Houlden, David A.
323  Ergebnisse:
Personensuche X
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5

Progression of atypical parkinsonian syndromes: PROSPECT-M-..:

Street, Duncan ; Jabbari, Edwin ; Costantini, Alyssa...
https://discovery.ucl.ac.uk/id/eprint/10167470/1/awad105.pdf.  , 2023
 
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6

Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropath..:

Ronco, Riccardo ; Perini, Cecilia ; Currò, Riccardo...
https://discovery.ucl.ac.uk/id/eprint/10158601/1/e543.full.pdf.  , 2023
 
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8

TEFM variants impair mitochondrial transcription causing ch..:

Van Haute, Lindsey ; O'Connor, Emily ; Díaz-Maldonado, Héctor...
https://discovery.ucl.ac.uk/id/eprint/10165686/1/s41467-023-36277-7.pdf.  , 2023
 
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9

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Maroofian , R , Kaiyrzhanov , R , Cali , E , Zamani , M , Zaki , M S , Ferla , M , Tortora , D , Sadeghian , S , Saadi , S M , Abdullah , U , Ghayoor Karimiani , E , Efthymiou , S , Yeşil , G , Alavi , S , Al Shamsi , A M , Tajsharghi , H , Abdel-Hamid , M S , Saadi , N W , Al Mutairi , F , Alabdi , L , Beetz , C , Ali , Z , Toosi , M B , Rudnik-Schöneborn , S , Babaei , M , Isohanni , P , Muhammad , J , Sheraz , K , Al Shalan , M , Hickey , S E , Marom , D , Elhanan , E , Kurian , M A , Marafi , D , Saberi , A , Hamid , M , Spaull , R , Meng , L , Lalani , S , Maqbool , S , Rahman , F , Seeger , J , Palculict , T B , Lau , T , Murphy , D , Mencacci , N E , Steindl , K , Begemann , A , Rauch , A , Akbas , S , Dilruba , A A , Salpietro , V , Yousaf , H , Ben-Shachar , S , Ejeskär , K , Al Aqeel , A I , High , F A , Armstrong-Javors , A E , Zahraei , S M , Seifi , T , Zeighami , J , Shariati , G , Sedaghat , A , Asl , S N , Shahrooei , M , Zifarelli , G , Burg....  , 2023
 
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10

Leukoencephalopathy caused by a 17p13.3 microdeletion:

Wade, Charles ; Williams, Thomas ; Labrum, Robyn...
https://discovery.ucl.ac.uk/id/eprint/10177596/1/jnnp-2023-331986.full.pdf.  , 2023
 
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11

Functional genomics provide key insights to improve the dia..:

Chen, Zhongbo ; Tucci, Arianna ; Cipriani, Valentina...
https://discovery.ucl.ac.uk/id/eprint/10163233/7/Houlden_awad009.pdf.  , 2023
 
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12

Ceroid lipofuscinosis type 5: novel pathogenic variants and..:

Paiva, Anderson Rodrigues Brandão de ; Pessoa, André Luiz Santos ; Nóbrega, Paulo Ribeiro...
https://discovery.ucl.ac.uk/id/eprint/10166685/2/Lynch_ceroid%20lipofuscinosis%20type%205%2027.06.2022.pdf.  , 2023
 
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14

Endogenous recapitulation of Alzheimer's disease neuropatho..:

Sun, Zhao ; Kwon, Ji-Sun ; Ren, Yudong...
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10245934/.  , 2023
 
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15

Neuromuscular disease genetics in under-represented populat..:

Wilson, Lindsay A ; Macken, William L ; Perry, Luke D...
https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdf.  , 2023
 
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