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Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia
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Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia

Liampas, Andreas ; Nicolaou, Paschalis ; Votsi, Christina ; Georghiou, Anthi ; Christodoulou, Kyproula ; Tanteles, George A ; Pantzaris, Marios

Molecular biology reports, 2024-12, Vol.51 (1), p.590-590, Article 590 [Revista revisada por pares]

Dordrecht: Springer Netherlands

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2
Natural history of cardiac involvement in myotonic dystrophy type 1 – Emphasis on the need for lifelong follow-up
Natural history of cardiac involvement in myotonic dystrophy type 1 – Emphasis on the need for lifelong follow-up
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Natural history of cardiac involvement in myotonic dystrophy type 1 – Emphasis on the need for lifelong follow-up

Petri, Helle ; Mohammad, Batool J.Y. ; Kristensen, Andreas Torp ; Thune, Jens Jakob ; Vissing, John ; Køber, Lars ; Witting, Nanna ; Bundgaard, Henning ; Christensen, Alex Hørby

International journal of cardiology, 2024-07, Vol.406, p.132070-132070, Article 132070 [Revista revisada por pares]

Netherlands: Elsevier B.V

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3
Muscle strength, quantity and quality and muscle fat quantity and their association with oxidative stress in patients with facioscapulohumeral muscular dystrophy: Effect of antioxidant supplementation
Muscle strength, quantity and quality and muscle fat quantity and their association with oxidative stress in patients with facioscapulohumeral muscular dystrophy: Effect of antioxidant supplementation
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Muscle strength, quantity and quality and muscle fat quantity and their association with oxidative stress in patients with facioscapulohumeral muscular dystrophy: Effect of antioxidant supplementation

Wilson, Vinicius Dias ; Bommart, Sébastien ; Passerieux, Emilie ; Thomas, Claire ; Pincemail, Joël ; Picot, Marie Christine ; Mercier, Jacques ; Portet, Florence ; Arbogast, Sandrine ; Laoudj-Chenivesse, Dalila

Free radical biology & medicine, 2024-07, Vol.219, p.112-126 [Revista revisada por pares]

United States: Elsevier Inc

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4
Long-Term Outcome After Bilateral Descemet Membrane Endothelial Keratoplasty for Fuchs Endothelial Corneal Dystrophy
Long-Term Outcome After Bilateral Descemet Membrane Endothelial Keratoplasty for Fuchs Endothelial Corneal Dystrophy
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Long-Term Outcome After Bilateral Descemet Membrane Endothelial Keratoplasty for Fuchs Endothelial Corneal Dystrophy

Baydoun, Lamis ; Vasiliauskaitė, Indrė ; Luceri, Salvatore ; Jager, Martine J ; Schaal, Sontje-Chiao ; Bourgonje, Vincent ; Oellerich, Silke ; Melles, Gerrit R J

Cornea, 2024-06, Vol.43 (6), p.726-733 [Revista revisada por pares]

United States

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5
Clinical outcomes of epithelial basement membrane dystrophy after keratorefractive lenticule extraction
Clinical outcomes of epithelial basement membrane dystrophy after keratorefractive lenticule extraction
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Clinical outcomes of epithelial basement membrane dystrophy after keratorefractive lenticule extraction

Kim, Bu Ki ; Chung, Young Taek

Journal of cataract and refractive surgery, 2024-06, Vol.50 (6), p.558-564 [Revista revisada por pares]

United States: Wolters Kluwer

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6
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology
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Macular dystrophy in Kabuki syndrome due to de novo KMT2D variants: refining the phenotype with multimodal imaging and follow-up over 10 years: insight into pathophysiology

Vaclavik, Veronika ; Navarro, Aurelie ; Jacot-Guillarmod, Alain ; Bottani, Armand ; Sun, Young Joo ; Franco, Joel A. ; Mahajan, Vinit B. ; Smirnov, Vasily ; Bouvet-Drumare, Isabelle

Graefe's archive for clinical and experimental ophthalmology, 2024-06, Vol.262 (6), p.1737-1744 [Revista revisada por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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7
Congenital myasthenic syndrome from a MUSK gene mutation
Congenital myasthenic syndrome from a MUSK gene mutation
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Congenital myasthenic syndrome from a MUSK gene mutation

McLean, Antonia ; Wilson, Ian

Practical neurology, 2024-06, Vol.24 (3), p.238-240 [Revista revisada por pares]

England: BMJ Publishing Group Ltd

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8
METHYLATION-ASSOCIATED PATHWAYS IN MACULAR TELANGIECTASIA TYPE 2 AND OPHTHALMOLOGIC FINDINGS IN PATIENTS WITH GENETIC METHYLATION DISORDERS
METHYLATION-ASSOCIATED PATHWAYS IN MACULAR TELANGIECTASIA TYPE 2 AND OPHTHALMOLOGIC FINDINGS IN PATIENTS WITH GENETIC METHYLATION DISORDERS
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METHYLATION-ASSOCIATED PATHWAYS IN MACULAR TELANGIECTASIA TYPE 2 AND OPHTHALMOLOGIC FINDINGS IN PATIENTS WITH GENETIC METHYLATION DISORDERS

Pauleikhoff, Laurenz ; Wingert, Victoria ; Grünert, Sarah C ; Lange, Clemens ; Hannibal, Luciana ; Bucher, Felicitas

Retina (Philadelphia, Pa.), 2024-06, Vol.44 (6), p.1052-1062 [Revista revisada por pares]

United States

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9
Manual Superficial Keratectomy Is the First Choice Treatment for Salzmann Nodular Degeneration
Manual Superficial Keratectomy Is the First Choice Treatment for Salzmann Nodular Degeneration
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Manual Superficial Keratectomy Is the First Choice Treatment for Salzmann Nodular Degeneration

Scorsetti, M Micaela ; Eguiza, V Sergio ; Durán, Juan A

Cornea, 2024-06, Vol.43 (6), p.716-719 [Revista revisada por pares]

United States

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10
“You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy
“You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy
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“You Take This Day by Day, Come What May”: A Qualitative Study of the Psychosocial Impacts of Living with Duchenne Muscular Dystrophy

Bever, Andrea ; Audhya, Ivana ; Szabo, Shelagh M. ; Mickle, Alexis ; Feeny, David ; Malone, Daniel ; Neumann, Peter ; Iannaccone, Susan ; Gooch, Katherine

Advances in therapy, 2024-06, Vol.41 (6), p.2460-2476 [Revista revisada por pares]

Cheshire: Springer Healthcare

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