Search Results - "Pennings, Maartje"

The complexities of CACNA1A in clinical neurogenetics by Hommersom, Marina P., van Prooije, Teije H., Pennings, Maartje, Schouten, Meyke I., van Bokhoven, Hans, Kamsteeg, Erik-Jan, van de Warrenburg, Bart P. C.

“…Variants in CACNA1A are classically related to episodic ataxia type 2, familial hemiplegic migraine type 1, and spinocerebellar ataxia type 6. Over the years,…”
Get full text

Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yield by van der Sanden, Bart P.G.H., Corominas, Jordi, de Groot, Michelle, Pennings, Maartje, Meijer, Rowdy P.P., Verbeek, Nienke, van de Warrenburg, Bart, Schouten, Meyke, Yntema, Helger G., Vissers, Lisenka E. L.M., Kamsteeg, Erik-Jan, Gilissen, Christian

“…Expansions of a subset of short tandem repeats (STRs) have been implicated in approximately 30 different human genetic disorders. Despite extensive application…”
Get full text

Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene-disease associations and unanticipated rare disorders by van de Warrenburg, Bart P, Schouten, Meyke I, de Bot, Susanne T, Vermeer, Sascha, Meijer, Rowdy, Pennings, Maartje, Gilissen, Christian, Willemsen, Michèl Aap, Scheffer, Hans, Kamsteeg, Erik-Jan

“…Cerebellar ataxia (CA) and hereditary spastic paraplegia (HSP) are two of the most prevalent motor disorders with extensive locus and allelic heterogeneity. We…”
Get full text

Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy by Neveling, Kornelia, Martinez-Carrera, Lilian A., Hölker, Irmgard, Heister, Angelien, Verrips, Aad, Hosseini-Barkooie, Seyyed Mohsen, Gilissen, Christian, Vermeer, Sascha, Pennings, Maartje, Meijer, Rowdy, te Riele, Margot, Frijns, Catharina J.M., Suchowersky, Oksana, MacLaren, Linda, Rudnik-Schöneborn, Sabine, Sinke, Richard J., Zerres, Klaus, Lowry, R. Brian, Lemmink, Henny H., Garbes, Lutz, Veltman, Joris A., Schelhaas, Helenius J., Scheffer, Hans, Wirth, Brunhilde

“…Spinal muscular atrophy (SMA) is a heterogeneous group of neuromuscular disorders caused by degeneration of lower motor neurons. Although functional loss of…”
Get full text

Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications by Schobers, Gaby, Schieving, Jolanda H, Yntema, Helger G, Pennings, Maartje, Pfundt, Rolph, Derks, Ronny, Hofste, Tom, de Wijs, Ilse, Wieskamp, Nienke, van den Heuvel, Simone, Galbany, Jordi Corominas, Gilissen, Christian, Nelen, Marcel, Brunner, Han G, Kleefstra, Tjitske, Kamsteeg, Erik-Jan, Willemsen, Michèl A. A. P, Vissers, Lisenka E. L. M

“…Abstract Background Approximately two third of patients with a rare genetic disease remain undiagnosed after exome sequencing (ES). As part of our post-test…”
Get full text

Cytidine Diphosphate-Ribitol Analysis for Diagnostics and Treatment Monitoring of Cytidine Diphosphate-l-Ribitol Pyrophosphorylase A Muscular Dystrophy by van Tol, Walinka, van Scherpenzeel, Monique, Alsady, Mohammad, Riemersma, Moniek, Hermans, Esther, Kragt, Else, Tasca, Giorgio, Kamsteeg, Erik-Jan, Pennings, Maartje, van Beusekom, Ellen, Vermeulen, Jeroen R, van Bokhoven, Hans, Voermans, Nicol C, Willemsen, Michèl A, Ashikov, Angel, Lefeber, Dirk J

“…Many muscular dystrophies currently remain untreatable. Recently, dietary ribitol has been suggested as a treatment for cytidine diphosphate (CDP)-l-ribitol…”
Get full text

De novo variants in CAMTA1 cause a syndrome variably associated with spasticity, ataxia, and intellectual disability by Wijnen, Iris G M, Veenstra-Knol, Hermine E, Vansenne, Fleur, Gerkes, Erica H, de Koning, Tom, Vos, Yvonne J, Tijssen, Marina A J, Sival, Deborah, Darin, Niklas, Vanhoutte, Els K, Oosterloo, Mayke, Pennings, Maartje, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

