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1 . Academic Journal
CAG repeat expansion in the SCA7 in Korean families presenting clinical features compatible with ADCA type II
저자
by
Lyoo, Chul Hyoung
;
Hur, Kyung
;
Choi, Young Chul
;
Lee, Sung Chul
;
Stevanin, Giovanni
, et al.
소스
Journal of the Korean Neurological Association
. 16(3):341-352
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7 . Academic Journal
Decreasing ganglioside synthesis delays motor and cognitive symptom onset in Spg11 knockout mice
저자
by
Fortier, Manon
;
Cauhapé, Margaux
;
Buono, Suzie
;
Becker, Julien
;
Menuet, Alexia
, et al.
소스
In
Neurobiology of Disease
September 2024 199
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7 . Academic Journal
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
저자
by
Méreaux, Jean-Loup
;
Davoine, Claire-Sophie
;
Pellerin, David
;
Coarelli, Giulia
;
Coutelier, Marie
, et al.
소스
In
eBioMedicine
January 2024 99
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7 . Academic Journal
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
저자
by
Abbott, Kristin M.
;
Banka, Siddharth
;
de Boer, Elke
;
Ciolfi, Andrea
;
Clayton-Smith, Jill
, et al.
소스
In
Genetics in Medicine
April 2023 25(4)
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7 . Academic Journal
CNS-associated T-lymphocytes in a mouse model of Hereditary Spastic Paraplegia type 11 (SPG11) are therapeutic targets for established immunomodulators
저자
by
Hörner, Michaela
;
Groh, Janos
;
Klein, Dennis
;
Ilg, Winfried
;
Schöls, Ludger
, et al.
소스
In
Experimental Neurology
September 2022 355
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7 . Academic Journal
Mutations in DDHD1, encoding a phospholipase A1, is a novel cause of retinopathy and neurodegeneration with brain iron accumulation
저자
by
Dard, Rodolphe
;
Meyniel, Claire
;
Touitou, Valérie
;
Stevanin, Giovanni
;
Lamari, Foudil
, et al.
소스
In
European Journal of Medical Genetics
December 2017 60(12):639-642
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7 . Academic Journal
Clinically approved immunomodulators ameliorate behavioral changes in a mouse model of hereditary spastic paraplegia type 11.
저자
by
Hörner, Michaela
;
Popp, Sandy
;
Branchu, Julien
;
Stevanin, Giovanni
;
Darios, Frédéric
, et al.
소스
Frontiers in Neuroscience; 2024, p1-19, 19p
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7 . Academic Journal
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
저자
by
Ung, Dévina C.
;
Pietrancosta, Nicolas
;
Badillo, Elena Baz
;
Raux, Brigitt
;
Tapken, Daniel
, et al.
소스
Molecular Psychiatry
. 29(4):1205-1215
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7 . Periodical
Clinical phenotyping and genetic diagnosis of a large cohort of Sudanese families with hereditary spinocerebellar degenerations
저자
by
Yahia, Ashraf
;
Hamed, Ahlam A. A.
;
Mohamed, Inaam N.
;
Elseed, Maha A.
;
Salih, Mustafa A.
, et al.
소스
European Journal of Human Genetics: EJHG; 20240101, Issue: Preprints p1-13, 13p
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7 . Academic Journal
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage.
저자
by
Martins, Sandra
;
Yahia, Ashraf
;
Costa, Inês P. D.
;
Siddig, Hassab E.
;
Abubaker, Rayan
, et al.
소스
Human Genetics
. Dec2023, Vol. 142 Issue 12, p1747-1754. 8p.
Web of Science
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