Challenges of Phenotype-Genotype Correlations in Rare Diseases—Reply von Smirnov, Vasily M, Zeitz, Christina, Audo, Isabelle

Volltext

The Positive Association between Melatonin-Containing Food Consumption and Older Adult Life Satisfaction, Psychoemotional State, and Cognitive Function von Borisenkov, Mikhail F, Dorogina, Olga I, Popov, Sergey V, Smirnov, Vasily V, Pecherkina, Anna A, Symaniuk, Elvira E

Volltext

Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination von Brock, Vincent, Wissocq, Anna, Geoffre, Nicolas, Marks, Caroline, Canel, Vincent, Huin, Vincent, Smirnov, Vasily M

Volltext

Near-infrared fundus autofluorescence alterations correlate with swept-source optical coherence tomography angiography findings in patients with retinitis pigmentosa von Nassisi, Marco, Lavia, Carlo, Mohand-Said, Saddek, Smirnov, Vasily, Antonio, Aline, Condroyer, Christel, Sancho, Serge, Varin, Juliette, Gaudric, Alain, Zeitz, Christina, Sahel, José-Alain, Audo, Isabelle

Volltext

Retinal Phenotype of Patients With Isolated Retinal Degeneration Due to CLN3 Pathogenic Variants in a French Retinitis Pigmentosa Cohort von Smirnov, Vasily M, Nassisi, Marco, Solis Hernandez, Cyntia, Méjécase, Cécile, El Shamieh, Said, Condroyer, Christel, Antonio, Aline, Meunier, Isabelle, Andrieu, Camille, Defoort-Dhellemmes, Sabine, Mohand-Said, Saddek, Sahel, José-Alain, Audo, Isabelle, Zeitz, Christina

Volltext

Isolation, Chemical Characterization and Antioxidant Activity of Pectic Polysaccharides of Fireweed ( Epilobium angustifolium L.) von Popov, Sergey, Smirnov, Vasily, Kvashninova, Elizaveta, Khlopin, Victor, Vityazev, Fedor, Golovchenko, Victoria

Volltext

Characterization of SSBP1-related optic atrophy and foveopathy von Meunier, Isabelle, Bocquet, Béatrice, Defoort-Dhellemmes, Sabine, Smirnov, Vasily, Arndt, Carl, Picot, Marie Christine, Dollfus, Hélène, Charif, Majida, Audo, Isabelle, Huguet, Hélèna, Zanlonghi, Xavier, Lenaers, Guy

Volltext

Large Benefit from Simple Things: High-Dose Vitamin A Improves RBP4 -Related Retinal Dystrophy von Smirnov, Vasily M, Wilmet, Baptiste, Nassisi, Marco, Condroyer, Christel, Antonio, Aline, Andrieu, Camille, Devisme, Céline, Sancho, Serge, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

Volltext

Crossed VEP asymmetry in a patient with AHR-linked infantile nystagmus and foveal hypoplasia von Smirnov, Vasily M., Lasseaux, Eulalie, Michaud, Vincent, Courdier, Cécile, Meunier, Isabelle, Arveiler, Benoit, Defoort-Dhellemmes, Sabine

Volltext

Association of Missense Variants in VSX2 With a Peculiar Form of Congenital Stationary Night Blindness Affecting All Bipolar Cells von Smirnov, Vasily M, Robert, Matthieu P, Condroyer, Christel, Navarro, Julien, Antonio, Aline, Rozet, Jean-Michel, Sahel, José-Alain, Perrault, Isabelle, Audo, Isabelle, Zeitz, Christina

Volltext

The Association between Melatonin-Containing Foods Consumption and Students' Sleep-Wake Rhythm, Psychoemotional, and Anthropometric Characteristics: A Semi-Quantitative Analysis an... von Borisenkov, Mikhail F, Popov, Sergey V, Smirnov, Vasily V, Martinson, Ekaterina A, Solovieva, Svetlana V, Danilova, Lina A, Gubin, Denis G

Volltext

Association of Chrononutrition Indices with Anthropometric Parameters, Academic Performance, and Psychoemotional State of Adolescents: A Cross-Sectional Study von Borisenkov, Mikhail F, Tserne, Tatyana A, Popov, Sergey V, Smirnov, Vasily V, Dorogina, Olga I, Pecherkina, Anna A, Symaniuk, Elvira E

Volltext

Polysaccharides of Salsola passerina: Extraction, Structural Characterization and Antioxidant Activity von Golovchenko, Victoria, Popov, Sergey, Smirnov, Vasily, Khlopin, Victor, Vityazev, Fedor, Naranmandakh, Shinen, Dmitrenok, Andrey S., Shashkov, Alexander S.

