High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.

BibTeX

@article{allodium:10.1038/s41436-021-01250-6,
  title = {High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.},
  author = {Benkirane M and Marelli C and Guissart C and Roubertie A and Ollagnon E and Choumert A and Fluchère F and Magne FO and Halleb Y and Renaud M and Larrieu L and Baux D and Patat O and Bousquet I and Ravel JM and Cuntz-Shadfar D and Sarret C and Ayrignac X and Rolland A and Morales R and Pointaux M and Lieutard-Haag C and Laurens B and Tillikete C and Bernard E and Mallaret M and Carra-Dallière C and Tranchant C and Meyer P and Damaj L and Pasquier L and Acquaviva C and Chaussenot A and Isidor B and Nguyen K and Camu W and Eusebio A and Carrière N and Riquet A and Thouvenot E and Gonzales V and Carme E and Attarian S and Odent S and Castrioto A and Ewenczyk C and Charles P and Kremer L and Sissaoui S and Bahi-Buisson N and Kaphan E and Degardin A and Doray B and Julia S and Remerand G and Fraix V and Haidar LA and Lazaro L and Laugel V and Villega F and Charlin C and Frismand S and Moreira MC and Witjas T and Francannet C and Walther-Louvier U and Fradin M and Chabrol B and Fluss J and Bieth E and Castelnovo G and Vergnet S and Meunier I and Verloes A and Brischoux-Boucher E and Coubes C and Geneviève D and Lebouc N and Azulay JP and Anheim M and Goizet C and Rivier F and Labauge P and Calvas P and Koenig M},
  year = {2021},
  journal = {Genetics in medicine : official journal of the American College of Medical Genetics},
  doi = {10.1038/s41436-021-01250-6},
  url = {https://doi.org/10.1038/s41436-021-01250-6}
}

RIS

TY  - JOUR
TI  - High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
AU  - Benkirane M
AU  - Marelli C
AU  - Guissart C
AU  - Roubertie A
AU  - Ollagnon E
AU  - Choumert A
AU  - Fluchère F
AU  - Magne FO
AU  - Halleb Y
AU  - Renaud M
AU  - Larrieu L
AU  - Baux D
AU  - Patat O
AU  - Bousquet I
AU  - Ravel JM
AU  - Cuntz-Shadfar D
AU  - Sarret C
AU  - Ayrignac X
AU  - Rolland A
AU  - Morales R
AU  - Pointaux M
AU  - Lieutard-Haag C
AU  - Laurens B
AU  - Tillikete C
AU  - Bernard E
AU  - Mallaret M
AU  - Carra-Dallière C
AU  - Tranchant C
AU  - Meyer P
AU  - Damaj L
AU  - Pasquier L
AU  - Acquaviva C
AU  - Chaussenot A
AU  - Isidor B
AU  - Nguyen K
AU  - Camu W
AU  - Eusebio A
AU  - Carrière N
AU  - Riquet A
AU  - Thouvenot E
AU  - Gonzales V
AU  - Carme E
AU  - Attarian S
AU  - Odent S
AU  - Castrioto A
AU  - Ewenczyk C
AU  - Charles P
AU  - Kremer L
AU  - Sissaoui S
AU  - Bahi-Buisson N
AU  - Kaphan E
AU  - Degardin A
AU  - Doray B
AU  - Julia S
AU  - Remerand G
AU  - Fraix V
AU  - Haidar LA
AU  - Lazaro L
AU  - Laugel V
AU  - Villega F
AU  - Charlin C
AU  - Frismand S
AU  - Moreira MC
AU  - Witjas T
AU  - Francannet C
AU  - Walther-Louvier U
AU  - Fradin M
AU  - Chabrol B
AU  - Fluss J
AU  - Bieth E
AU  - Castelnovo G
AU  - Vergnet S
AU  - Meunier I
AU  - Verloes A
AU  - Brischoux-Boucher E
AU  - Coubes C
AU  - Geneviève D
AU  - Lebouc N
AU  - Azulay JP
AU  - Anheim M
AU  - Goizet C
AU  - Rivier F
AU  - Labauge P
AU  - Calvas P
AU  - Koenig M
PY  - 2021
JO  - Genetics in medicine : official journal of the American College of Medical Genetics
DO  - 10.1038/s41436-021-01250-6
UR  - https://doi.org/10.1038/s41436-021-01250-6
ER  - 

APA

M, B., C, M., C, G., A, R., E, O., A, C., F, F., FO, M., Y, H., M, R., L, L., D, B., O, P., I, B., JM, R., D, C., C, S., X, A., A, R., R, M., M, P., C, L., B, L., C, T., E, B., M, M., C, C., C, T., P, M., L, D., L, P., C, A., A, C., B, I., K, N., W, C., A, E., N, C., A, R., E, T., V, G., E, C., S, A., S, O., A, C., C, E., P, C., L, K., S, S., N, B., E, K., A, D., B, D., S, J., G, R., V, F., LA, H., L, L., V, L., F, V., C, C., S, F., MC, M., T, W., C, F., U, W., M, F., B, C., J, F., E, B., G, C., S, V., I, M., A, V., E, B., C, C., D, G., N, L., JP, A., M, A., C, G., F, R., P, L., P, C., & M, K. (2021). High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.. Genetics in medicine : official journal of the American College of Medical Genetics. https://doi.org/10.1038/s41436-021-01250-6