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X
Luque, H
1705  Ergebnisse:
Personensuche X
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1

P162 Welander distal myopathy caused by genomic deletion in..:

Jonson, P. ; Sarparanta, J. ; Rusanen, S....
Neuromuscular Disorders.  33 (2023)  - p. S140 , 2023
Link: https://doi.org/10.1016/..
 
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2

P164 Development of a myotube model for C-terminal titin st..:

Sarparanta, J. ; Jonson, P. ; Luque, H....
Neuromuscular Disorders.  33 (2023)  - p. S140-S141 , 2023
Link: https://doi.org/10.1016/..
 
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3

P.154 A novel TIA1 frameshift variant in a dominant myopath..:

Sarparanta, J. ; Jonson, P. ; Vihola, A....
Neuromuscular Disorders.  32 (2022)  - p. S110 , 2022
Link: https://doi.org/10.1016/..
 
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4

P.157 Dominant HSPB6 mutation in a myopathy patient:

Sarparanta, J. ; Jonson, P. ; Vihola, A....
Neuromuscular Disorders.  32 (2022)  - p. S110-S111 , 2022
Link: https://doi.org/10.1016/..
 
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5

DISTAL MYOPATHIES:

Sarparanta, J. ; Jonson, P. ; Luque, H...
Neuromuscular Disorders.  31 (2021)  - p. S71 , 2021
Link: https://doi.org/10.1016/..
 
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6

NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS:

Savarese, M. ; Johari, M. ; Vihola, A....
Neuromuscular Disorders.  31 (2021)  - p. S161 , 2021
Link: https://doi.org/10.1016/..
 
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7

NEW GENES IN NEUROMUSCULAR DISEASES:

Johari, M. ; Savarese, M. ; Vihola, A....
Neuromuscular Disorders.  30 (2020)  - p. S46 , 2020
Link: https://doi.org/10.1016/..
 
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8

HEREDITARY NEUROPATHIES & ALS:

Sarparanta, J. ; Jonson, P. ; Vihola, A....
Neuromuscular Disorders.  30 (2020)  - p. S79-S80 , 2020
Link: https://doi.org/10.1016/..
 
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9

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT:

Jonson, P. ; Sarparanta, J. ; Kawan, S....
Neuromuscular Disorders.  28 (2018)  - p. S62 , 2018
Link: https://doi.org/10.1016/..
 
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10

Diagnostic anoctamin‐5 protein defect in patients with ANO5..:

Vihola, A. ; Luque, H. ; Savarese, M....
Neuropathology and Applied Neurobiology.  44 (2017)  5 - p. 441-448 , 2017
Link: https://doi.org/10.1111/..
 
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11

The 107 kD ANO5 protein is decreased in anoctaminopathy pat..:

Vihola, A. ; Luque, H. ; Savarese, M....
Neuromuscular Disorders.  27 (2017)  - p. S144-S145 , 2017
Link: https://doi.org/10.1016/..
 
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12

Complex processing of titin C-terminus by alternative cleav..:

Vihola, A. ; Luque, H. ; Jonson, P...
Neuromuscular Disorders.  26 (2016)  - p. S114 , 2016
Link: https://doi.org/10.1016/..
 
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13

A novel mutation in DNAJB6 causes LGMD1D in two French fami..:

Jonson, P. ; Evilä, A. ; Stojkovic, T....
Neuromuscular Disorders.  25 (2015)  - p. S236 , 2015
Link: https://doi.org/10.1016/..
 
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14

G.P.282:

Jonson, P.H. ; Palmio, J. ; Sarparanta, J...
Neuromuscular Disorders.  24 (2014)  9-10 - p. 902 , 2014
Link: https://doi.org/10.1016/..
 
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15

P.5.14 The co-chaperone DNAJB6 – mutated in LGMD1D – and it..:

Jonson, P.H. ; Sarparanta, J. ; Luque, H..
Neuromuscular Disorders.  23 (2013)  9-10 - p. 768 , 2013
Link: https://doi.org/10.1016/..
 
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