Volltext

Shedding light on myopia by studying complete congenital stationary night blindness von Zeitz, Christina, Roger, Jérome E., Audo, Isabelle, Michiels, Christelle, Sánchez-Farías, Nuria, Varin, Juliette, Frederiksen, Helen, Wilmet, Baptiste, Callebert, Jacques, Gimenez, Marie-Laure, Bouzidi, Nassima, Blond, Frederic, Guilllonneau, Xavier, Fouquet, Stéphane, Léveillard, Thierry, Smirnov, Vasily, Vincent, Ajoy, Héon, Elise, Sahel, José-Alain, Kloeckener-Gruissem, Barbara, Sennlaub, Florian, Morgans, Catherine W., Duvoisin, Robert M., Tkatchenko, Andrei V., Picaud, Serge

Volltext

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants von Poncet, Anaïs F, Grunewald, Olivier, Vaclavik, Veronika, Meunier, Isabelle, Drumare, Isabelle, Pelletier, Valérie, Bocquet, Béatrice, Todorova, Margarita G, Le Moing, Anne-Gaëlle, Devos, Aurore, Schorderet, Daniel F, Jobic, Florence, Defoort-Dhellemmes, Sabine, Dollfus, Hélène, Smirnov, Vasily M, Dhaenens, Claire-Marie

Volltext

Antibacterial effect of new photocatalytically active “complex oxides/PMMA” composites under visible-light irradiation von Shishkin, Andrey Yu, Fukina, Diana G., Rumyantseva, Victoria O., Shilova, Elena V., Ganov, Alexander S., Shalaginova, Irina A., Kornienko, Pavel V., Suleimanov, Evgeny V., Semenycheva, Ludmila L., Smirnov, Vasily F.

Volltext

Retrospective Natural History Study of RPGR -Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease von Nassisi, Marco, De Bartolo, Giuseppe, Mohand-Said, Saddek, Condroyer, Christel, Antonio, Aline, Lancelot, Marie-Elise, Bujakowska, Kinga, Smirnov, Vasily, Pugliese, Thomas, Neidhardt, John, Sahel, José-Alain, Zeitz, Christina, Audo, Isabelle

Volltext

Retinal Phenotype of Patients with CLRN1-Associated Usher 3A Syndrome in French Light4Deaf Cohort von Smirnov, Vasily M, Nassisi, Marco, Mohand-Saïd, Saddek, Bonnet, Crystel, Aubois, Anne, Devisme, Céline, Dib, Thilissa, Zeitz, Christina, Loundon, Natalie, Marlin, Sandrine, Petit, Christine, Bodaghi, Bahram, Sahel, José-Alain, Audo, Isabelle

Volltext

Pectic polysaccharides of the fresh plum Prunus domestica L. isolated with a simulated gastric fluid and their anti-inflammatory and antioxidant activities von Popov, Sergey V., Ovodova, Raisa G., Golovchenko, Victoria V., Khramova, Daria S., Markov, Pavel A., Smirnov, Vasily V., Shashkov, Alexandre S., Ovodov, Yury S.

Volltext

Functional Characterization of Splice Variants in the Diagnosis of Albinism von Diallo, Modibo, Courdier, Cécile, Mercier, Elina, Sequeira, Angèle, Defay-Stinat, Alicia, Plaisant, Claudio, Mesdaghi, Shahram, Rigden, Daniel, Javerzat, Sophie, Lasseaux, Eulalie, Bourgeade, Laetitia, Audebert-Bellanger, Séverine, Dollfus, Hélène, Hadj-Rabia, Smail, Morice-Picard, Fanny, Philibert, Manon, Sidibé, Mohamed Kole, Smirnov, Vasily, Sylla, Ousmane, Michaud, Vincent, Arveiler, Benoit

Volltext