanori Daibata

Microbiol Resour Announc. 2024 Sep; 13(9): e00456-24. Published online 2024 Jul 31. doi: 10.1128/mra.00456-24

PMCID:: PMC11385721

Abstract Article PDF–163K

Select item 1134077915.

Elliot Hernandez, David Dominguez, Raul Medina-Rioja, Victoria Martínez-Angeles, Juan Carlos López-Hernández

Cureus. 2024 Jul; 16(7): e65201. Published online 2024 Jul 23. doi: 10.7759/cureus.65201

PMCID:: PMC11340779

Abstract Article PDF–118K

Select item 1123587716.

Manifestations of X‐linked pyruvate dehydrogenase complex deficiency in female PDHA1 carriers

Antri Savvidou, Kalliopi Sofou, Erik A. Eklund, Johan Aronsson, Niklas Darin

Eur J Neurol. 2024 Jul; 31(7): e16283. Published online 2024 Mar 18. doi: 10.1111/ene.16283

PMCID:: PMC11235877

Abstract Article PDF–902K

Select item 1114947417.

Giant axonal neuropathy

Y. Yang, E. Allen, J. Ding, W. Wang

Cell Mol Life Sci. 2007 Mar; 64(5): 601–609. Published online 2007 Jan 26. doi: 10.1007/s00018-007-6396-4

PMCID:: PMC11149474

Abstract Article PDF–265K

Select item 1112137118.

Identification of a Novel Indel Variant in the DARS2 Gene in Russian Patients with Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation

Fatima M. Bostanova, Polina G. Tsygankova, Elena A. Larshina, Ilya O. Nagornov, Yulia V. Evseeva, Irina L. Krutikhina, Marina E. Dzhentemirova, Marina N. Kashlakova, Marina S. Petukhova, Inna V. Sharkova, Ekaterina Y. Zakharova

Genes (Basel) 2024 May; 15(5): 615. Published online 2024 May 11. doi: 10.3390/genes15050615

PMCID:: PMC11121371

Abstract Article PDF–5.5M

Select item 1110414219.

Axonal neuropathy with unusual clinical course in young Snowshoe cats

J Feline Med Surg. 2018 Aug; 20(8): NP3. Published online 2018 Jun 5. doi: 10.1177/1098612X18782802

Corrects:: J Feline Med Surg. 2009 Dec; 11(12): 1005–1010.

PMCID:: PMC11104142

Correction PDF–310K

Select item 1099864520.

Acute Motor Axonal Neuropathy in Lupus Nephritis

Diljeet Bodra, Amith Vijay Leon D'Souza, Essar Khan

Cureus. 2024 Mar; 16(3): e55603. Published online 2024 Mar 5. doi: 10.7759/cureus.55603

PMCID:: PMC10998645

Abstract Article PDF–93K

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