E-LIB Suche - Ergebnisse für: Kennerson, Marina

1

A deep intronic variant in MME causes autosomal recessive C..:

Grosz, Bianca R. ; Parmar, Jevin M. ; Ellis, Melina...
Journal of the Peripheral Nervous System. 29 (2024) 2 - p. 262-274 , 2024

Link: https://doi.org/10.1111/..

2

An Update on the Adult-Onset Hereditary Cerebellar Ataxias:..:

Rudaks, Laura Ivete ; Yeow, Dennis ; Ng, Karl...
The Cerebellum. , 2024

Link: https://doi.org/10.1007/..

3

A missense mutation in human INSC causes peripheral neuropa..:

Yeh, Jui-Yu ; Chao, Hua-Chuan ; Hong, Cheng-Li...
EMBO Molecular Medicine. 16 (2024) 5 - p. 1091-1114 , 2024

Link: https://doi.org/10.1038/..

4

C. elegans model of riboflavin transporter deficiency (RTD)..:

Narayanan, Ramesh K. ; Perez-siles, Gonzalo ; Marzec, Kamila A....
Genes & Diseases. 11 (2024) 4 - p. 101071 , 2024

Link: https://doi.org/10.1016/..

5

Genome sequencing reanalysis increases the diagnostic yield..:

Fellner, Avi ; Wali, Gurusidheshwar M. ; Mahant, Neil...
Parkinsonism & Related Disorders. 124 (2024) - p. 107010 , 2024

Link: https://doi.org/10.1016/..

6

Genetics of inherited peripheral neuropathies and the next ..:

Parmar, Jevin M ; Laing, Nigel G ; Kennerson, Marina L.
Journal of Neurology, Neurosurgery & Psychiatry. , 2024

Link: https://doi.org/10.1136/..

7

An Inversion Affecting the GCH1 Gene as a Novel Finding in ..:

El‐Wahsh, Shadi ; Fellner, Avi ; Hobbs, Matthew...
Movement Disorders Clinical Practice. 11 (2024) 5 - p. 582-585 , 2024

Link: https://doi.org/10.1002/..

8

Advances and challenges in modeling inherited peripheral ne..:

Van Lent, Jonas ; Prior, Robert ; Pérez Siles, Gonzalo...
Experimental & Molecular Medicine. 56 (2024) 6 - p. 1348-1364 , 2024

Link: https://doi.org/10.1038/..

9

A recurrent missense variant in ITPR3 causes demyelinating ..:

Beijer, Danique ; Dohrn, Maike F ; Rebelo, Adriana...
Brain. , 2024

Link: https://doi.org/10.1093/..

10

Case report: Incomplete penetrance of autosomal dominant my..:

Musa, Nurul Huda ; Thilakavathy, Karuppiah ; Mohamad, Nur Afiqah...
Frontiers in Genetics. 13 (2023) - p. , 2023

Link: https://doi.org/10.3389/..

11

Upper and lower limb tremor in Charcot–Marie–Tooth neuropat..:

Silsby, Matthew ; Yiannikas, Con ; Fois, Alessandro F....
Journal of Neurology. 271 (2023) 4 - p. 1776-1786 , 2023

Link: https://doi.org/10.1007/..

12

A humanized yeast model reveals dominant-negative propertie..:

Meyer-Schuman, Rebecca ; Marte, Sheila ; Smith, Tyler J...
Human Molecular Genetics. 32 (2023) 13 - p. 2177-2191 , 2023

Link: https://doi.org/10.1093/..

13

Two New Families and a Literature Review of ELOVL4-Associat..:

Nishide, Masahiro ; Le Marquand, Kathleen ; Davis, Mark R....
The Cerebellum. , 2023

Link: https://doi.org/10.1007/..

14

Structural Variation at a Disease Mutation Hotspot: Strateg..:

Boyling, Alexandra ; Perez-Siles, Gonzalo ; Kennerson, Marina L.
Frontiers in Genetics. 13 (2022) - p. , 2022

Link: https://doi.org/10.3389/..

15

Long read sequencing overcomes challenges in the diagnosis ..:

Grosz, Bianca R. ; Stevanovski, Igor ; Negri, Sara...
Journal of the Peripheral Nervous System. 27 (2022) 2 - p. 120-126 , 2022

Link: https://doi.org/10.1111/..