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A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.
Published in:
European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1266, doi. 10.1038/ejhg.2014.256
By:
- Gauthier, Julie;
- Ouled Amar Bencheikh, Bouchra;
- Hamdan, Fadi F;
- Harrison, Steven M;
- Baker, Linda A;
- Couture, Françoise;
- Thiffault, Isabelle;
- Ouazzani, Reda;
- Samuels, Mark E;
- Mitchell, Grant A;
- Rouleau, Guy A;
- Michaud, Jacques L;
- Soucy, Jean- François
Publication type:
Article
Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
Published in:
2018
By:
- Lyahyai, Jaber;
- Bencheikh, Bouchra Ouled Amar;
- Elalaoui, Siham C.;
- Mansouri, Maria;
- Boualla, Lamia;
- DIonne-Laporte, Alexandre;
- Spiegelman, Dan;
- Dion, Patrick A.;
- Cossette, Patrick;
- Rouleau, Guy A.;
- Sefiani, Abdelaziz
Publication type:
journal article
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
Published in:
2018
By:
- Lyahyai, Jaber;
- Oulad Amar Bencheikh, Bouchra;
- Elalaoui, Siham C.;
- Mansouri, Maria;
- Boualla, Lamia;
- DIonne-Laporte, Alexandre;
- Spiegelman, Dan;
- Dion, Patrick A.;
- Cossette, Patrick;
- Rouleau, Guy A.;
- Sefiani, Abdelaziz;
- Ouled Amar Bencheikh, Bouchra
Publication type:
journal article
Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.
Published in:
2020
By:
- Krohn, Lynne;
- Öztürk, Tuğba Nur;
- Vanderperre, Benoît;
- Ouled Amar Bencheikh, Bouchra;
- Ruskey, Jennifer A.;
- Laurent, Sandra B.;
- Spiegelman, Dan;
- Postuma, Ronald B.;
- Arnulf, Isabelle;
- Hu, Michele T. M.;
- Dauvilliers, Yves;
- Högl, Birgit;
- Stefani, Ambra;
- Monaca, Christelle Charley;
- Plazzi, Giuseppe;
- Antelmi, Elena;
- Ferini‐Strambi, Luigi;
- Heidbreder, Anna;
- Rudakou, Uladzislau;
- Cochen De Cock, Valérie
Publication type:
journal article
Carboxypeptidase A6 gene ( CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.
Published in:
Human Mutation, 2012, v. 33, n. 1, p. 124, doi. 10.1002/humu.21613
By:
- Salzmann, Annick;
- Guipponi, Michel;
- Lyons, Peter J.;
- Fricker, Lloyd D.;
- Sapio, Matthew;
- Lambercy, Carmen;
- Buresi, Catherine;
- Ouled Amar Bencheikh, Bouchra;
- Lahjouji, Fatiha;
- Ouazzani, Reda;
- Crespel, Arielle;
- Chaigne, Denys;
- Malafosse, Alain
Publication type:
Article

Found: 5

A homozygous loss-of-function variant in MYH11 in a case with megacystis-microcolon-intestinal hypoperistalsis syndrome.

Correction to: Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.

Genetic, Structural, and Functional Evidence Link TMEM175 to Synucleinopathies.

Carboxypeptidase A6 gene ( CPA6) mutations in a recessive familial form of febrile seizures and temporal lobe epilepsy and in sporadic temporal lobe epilepsy.