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Chaouch, Amina
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1

Dyspnea (breathlessness) in amyotrophic lateral sclerosis/m..:

Young, Carolyn A. ; Chaouch, Amina ; Mcdermott, Christopher J....
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.  , 2024
Link: https://doi.org/10.1080/..
 
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2

Informed consent for whole genome sequencing in mainstream ..:

Chaouch, Amina ; Ulph, Fiona ; Alder, James...
European Journal of Human Genetics.  , 2024
Link: https://doi.org/10.1038/..
 
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3

Improving the measurement properties of the Amyotrophic Lat..:

Young, Carolyn A ; Chaouch, Amina ; Mcdermott, Christopher J...
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.  25 (2024)  3-4 - p. 400-409 , 2024
Link: https://doi.org/10.1080/..
 
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4

Perry Syndrome with Intrafamilial Heterogeneity in Presenta..:

Boardman, Jeremy ; Mascareno Ponte, Maria ; Chaouch, Amina.
Movement Disorders Clinical Practice.  9 (2022)  6 - p. 816-820 , 2022
Link: https://doi.org/10.1002/..
 
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5

Clinical trials in amyotrophic lateral sclerosis: a systema..:

Wong, Charis ; Stavrou, Maria ; Elliott, Elizabeth...
Brain Communications.  3 (2021)  4 - p. , 2021
Link: https://doi.org/10.1093/..
 
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6

The Edinburgh Cognitive and Behavioral ALS Screen (ECAS) in..:

Saxon, Jennifer A. ; Thompson, Jennifer C. ; Harris, Jennifer M....
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration.  21 (2020)  7-8 - p. 606-613 , 2020
Link: https://doi.org/10.1080/..
 
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7

Cognition and behaviour in frontotemporal dementia with and..:

Saxon, Jennifer A ; Thompson, Jennifer C ; Harris, Jennifer M...
Journal of Neurology, Neurosurgery & Psychiatry.  91 (2020)  12 - p. 1304-1311 , 2020
Link: https://doi.org/10.1136/..
 
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8

TCTEX1D1 is a genetic modifier of disease progression in Du..:

CINRG Investigators ; Spitali, Pietro ; Zaharieva, Irina...
European Journal of Human Genetics.  28 (2020)  6 - p. 815-825 , 2020
Link: https://doi.org/10.1038/..
 
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9

Mutations in SLC25A1, encoding the mitochondrial citrate ca..:

Scarcia, Pasquale ; Zampi, Giuseppina ; Porcelli, Vito...
Biochimica et Biophysica Acta (BBA) - Bioenergetics.  1857 (2016)  - p. e71 , 2016
Link: https://doi.org/10.1016/..
 
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10

Fibronectin is a serum biomarker for Duchenne muscular dyst..:

Cynthia Martin, F. ; Hiller, Monika ; Spitali, Pietro...
PROTEOMICS – Clinical Applications.  8 (2014)  3-4 - p. 269-278 , 2014
Link: https://doi.org/10.1002/..
 
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11

Affinity proteomics within rare diseases: a BIO‐NMD study f..:

Ayoglu, Burcu ; Chaouch, Amina ; Lochmüller, Hanns...
EMBO Molecular Medicine.  6 (2014)  7 - p. 918-936 , 2014
Link: https://doi.org/10.15252..
 
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12

Agrin mutations lead to a congenital myasthenic syndrome wi..:

Nicole, Sophie ; Chaouch, Amina ; Torbergsen, Torberg...
Brain.  137 (2014)  9 - p. 2429-2443 , 2014
Link: https://doi.org/10.1093/..
 
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13

Mutations in the Mitochondrial Citrate Carrier SLC25A1 are ..:

Chaouch, Amina ; Porcelli, Vito ; Cox, Daniel...
Journal of Neuromuscular Diseases.  1 (2014)  1 - p. 75-90 , 2014
Link: https://doi.org/10.3233/..
 
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14

Fast-channel congenital myasthenic syndrome with a novel ac..:

Webster, Richard ; Liu, Wei-Wei ; Chaouch, Amina..
Neuromuscular Disorders.  24 (2014)  2 - p. 143-147 , 2014
Link: https://doi.org/10.1016/..
 
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15

Expanding the Clinical Phenotype of Agrin-Associated Congen..:

Chaouch, Amina ; Torbergsen, Torberg ; Muller, Juliane...
Neurology.  80 (2013)  7_supplement - p. , 2013
Link: https://doi.org/10.1212/..
 
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