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Browsing by Author "Lochmüller, Hanns"

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A de novo CSDE1 variant causing neurodevelopmental delay, intellectual disability, neurologic and psychiatric symptoms in a child of consanguineous parents

Gangfuß, Andrea; Lochmüller, Hanns; Töpf, Ana; O'Hehir, Emily; Horvath, Rita; Kölbel, Heike; Schweiger, Bernd; Schara-Schmidt, Ulrike; Roos, Andreas (Wiley, 2022)

CSDE1 encodes the cytoplasmic cold shock domain-containing protein E1 (CSDE1), which is highly conserved across species and functions as an RNA-binding protein involved in translationally coupled mRNA turnover. CSDE1 ...
A guide to writing systematic reviews of rare disease treatments to generate FAIR-compliant datasets: building a Treatabolome

Atalaia, Antonio; Corvò, Alberto; Piscia, Davide; Matalonga, Leslie; Hernández Ferrer, Carles; Laurie, Steven, 1973-; Lochmüller, Hanns; Bonne, Gisèle (BioMed Central, 2020)

Background: Rare diseases are individually rare but globally affect around 6% of the population, and in over 70% of cases are genetically determined. Their rarity translates into a delayed diagnosis, with 25% of patients ...
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era

Thompson, Rachel; Abicht, Angela; Beeson, David; Engel, Andrew G.; Eymard, Bruno; Maxime, Emmanuel; Lochmüller, Hanns (BioMed Central, 2018)

Background: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly ...
A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features

Lim, Albert Z.; McMacken, Grace M.; Rastelli, Francesca; Oláhová, Monika; Baty, Karen; Hopton, Sila; Falkous, Gavin; Töpf, Ana; Lochmüller, Hanns; Marini-Bettolo, Chiara; McFarland, Robert; Taylor, Robert W. (Elsevier, 2020)

Mitochondrial DNA (mtDNA)-related diseases often pose a diagnostic challenge and require rigorous clinical and laboratory investigation. Pathogenic variants in the mitochondrial tRNA gene MT-TY, which encodes the tRNATyr, ...
Analysis of the functional capacity outcome measures for myotonic dystrophy

Jimenez-Moreno, Aura Cecilia; Nikolenko, Nikoletta; Kierkegaard, Marie; Blain, Alasdair P.; Newman, Jane; Massey, Charlotte; Moat, Dionne; Sodhi, Jas; Atalaia, Antonio; Gorman, Grainne S.; Turner, Chris; Lochmüller, Hanns (Wiley, 2019)

Objectives: Defining clinically relevant outcome measures for myotonic dystrophy type 1 (DM1) that can be valid and feasible for different phenotypes has proven problematic. The Outcome Measures for Myotonic Dystrophy ...
Associations between variant repeat interruptions and clinical outcomes in myotonic dystrophy type 1

Wenninger, Stephan; Cumming, Sarah A.; Gutschmidt, Kristina; Okkersen, Kees; Jimenez-Moreno, Aura Cecilia; Daidj, Ferroudja; Lochmüller, Hanns; Hogarth, Fiona; Knoop, Hans; Bassez, Guillaume; Monckton, Darren G.; van Engelen, Baziel G.M.; Schoser, Benedikt (Wolters Kluwer (LWW), 2021)

Objective: To assess the association between variant repeat (VR) interruptions in patients with myotonic dystrophy type 1 (DM1) and clinical symptoms and outcome measures after cognitive behavioral therapy (CBT) intervention. ...
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion

McMacken, Grace M.; Lochmüller, Hanns; Bansagi, Boglarka; Pyle, Angela; Lochmüller, Angela; Chinnery, Patrick F.; Laurie, Steven, 1973-; Beltran, Sergi; Matalonga, Leslie; Horvath, Rita (Springer, 2020)

Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular ...
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy

van der Knoop, Marieke M.; Lochmüller, Hanns; Houlden, Henry (Oxford University Press, 2022)

Pathogenic variants in A Disintegrin And Metalloproteinase (ADAM) 22, the postsynaptic cell membrane receptor for the glycoprotein leucine-rich repeat glioma-inactivated protein 1 (LGI1), have been recently associated with ...
Biochemical and pathological changes result from mutated Caveolin-3 in muscle

González Coraspe, José Andrés; Weis, Joachim; Anderson, Mary E.; Münchberg, Ute; Lorenz, Kristina; Buchkremer, Stephan; Carr, Stephanie; Zahedi, René P.; Brauers, Eva; Michels, Hannah; Sunada, Yoshihide; Lochmüller, Hanns; Campbell, Kevin P.; Freier, Erik; Hathazi, Denisa; Roos, Andreas (BioMed Central, 2018)

Background: Caveolin-3 (CAV3) is a muscle-specific protein localized to the sarcolemma. It was suggested that CAV3 is involved in the connection between the extracellular matrix (ECM) and the cytoskeleton. Caveolinopathies ...
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy

Schorling, David; Kölbel, Heike; Hentschel, Andreas; Pechmann, Astrid; Meyer, Nancy; Wirth, Brunhilde; Rombo, Roman; SMArtCARE consortium; Sickmann, Albert; Kirschner, Janbernd; Schara-Schmidt, Ulrike; Lochmüller, Hanns; Roos, Andreas (Wiley, 2022)

Background and purpose: The therapeutic landscape of spinal muscular atrophy (SMA) has changed dramatically during the past 4 years, but treatment responses differ remarkably between individuals, and therapeutic decision-making ...
Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights

