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Results by year

Year	Number of Results
1971	2
1975	7
1976	6
1977	6
1978	4
1979	13
1980	2
1981	5
1982	4
1983	5
1984	11
1985	13
1986	9
1987	4
1988	7
1989	11
1990	16
1991	20
1992	18
1993	30
1994	15
1995	25
1996	24
1997	30
1998	26
1999	26
2000	32
2001	28
2002	40
2003	26
2004	31
2005	30
2006	48
2007	47
2008	52
2009	55
2010	47
2011	42
2012	70
2013	75
2014	66
2015	77
2016	69
2017	78
2018	73
2019	73
2020	81
2021	84
2022	96
2023	93
2024	32

1,586 results

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Page 1

PCYT2 deficiency in Saarlooswolfdogs with progressive retinal, central, and peripheral neurodegeneration.

Christen M, Oevermann A, Rupp S, Vaz FM, Wever EJM, Braus BK, Jagannathan V, Kehl A, Hytönen MK, Lohi H, Leeb T. Christen M, et al. Mol Genet Metab. 2024 Mar;141(3):108149. doi: 10.1016/j.ymgme.2024.108149. Epub 2024 Jan 21. Mol Genet Metab. 2024. PMID: 38277988 Free article.

Progressive degeneration in a new Drosophila model of Spinocerebellar Ataxia type 7.

Sujkowski AL, Ranxhi B, Prifti MV, Alam N, Todi SV, Tsou WL. Sujkowski AL, et al. Res Sq [Preprint]. 2023 Nov 23:rs.3.rs-3592641. doi: 10.21203/rs.3.rs-3592641/v1. Res Sq. 2023. PMID: 38045332 Free PMC article. Preprint.

Progressive degeneration in a new Drosophila model of Spinocerebellar Ataxia type 7.

Sujkowski AL, Ranxhi B, Prifti MV, Alam N, Todi SV, Tsou WL. Sujkowski AL, et al. bioRxiv [Preprint]. 2023 Nov 11:2023.11.07.566106. doi: 10.1101/2023.11.07.566106. bioRxiv. 2023. PMID: 37986914 Free PMC article. Preprint.

Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

Kaiyrzhanov R, Rad A, Lin SJ, Bertoli-Avella A, Kallemeijn WW, Godwin A, Zaki MS, Huang K, Lau T, Petree C, Efthymiou S, Karimiani EG, Hempel M, Normand EA, Rudnik-Schöneborn S, Schatz UA, Baggelaar MP, Ilyas M, Sultan T, Alvi JR, Ganieva M, Fowler B, Aanicai R, Tayfun GA, Al Saman A, Alswaid A, Amiri N, Asilova N, Shotelersuk V, Yeetong P, Azam M, Babaei M, Monajemi GB, Mohammadi P, Samie S, Banu SH, Pinto Basto J, Kortüm F, Bauer M, Bauer P, Beetz C, Garshasbi M, Issa AH, Eyaid W, Ahmed H, Hashemi N, Hassanpour K, Herman I, Ibrohimov S, Abdul-Majeed BA, Imdad M, Isrofilov M, Kaiyal Q, Khan S, Kirmse B, Koster J, Lourenço CM, Mitani T, Moldovan O, Murphy D, Najafi M, Pehlivan D, Rocha ME, Salpietro V, Schmidts M, Shalata A, Mahroum M, Talbeya JK, Taylor RW, Vazquez D, Vetro A, Waterham HR, Zaman M, Schrader TA, Chung WK, Guerrini R, Lupski JR, Gleeson J, Suri M, Jamshidi Y, Bhatia KP, Vona B, Schrader M, Severino M, Guille M, Tate EW, Varshney GK, Houlden H, Maroofian R. Kaiyrzhanov R, et al. Brain. 2024 Apr 4;147(4):1436-1456. doi: 10.1093/brain/awad380. Brain. 2024. PMID: 37951597 Free PMC article.

A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review.

Xuan X, Ruan J, Wu C, Gao Y, Li L, Lei X. Xuan X, et al. CNS Neurosci Ther. 2024 Mar;30(3):e14425. doi: 10.1111/cns.14425. Epub 2023 Nov 6. CNS Neurosci Ther. 2024. PMID: 37927170 Free PMC article.

A New Phenotype of TUBB4A Mutation in a Family With Adult-Onset Progressive Spastic Paraplegia and Isolated Hypomyelination Leukodystrophy: A Case Report and Literature Review.

Hsieh PC, Yu PS, Fan WL, Wang CC, Chao CY, Wu YR. Hsieh PC, et al. J Mov Disord. 2024 Jan;17(1):94-98. doi: 10.14802/jmd.23142. Epub 2023 Oct 23. J Mov Disord. 2024. PMID: 37867417 Free PMC article.

Progressive Mitochondrial Encephalopathy Due to the Novel Compound Heterozygous Variants c.182C>T and c.446A>AG in NARS2: A Case Report.

Finsterer J, Mehri S. Finsterer J, et al. Cureus. 2023 Aug 23;15(8):e43969. doi: 10.7759/cureus.43969. eCollection 2023 Aug. Cureus. 2023. PMID: 37746452 Free PMC article.

An Atypical Presentation of Progressive Multiple Sclerosis in a Young Black Male.

Franks C Jr, Eylon A, Carrion A, Bassa R. Franks C Jr, et al. Cureus. 2023 Sep 18;15(9):e45496. doi: 10.7759/cureus.45496. eCollection 2023 Sep. Cureus. 2023. PMID: 37727844 Free PMC article.

Generation and characterization of a knock-in mouse model for spastic tetraplegia, thin corpus callosum, and progressive microcephaly (SPATCCM).

Ratz-Mitchem ML, Leary G, Grindeland A, Silvius D, Guter J, Kavanaugh MP, Gunn TM. Ratz-Mitchem ML, et al. Mamm Genome. 2023 Dec;34(4):572-585. doi: 10.1007/s00335-023-10013-4. Epub 2023 Aug 29. Mamm Genome. 2023. PMID: 37642681

Clinical Reasoning: A 48-Year-Old Man With Spasticity and Progressive Ataxia.

Vizcarra JA, Paul RA, Hamedani AG, Lynch DR, Aamodt WW. Vizcarra JA, et al. Neurology. 2023 Oct 24;101(17):e1747-e1752. doi: 10.1212/WNL.0000000000207658. Epub 2023 Aug 18. Neurology. 2023. PMID: 37596043 Review.

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