“…Previously, intragenic CAMTA1 copy number variants (CNVs) have been shown to cause non-progressive, congenital ataxia with or without intellectual disability…”
Get full text

Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome by Willemsen, Michèl A, Vissers, Lisenka Elm, Verbeek, Marcel M, van Bon, Bregje W, Geuer, Sinje, Gilissen, Christian, Klepper, Joerg, Kwint, Michael P, Leen, Wilhelmina G, Pennings, Maartje, Wevers, Ron A, Veltman, Joris A, Kamsteeg, Erik-Jan

“…Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a neurometabolic disorder with a complex phenotypic spectrum but simple biomarkers in cerebrospinal…”
Get full text

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia by Pennings, Maartje, Schouten, Meyke I., van Gaalen, Judith, Meijer, Rowdy P. P., de Bot, Susanne T., Kriek, Marjolein, Saris, Christiaan G. J., van den Berg, Leonard H., van Es, Michael A., Zuidgeest, Dick M. H., Elting, Mariet W., van de Kamp, Jiddeke M., van Spaendonck-Zwarts, Karin Y., Die-Smulders, Christine de, Brilstra, Eva H., Verschuuren, Corien C., de Vries, Bert B. A., Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A., Jaeger, B., Schieving, Jolanda H., van de Warrenburg, Bart P., Kamsteeg, Erik-Jan

Get full text

Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter by Tesi, Niccolo, Salazar, Alex, Zhang, Yaran, van der Lee, Sven, Hulsman, Marc, Knoop, Lydian, Wijesekera, Sanduni, Krizova, Jana, Schneider, Anne-Fleur, Pennings, Maartje, Sleegers, Kristel, Kamsteeg, Erik-Jan, Reinders, Marcel, Holstege, Henne

“…Tandem repeats (TR) play important roles in genomic variation and disease risk in humans. Long-read sequencing allows for the accurate characterization of TRs,…”
Get full text

Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants by Schobers, Gaby, Pennings, Maartje, de Vries, Juliette, Kwint, Michael, van Reeuwijk, Jeroen, Corominas Galbany, Jordi, van Beek, Ronald, Kamping, Eveline, Timmermans, Raoul, Kamsteeg, Erik-Jan, Haer-Wigman, Lonneke, Cremers, Frans P M, Roosing, Susanne, Gilissen, Christian, Kremer, Hannie, Brunner, Han G, Yntema, Helger G, Vissers, Lisenka E L M

“…Clinical exome sequencing (ES) has facilitated genetic diagnosis in individuals with a rare genetic disorder by analysis of all protein-coding sequences in a…”
Get full text

Copy number variants from 4800 exomes contribute to ~7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies by Pennings, Maartje, Meijer, Rowdy P P, Gerrits, Monique, Janssen, Jannie, Pfundt, Rolph, de Leeuw, Nicole, Gilissen, Christian, Gardeitchik, Thatjana, Schouten, Meyke, Voermans, Nicol, van de Warrenburg, Bart, Kamsteeg, Erik-Jan

“…Various groups of neurological disorders, including movement disorders and neuromuscular diseases, are clinically and genetically heterogeneous. Diagnostic…”
Get full text

Genetic characterization of primary lateral sclerosis by de Boer, Eva M. J., de Vries, Balint S., Pennings, Maartje, Kamsteeg, Erik-Jan, Veldink, Jan H., van den Berg, Leonard H., van Es, Michael A.

“…Background and objectives Primary lateral sclerosis (PLS) is a motor neuron disease characterised by loss of the upper motor neurons. Most patients present…”
Get full text

Neuromuscular Features in XL-MTM Carriers: A Cross-sectional Study in an Unselected Cohort by Franken, Daniëlle K., Bouman, Karlijn, Reumers, Stacha F. I., Braun, Frederik, Spillane, Jennifer, Pennings, Maartje, Houwen, Saskia L.S., Erasmus, Corrie E., Schara-Schmidt, Ulrike, Kamsteeg, Erik-Jan, Jungbluth, Heinz, Voermans, Nicol C.

