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Houlden, H
1511  results:
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1

Frequency of GAA-FGF14 ataxia in a large cohort of Brazilia..:

Novis, L.E. ; Frezatti, R. ; Pellerin, D....
Parkinsonism & Related Disorders.  122 (2024)  - p. 106157 , 2024
Link: https://doi.org/10.1016/..
 
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2

Unraveling the Genetic Landscape of Undiagnosed Cerebellar ..:

Novis, L.E. ; Alavi, S. ; Pellerin, D....
Parkinsonism & Related Disorders.  122 (2024)  - p. 106162 , 2024
Link: https://doi.org/10.1016/..
 
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3

P412 Expanding the clinical and genetic spectrum of biallel..:

Donkervoort, S. ; Zaharieva, I. ; Essid, M....
Neuromuscular Disorders.  33 (2023)  - p. S126-S127 , 2023
Link: https://doi.org/10.1016/..
 
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4

INV10 Genetic discovery and pathomechanisms of repeat disor..:

Houlden, H.
Neuromuscular Disorders.  33 (2023)  - p. S130 , 2023
Link: https://doi.org/10.1016/..
 
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5

Biallelic KITLG variants lead to a distinct spectrum of hyp..:

Vona, B. ; Schwartzbaum, D.A. ; Rodriguez, A.A....
Journal of the European Academy of Dermatology and Venereology.  36 (2022)  9 - p. 1606-1611 , 2022
Link: https://doi.org/10.1111/..
 
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6

P.181 Limb girdle muscle dystrophy: a Brazilian cohort on I..:

Tomaselli, P. ; Frezatti, R. ; Record, C....
Neuromuscular Disorders.  32 (2022)  - p. S119 , 2022
Link: https://doi.org/10.1016/..
 
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7

P.215 Non 5Q SMA: a Brazilian cohort study:

Frezatti, R. ; Tomaselli, P. ; Record, C....
Neuromuscular Disorders.  32 (2022)  - p. S134 , 2022
Link: https://doi.org/10.1016/..
 
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8

Baseline factors associated with early and late death in in..:

Banerjee, G. ; Ambler, G. ; Wilson, D....
European Journal of Neurology.  27 (2020)  7 - p. 1257-1263 , 2020
Link: https://doi.org/10.1111/..
 
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9

The Cortical Basal ganglia Functional Scale (CBFS): Develop..:

Lang, Anthony E. ; Stebbins, Glenn T. ; Wang, Ping...
Parkinsonism & Related Disorders.  79 (2020)  - p. 121-126 , 2020
Link: https://doi.org/10.1016/..
 
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10

Mitochondria function associated genes contribute to Parkin..:

Billingsley, Kimberley J. ; Barbosa, Ines A. ; Bandrés-Ciga, Sara...
npj Parkinson's Disease.  5 (2019)  1 - p. , 2019
Link: https://doi.org/10.1038/..
 
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11

EP.103Genetic and phenotypic characterisation of inherited ..:

Bugiardini, E. ; Khan, A. ; Phadke, R....
Neuromuscular Disorders.  29 (2019)  - p. S182 , 2019
Link: https://doi.org/10.1016/..
 
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12

Mitochondrial ribosomal protein S25 (MRPS25) mutations impa..:

Bugiardini, E. ; Mitchell, A. ; Dalla Rosa, I....
Neuromuscular Disorders.  28 (2018)  - p. S30-S31 , 2018
Link: https://doi.org/10.1016/..
 
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13

The "hidden" mitochondrial genome: a novel bioinformatic ap..:

Poole, O.V. ; Murphy, D. ; Woodward, C....
Neuromuscular Disorders.  28 (2018)  - p. S33 , 2018
Link: https://doi.org/10.1016/..
 
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14

Translating discovery science into treatments for patients:..:

Bellin, A. ; Bushby, K.M. ; Chinnery, P....
Neuromuscular Disorders.  28 (2018)  - p. S37 , 2018
Link: https://doi.org/10.1016/..
 
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15

In vitro modelling of mitochondrial disease using human ind..:

O'Callaghan, B. ; Hanna, M.G. ; Morgan, J...
Neuromuscular Disorders.  28 (2018)  - p. S32 , 2018
Link: https://doi.org/10.1016/..
 
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