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Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders.

• Authors : Kaiyrzhanov R; Department of Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK.; Rad A

Subjects: Intellectual Disability*/Intellectual Disability*/Intellectual Disability*/genetics ; Microcephaly* ; Movement Disorders*/Movement Disorders*/Movement Disorders*/genetics

• Source: Brain : a journal of neurology [Brain] 2024 Apr 04; Vol. 147 (4), pp. 1436-1456.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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De novo heterozygous missense variants in CELSR1 as cause of fetal pleural effusions and progressive fetal hydrops.

• Authors : de Koning MA; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.; Pimienta Ramirez PA

• Source: Journal of medical genetics [J Med Genet] 2024 Feb 22. Date of Electronic Publication: 2024 Feb 22.Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet

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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.

• Authors : Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, London WC1N 3BG, UK.; Kaiyrzhanov R

Subjects: Epilepsy*/Epilepsy*/Epilepsy*/genetics ; Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/Neurodevelopmental Disorders*/genetics ; Epilepsy, Generalized*/Epilepsy, Generalized*/Epilepsy, Generalized*/pathology

• Source: Brain : a journal of neurology [Brain] 2023 Dec 01; Vol. 146 (12), pp. 5031-5043.Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN:

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Correction: Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.

• Authors : Soupene E; Schatz UA; Rudnik-Schöneborn S

• Source: PloS one [PLoS One] 2022 Apr 21; Vol. 17 (4), pp. e0267678. Date of Electronic Publication: 2022 Apr 21 (Print Publication: 2022).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder.

• Authors : Morava E; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905, USA.; Schatz UA

Subjects: Mutation*; Glucose-6-Phosphate/Glucose-6-Phosphate/Glucose-6-Phosphate/*analogs & derivatives ; Neurodevelopmental Disorders/Neurodevelopmental Disorders/Neurodevelopmental Disorders/*pathology

• Source: American journal of human genetics [Am J Hum Genet] 2021 Jun 03; Vol. 108 (6), pp. 1151-1160. Date of Electronic Publication: 2021 May 11.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Response to Hall et al.

• Authors : Chong JX; University of Washington Center for Mendelian Genomics

Subjects: Arthrogryposis* ; Musculoskeletal Abnormalities*; Humans

• Source: American journal of human genetics [Am J Hum Genet] 2020 Dec 03; Vol. 107 (6), pp. 1188-1189.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605

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Monogenic variants in dystonia: an exome-wide sequencing study.

• Authors : Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, Technical University of Munich, Munich, Germany.

Subjects: Dystonia/Dystonia/Dystonia/*diagnosis ; Dystonia/Dystonia/Dystonia/*genetics ; Exome/Exome/Exome/*genetics

• Source: The Lancet. Neurology [Lancet Neurol] 2020 Nov; Vol. 19 (11), pp. 908-918.Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465

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Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.

• Authors : Chong JX; University of Washington Center for Mendelian Genomics

Subjects: Arthrogryposis/Arthrogryposis/Arthrogryposis/*genetics ; Muscle, Skeletal/Muscle, Skeletal/Muscle, Skeletal/*pathology ; Musculoskeletal Abnormalities/Musculoskeletal Abnormalities/Musculoskeletal Abnormalities/*genetics

• Source: American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 293-310. Date of Electronic Publication: 2020 Jul 23.Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

• Authors : Pölsler L; Institute of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.; Schatz UA

Subjects: Abnormalities, Multiple/Abnormalities, Multiple/Abnormalities, Multiple/*etiology ; Coloboma/Coloboma/Coloboma/*complications ; Fibrillar Collagens/Fibrillar Collagens/Fibrillar Collagens/*genetics

• Source: American journal of medical genetics. Part A [Am J Med Genet A] 2020 Apr; Vol. 182 (4), pp. 730-734. Date of Electronic Publication: 2020 Jan 08.Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Requirement of the acyl-CoA carrier ACBD6 in myristoylation of proteins: Activation by ligand binding and protein interaction.

• Authors : Soupene E; Children's Hospital Oakland Research Institute, Oakland, California, United States of America.; Schatz UA

Subjects: ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/*metabolism; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/chemistry ; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/genetics

• Source: PloS one [PLoS One] 2020 Feb 27; Vol. 15 (2), pp. e0229718. Date of Electronic Publication: 2020 Feb 27 (Print Publication: 2020).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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