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Sagath, D
48  results:
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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

VP.01 Array comparative genomic hybridisation and droplet d..:

Sagath, L. ; Lehtokari, V. ; Pelin, K..
Neuromuscular Disorders.  32 (2022)  - p. S47 , 2022
Link: https://doi.org/10.1016/..
 
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3

CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES:

Sagath, L. ; Lehtokari, V. ; Wallgren-Pettersson, C...
Neuromuscular Disorders.  31 (2021)  - p. S62 , 2021
Link: https://doi.org/10.1016/..
 
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4

MUSCLE FUNCTION & HOMEOSTASIS / MOLECULAR THERAPEUTIC APPRO..:

Sagath, L. ; Blondelle, J. ; Laitila, J....
Neuromuscular Disorders.  30 (2020)  - p. S69 , 2020
Link: https://doi.org/10.1016/..
 
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5

P.165Update on functional studies of YBX3 variants associat..:

Sagath, L. ; Laitila, J. ; Lehtokari, V....
Neuromuscular Disorders.  29 (2019)  - p. S96 , 2019
Link: https://doi.org/10.1016/..
 
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6

P.160The spectrum of disease-causing and normal variation i..:

Lehtokari, V. ; Sagath, L. ; Kiiski, K...
Neuromuscular Disorders.  29 (2019)  - p. S95 , 2019
Link: https://doi.org/10.1016/..
 
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7

Ryanodine receptor type 3 (RYR3) as a novel gene associated..:

Nilipour, Y. ; Nafissi, S. ; Tjust, A. E....
European Journal of Neurology.  25 (2018)  6 - p. 841-847 , 2018
Link: https://doi.org/10.1111/..
 
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8

CONGENITAL MYOPATHIES: NEMALINE AND TITINOPATHIES:

Sagath, L. ; Lehtokari, V. ; Wallgren-Pettersson, C...
Neuromuscular Disorders.  28 (2018)  - p. S105-S106 , 2018
Link: https://doi.org/10.1016/..
 
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9

Copy number variation analysis increases the diagnostic yie..:

Valipakka, S. ; Savarese, M. ; Johari, M....
Neuromuscular Disorders.  27 (2017)  - p. S193-S194 , 2017
Link: https://doi.org/10.1016/..
 
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10

A novel copy number variation detection array for the diagn..:

Sagath, L. ; Lehtokari, V. ; Wallgren-Pettersson, C...
Neuromuscular Disorders.  27 (2017)  - p. S182 , 2017
Link: https://doi.org/10.1016/..
 
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11

Functional studies of YBX3 variants associated with nemalin..:

Sagath, L. ; Laitila, J. ; Lehtokari, V....
Neuromuscular Disorders.  26 (2016)  - p. S134-S135 , 2016
Link: https://doi.org/10.1016/..
 
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12

Large copy number variants are common in the nebulin gene:

Pelin, K. ; Lehtokari, V. ; Sagath, L...
Neuromuscular Disorders.  26 (2016)  - p. S135 , 2016
Link: https://doi.org/10.1016/..
 
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13

Functional assessment of nebulin interactions with actin:

Laitila, J. ; Lehtonen, J. ; Marttila, M....
Neuromuscular Disorders.  26 (2016)  - p. S133 , 2016
Link: https://doi.org/10.1016/..
 
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14

A recurrent ACTA1 amino acid change in mosaic form causes m..:

Lehtokari, Vilma-Lotta ; Sagath, Lydia ; Davis, Mark...
Neuromuscular Disorders.  34 (2024)  - p. 32-40 , 2024
Link: https://doi.org/10.1016/..
 
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15

Novel Compound Heterozygous Splice-Site Variants in TPM3 Re..:

Pelin, Katarina ; Sagath, Lydia ; Lehtonen, Johanna...
Journal of Neuromuscular Diseases.  10 (2023)  5 - p. 977-984 , 2023
Link: https://doi.org/10.3233/..
 
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