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Author/Creator Hamel, Christian P.

1. AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?. (February 2018)

Authors:
Roubertie, Agathe; Hieu, Nelson; Roux, Charles-Joris; Leboucq, Nicolas; Manes, Gael; Charif, Majida; Echenne, Bernard; Goizet, Cyril; Guissart, Claire; Meyer, Pierre; Marelli, Cecilia; Rivier, François; Burglen, Lydie; Horvath, Rita; Hamel, Christian P.; Lenaers, Guy
Journal:
Neurology
Issue:
Volume 4:Number 1(2018)
Page Start:
Record Type:
Journal Article
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3. LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. Issue Volume 11:Issues 3(2017:Summer) (2017)

Authors:
Perez-Roustit, Sarah; Marquette, Virginie; Bocquet, Béatrice; Kaplan, Josseline; Perrault, Isabelle; Meunier, Isabelle; Hamel, Christian P.
Journal:
Retinal cases & brief reports
Issue:
Volume 11:Issues 3(2017:Summer)
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Record Type:
Journal Article
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4. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant. (10th June 2015)

Authors:
Charif, Majida; Titah, Salah Mohamed Cherif; Roubertie, Agathe; Desquiret‐Dumas, Valérie; Gueguen, Naig; Meunier, Isabelle; Leid, Jean; Massal, Frédéric; Zanlonghi, Xavier; Mercier, Jacques; Raynaud de Mauverger, Eric; Procaccio, Vincent; de Camaret, Bénédicte Mousson; Lenaers, Guy; Hamel, Christ...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 10(2015:Oct.)
Page Start:
2366
Record Type:
Journal Article
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5. Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT‐TF variant. (10th June 2015)

Authors:
Charif, Majida; Titah, Salah Mohamed Cherif; Roubertie, Agathe; Desquiret‐Dumas, Valérie; Gueguen, Naig; Meunier, Isabelle; Leid, Jean; Massal, Frédéric; Zanlonghi, Xavier; Mercier, Jacques; Raynaud de Mauverger, Eric; Procaccio, Vincent; de Camaret, Bénédicte Mousson; Lenaers, Guy; Hamel, Christ...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 10(2015:Oct.)
Page Start:
2366
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

6. Pathogenicity of novel atypical variants leading to choroideremia as determined by functional analyses. Issue 1 (8th November 2018)

Authors:
Vaché, Christel; Torriano, Simona; Faugère, Valérie; Erkilic, Nejla; Baux, David; Garcia‐Garcia, Gema; Hamel, Christian P.; Meunier, Isabelle; Zanlonghi, Xavier; Koenig, Michel; Kalatzis, Vasiliki; Roux, Anne‐Françoise
Journal:
Human mutation
Issue:
Volume 40:Issue 1(2019)
Page Start:
31
Record Type:
Journal Article
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8. Phloroglucinol protects retinal pigment epithelium and photoreceptor against all‐trans‐retinal–induced toxicity and inhibits A2E formation. Issue 9 (12th April 2016)

Authors:
Cia, David; Cubizolle, Aurélie; Crauste, Céline; Jacquemot, Nathalie; Guillou, Laurent; Vigor, Claire; Angebault, Claire; Hamel, Christian P.; Vercauteren, Joseph; Brabet, Philippe
Journal:
Journal of cellular and molecular medicine
Issue:
Volume 20:Issue 9(2016)
Page Start:
1651
Record Type:
Journal Article
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