Kakouri, Andrea C.; Koutalianos, Demetris; Koutsoulidou, Andrie; Oulas, Anastasis; Tomazou, Marios; Nikolenko, Nikoletta; Turner, Chris; Roos, Andreas; Lusakowska, Anna; Janiszewska, Katarzyna; Papadimas, George K.; Papadopoulos, Constantinos; Kararizou, Evangelia; Papanicolaou, Eleni Zamba; Gorman, Grainne S.; Lochmüller, Hanns; Spyrou, George M.; Phylactou, Leonidas A. (Taylor and Francis, 2022)

Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral ...
COL4A1-related autosomal recessive encephalopathy in 2 Turkish children

Yaramis, Ahmet; Lochmüller, Hanns; Töpf, Ana; Sonmezler, Ece; Yilmaz, Elmasnur; Hiz, Semra; Yis, Uluc; Gungor, Serdal; Polat, Ayse Ipek; Edem, Pinar; Beltran, Sergi; Laurie, Steven, 1973-; Yaramis, Aysenur; Horvath, Rita; Oktay, Yavuz (Lippincott Williams & Wilkins, 2020)

OBJECTIVE: This study presents the neurologic phenotypes of 2 brothers with a novel homozygous COL4A1 mutation that was identified in a large Turkish consanguineous cohort of neurogenetic diseases. METHODS: Whole-exome ...
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients

Capitanio, Daniele; Moriggi, Manuela; Torretta, Enrica; Barbacini, Pietro; De Palma, Sara; Viganò, Agnese; Lochmüller, Hanns; Muntoni, Francesco; Ferlini, Alessandra; Mora, Marina; Gelfi, Cecilia (Wiley-VCH Verlag, 2020)

BACKGROUND: Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are characterized by muscle wasting leading to loss of ambulation in the first or third decade, respectively. In DMD, the lack of dystrophin ...
Comprehensive RNA-sequencing analysis in serum and muscle reveals novel small RNA signatures with biomarker potential for DMD

Coenen-Stass, Anna M.L.; Sork, Helena; Gatto, Sole; Godfrey, Caroline; Bhomra, Amarjit; Krjutškov, Kaarel; Hart, Jonathan R.; Westholm, Jakub O.; O'Donovan, Liz; Roos, Andreas; Lochmüller, Hanns; Puri, Pier Lorenzo; El Andaloussi, Samir; Wood, Matthew J.A.; Roberts, Thomas C. (Elsevier, 2018)

Extracellular small RNAs (sRNAs), including microRNAs (miRNAs), are promising biomarkers for diseases such as Duchenne muscular dystrophy (DMD), although their biological relevance is largely unknown. To investigate the ...
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

Lochmüller, Hanns; Balaraju, Sunitha; Laurie, Steven, 1973-; Lochmüller, Hanns (Springer, 2020)

Congenital myasthenic syndromes (CMS) are a clinically and genetically heterogeneous group of disorders caused by mutations which lead to impaired neuromuscular transmission. SLC25A1 encodes a mitochondrial citrate carrier, ...
Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

Dominov, Janice A.; Uyan, Özgün; McKenna-Yasek, Diane; Nallamilli, Babi Ramesh Reddy; Kergourlay, Virginie; Bartoli, Marc; Levy, Nicolas; Hudson, Judith; Evangelista, Teresinha; Lochmüller, Hanns; Krahn, Martin; Rufibach, Laura; Hegde, Madhuri; Brown, Robert H. (Wiley, 2019)

Objective: Dysferlin is a large transmembrane protein that functions in critical processes of membrane repair and vesicle fusion. Dysferlin-deficiency due to mutations in the dysferlin gene leads to muscular dystrophy ...
De-duplicating patient records from three independent data sources reveals the incidence of rare neuromuscular disorders in Germany

König, Kirsten; Pechmann, Astrid; Thiele, Simone; Walter, Maggie C.; Schorling, David; Tassoni, Adrian; Lochmüller, Hanns; Müller-Reible, Clemens; Kirschner, Janbernd (BioMed Central, 2019)

Background: Estimation of incidence in rare diseases is often challenging due to unspecific and incomplete coding and recording systems. Patient- and health care provider-driven data collections are held with different ...
Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

Wood, Libby; Lochmüller, Hanns (BioMed Central, 2018)

Background: Myotonic Dystrophy is the most common form of muscular dystrophy in adults, affecting an estimated 10 per 100,000 people. It is a multisystemic disorder affecting multiple generations with increasing severity. ...
Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Köhler, Sebastian; Beltran, Sergi; Lochmüller, Hanns (Oxford University Press, 2019)

The Human Phenotype Ontology (HPO)-a standardized vocabulary of phenotypic abnormalities associated with 7000+ diseases-is used by thousands of researchers, clinicians, informaticians and electronic health record systems ...
GFPT1 deficiency in muscle leads to myasthenia and myopathy in mice

Issop, Yasmin; Hathazi, Denisa; Khan, Muzamil Majid; Rudolf, Rüdiger; Weis, Joachim; Spendiff, Sally; Slater, Clarke R.; Roos, Andreas; Lochmüller, Hanns (Oxford University Press, 2018)

Glutamine-fructose-6-phosphate transaminase 1 (GFPT1) is the rate-limiting enzyme in the hexosamine biosynthetic pathway which yields precursors required for protein and lipid glycosylation. Mutations in GFPT1 and other ...

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