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106 results

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Page 1
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. Kosmanopoulos G, et al. Among authors: walk d. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025
Primary lateral sclerosis: consensus diagnostic criteria.
Turner MR, Barohn RJ, Corcia P, Fink JK, Harms MB, Kiernan MC, Ravits J, Silani V, Simmons Z, Statland J, van den Berg LH; Delegates of the 2nd International PLS Conference; Mitsumoto H. Turner MR, et al. J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):373-377. doi: 10.1136/jnnp-2019-322541. Epub 2020 Feb 6. J Neurol Neurosurg Psychiatry. 2020. PMID: 32029539 Free PMC article.
Restabilization treatment after intravenous immunoglobulin withdrawal in chronic inflammatory demyelinating polyneuropathy: Results from the pre-randomization phase of the Polyneuropathy And Treatment with Hizentra study.
Mielke O, Bril V, Cornblath DR, Lawo JP, van Geloven N, Hartung HP, Lewis RA, Merkies ISJ, Sobue G, Durn B, Shebl A, van Schaik IN; PATH study group. Mielke O, et al. J Peripher Nerv Syst. 2019 Mar;24(1):72-79. doi: 10.1111/jns.12303. Epub 2019 Mar 1. J Peripher Nerv Syst. 2019. PMID: 30672067 Free PMC article.
Correction to: A double-blind, placebo-controlled, randomized trial of PXT3003 for the treatment of Charcot-Marie-Tooth type 1A.
Attarian S, Young P, Brannagan TH, Adams D, Van Damme P, Thomas FP, Casanovas C, Kafaie J, Tard C, Walter MC, Péréon Y, Walk D, Stino A, de Visser M, Verhamme C, Amato A, Carter G, Magy L, Statland JM, Felice K. Attarian S, et al. Among authors: walk d. Orphanet J Rare Dis. 2024 Apr 1;19(1):142. doi: 10.1186/s13023-024-03110-3. Orphanet J Rare Dis. 2024. PMID: 38561848 Free PMC article. No abstract available.
Guidance for clinical management of pathogenic variant carriers at elevated genetic risk for ALS/FTD.
Benatar M, Heiman-Patterson TD, Cooper-Knock J, Brickman D, Casaletto KB, Goutman SA, Vinceti M, Dratch L, Arias JJ, Swidler J, Turner MR, Shefner J, Westeneng HJ, van den Berg LH, Al-Chalabi A; Attendees of the Workshop on Guidance for Clinical Care of People Living with a Pathogenic Variant At-Risk for ALS and FTD; Attendees of the Workshop on Guidance for Clinical Care of People living with a pathogenic variant At-Risk for ALS and FTD. Benatar M, et al. J Neurol Neurosurg Psychiatry. 2024 Nov 21:jnnp-2024-334339. doi: 10.1136/jnnp-2024-334339. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39572211 Free article. Review.
Evidence-based consensus guidelines for ALS genetic testing and counseling.
Roggenbuck J, Eubank BHF, Wright J, Harms MB, Kolb SJ; ALS Genetic Testing and Counseling Guidelines Expert Panel. Roggenbuck J, et al. Ann Clin Transl Neurol. 2023 Nov;10(11):2074-2091. doi: 10.1002/acn3.51895. Epub 2023 Sep 10. Ann Clin Transl Neurol. 2023. PMID: 37691292 Free PMC article.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Among authors: walk d. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
The natural history of ALS: Baseline characteristics from a multicenter clinical cohort.
Berger A, Locatelli M, Arcila-Londono X, Hayat G, Olney N, Wymer J, Gwathmey K, Lunetta C, Heiman-Patterson T, Ajroud-Driss S, Macklin EA, Bind MA, Goslin K, Stuchiner T, Brown L, Bazan T, Regan T, Adamo A, Ferment V, Schroeder C, Somers M, Manousakis G, Faulconer K, Sinani E, Mirochnick J, Yu H, Sherman AV, Walk D; Pooled Resource Open-Access ALS Clinical Trials Consortium. Berger A, et al. Among authors: walk d. Amyotroph Lateral Scler Frontotemporal Degener. 2023 Jul 17:1-9. doi: 10.1080/21678421.2023.2232812. Online ahead of print. Amyotroph Lateral Scler Frontotemporal Degener. 2023. PMID: 37461167
106 results