“…X-linked myotubular myopathy (XL-MTM) is an early-onset congenital myopathy characterized by mild to severe muscle weakness in male individuals. The objective…”
Get full text

Prevalence of intronic repeat expansions in RFC1 in Dutch patients with CANVAS and adult-onset ataxia by Ghorbani, Fatemeh, de Boer-Bergsma, Jelkje, Verschuuren-Bemelmans, Corien C., Pennings, Maartje, de Boer, Eddy N., Kremer, Berry, Vanhoutte, Els K., de Vries, Jeroen J., van de Berg, Raymond, Kamsteeg, Erik-Jan, van Diemen, Cleo C., Westers, Helga, van de Warrenburg, Bart P., Verbeek, Dineke S.

“…Recently, an intronic biallelic (AAGGG) n repeat expansion in RFC1 was shown to be a cause of CANVAS and adult-onset ataxia in multiple populations. As the…”
Get full text

A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder by Prooije, Teije H., Pennings, Maartje, Dorresteijn, Lucille, Gardeitchik, Thatjana, Odekerken, Vincent J.J., Oosterloo, Mayke, Pedersen, Annie, Verschuuren‐Bemelmans, Corien C., Vrancken, Alexander, Kamsteeg, Erik‐Jan, Warrenburg, Bart P.C.

“…Background Monoallelic, pathogenic STUB1 variants cause autosomal dominant cerebellar ataxia (ATX‐STUB1/SCA48). Recently, a genetic interaction between STUB1…”
Get full text

Spectrum of Clinical Features in X-Linked Myotubular Myopathy Carriers: An International Questionnaire Study by Reumers, Stacha F.I., Braun, Frederik, Spillane, Jennifer E., Böhm, Johann, Pennings, Maartje, Schouten, Meyke, van der Kooi, Anneke J., Foley, A. Reghan, Bönnemann, Carsten G., Kamsteeg, Erik-jan, Erasmus, Corrie E., Schara-Schmidt, Ulrike, Jungbluth, Heinz, Voermans, Nicol C.

“…OBJECTIVETo characterize the spectrum of clinical features in a cohort of X-linked myotubular myopathy (XL-MTM) carriers, including prevalence, genetic…”
Get full text

KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia by Pennings, Maartje, Schouten, Meyke I, van Gaalen, Judith, Meijer, Rowdy P P, de Bot, Susanne T, Kriek, Marjolein, Saris, Christiaan G J, van den Berg, Leonard H, van Es, Michael A, Zuidgeest, Dick M H, Elting, Mariet W, van de Kamp, Jiddeke M, van Spaendonck-Zwarts, Karin Y, Die-Smulders, Christine de, Brilstra, Eva H, Verschuuren, Corien C, de Vries, Bert B A, Bruijn, Jacques, Sofou, Kalliopi, Duijkers, Floor A, Jaeger, B, Schieving, Jolanda H, van de Warrenburg, Bart P, Kamsteeg, Erik-Jan

“…Variants in the KIF1A gene can cause autosomal recessive spastic paraplegia 30, autosomal recessive hereditary sensory neuropathy, or autosomal (de novo)…”
Get full text

The mitochondrial seryl-tRNA synthetase SARS2 modifies onset in spastic paraplegia type 4 by Parodi, Livia, Barbier, Mathieu, Jacoupy, Maxime, Pujol, Claire, Lejeune, François-Xavier, Lallemant-Dudek, Pauline, Esteves, Typhaine, Pennings, Maartje, Kamsteeg, Erik-Jan, Guillaud-Bataille, Marine, Banneau, Guillaume, Coarelli, Giulia, Oumoussa, Badreddine Mohand, Fraidakis, Matthew J., Stevanin, Giovanni, Depienne, Christel, van de Warrenburg, Bart, Brice, Alexis, Durr, Alexandra

“…Hereditary spastic paraplegia type 4 is extremely variable in age at onset; the same variant can cause onset at birth or in the eighth decade. We recently…”
Get full text

De novo SPAST mutations may cause a complex SPG4 phenotype by Schieving, Jolanda H, de Bot, Susanne T, van de Pol, Laura A, Wolf, Nicole I, Brilstra, Eva H, Frints, Suzanna G, van Gaalen, Judith, Misra-Isrie, Mala, Pennings, Maartje, Verschuuren-Bemelmans, Corien C, Kamsteeg, Erik-Jan, van de Warrenburg, Bart P, Willemsen, Michèl A

Get full text