Article
Genetics & Heredity
Yiming Qi, Xueqi Ji, Hongke Ding, Ling Liu, Yan Zhang, Aihua Yin
Summary: In this study, we reported a case of a 10-year-old girl with severe intellectual disability, rigidity, ataxia or dyspraxia, and cerebellar atrophy. Whole-exome sequencing identified two variants in the BRAT1 gene, causing decreased transcript levels and intron retention. This expands the phenotypic spectrum of BRAT1-associated disorders and highlights the importance of accurate diagnosis and prognostic evaluation.
FRONTIERS IN GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Ginevra Zanni, Cheng-Tsung Hsiao, Ssu-Ju Fu, Chih-Yung Tang, Alessandro Capuano, Luca Bosco, Federica Graziola, Emanuele Bellacchio, Serenella Servidei, Guido Primiano, Bing-Wen Soong, Chung-Jiuan Jeng
Summary: The KCND3 gene encodes the K(V)4.3 potassium channel highly expressed in the cerebellum, with two novel variants identified in patients with different types of ataxia. Functional studies showed reduced currents for both S347W and G345V mutants, and no detectable K+ current for the W359G mutant. The study highlights the importance of SCA gene screening for early-onset and congenital ataxia.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Neurosciences
G. Zanni, F. D'Abrusco, F. Nicita, S. Cascioli, M. Tosi, F. Corrente, V. Serpieri, R. Ciccone, M. Motta, G. Vasco, R. Carsetti, E. M. Valente, E. Bertini
Summary: The GPI anchor pathway is crucial for protein modification and cell function, with defects in the PIGQ gene leading to neurodevelopmental disorders. Clinical manifestations include congenital ataxia and related symptoms.
Article
Genetics & Heredity
Florence Riant, Lydie Burglen, Michaelle Corpechot, Julien Robert, Alexandra Durr, Guilhem Sole, Florence Petit, Cecile Freihuber, Olivier De Marco, Catherine Sarret, Giovanni Castelnovo, Francoise Devillard, Alexandra Afenjar, Benedicte Heron, Elisabeth Tournier Lasserve
Summary: Loss of function variants in the CACNA1A gene can cause a range of neurological disorders. This study investigated the potential effects of 11 unknown variants on splicing. In silico predictions and Sanger sequencing confirmed the presence of abnormal transcripts in 10 out of 11 patients, with nine being classified as deleterious. Targeted next-generation RNA sequencing successfully obtained the full cDNA sequence of CACNA1A and detected most of the abnormally spliced transcripts.
Article
Pediatrics
Weixi Li, Shuiyan Wu, Huizhong Xu, Xiaoying Zhao, Yizhi Pan, Hongbiao Huang, Haitao Lv, Xueping Zhu, Ying Liu
Summary: A novel BRAT1 variant R78P was identified in this study, expanding the spectrum of BRAT1 variants. R78P led to changes in BRAT1 expression and localization, but did not affect its function in mitochondria. Additionally, R78P was associated with a range of neurological conditions.
PEDIATRIC RESEARCH
(2022)
Article
Biochemistry & Molecular Biology
Camille Engel, Stephanie Valence, Geoffroy Delplancq, Reza Maroofian, Andrea Accogli, Emanuele Agolini, Fowzan S. Alkuraya, Valentina Baglioni, Irene Bagnasco, Mathilde Becmeur-Lefebvre, Enrico Bertini, Ingo Borggraefe, Elise Brischoux-Boucher, Ange-Line Bruel, Alfredo Brusco, Dalal K. Bubshait, Christelle Cabrol, Maria Roberta Cilio, Marie-Coralie Cornet, Christine Coubes, Olivier Danhaive, Valerie Delague, Anne-Sophie Denomme-Pichon, Marilena Carmela Di Giacomo, Martine Doco-Fenzy, Hartmut Engels, Kirsten Cremer, Marion Gerard, Joseph G. Gleeson, Delphine Heron, Joanna Goffeney, Anne Guimier, Frederike L. Harms, Henry Houlden, Michele Iacomino, Rauan Kaiyrzhanov, Benjamin Kamien, Ehsan Ghayoor Karimiani, Dror Kraus, Paul Kuentz, Kerstin Kutsche, Damien Lederer, Lauren Massingham, Cyril Mignot, Deborah Morris-Rosendahl, Lakshmi Nagarajan, Sylvie Odent, Clothilde Ormieres, Jennifer Neil Partlow, Laurent Pasquier, Lynette Penney, Christophe Philippe, Gianluca Piccolo, Cathryn Poulton, Audrey Putoux, Marlene Rio, Christelle Rougeot, Vincenzo Salpietro, Ingrid Scheffer, Amy Schneider, Siddharth Srivastava, Rachel Straussberg, Pasquale Striano, Enza Maria Valente, Perrine Venot, Laurent Villard, Antonio Vitobello, Johanna Wagner, Matias Wagner, Maha S. Zaki, Federizo Zara, Gaetan Lesca, Vahid Reza Yassaee, Mohammad Miryounesi, Farzad Hashemi-Gorji, Mehran Beiraghi, Farah Ashrafzadeh, Hamid Galehdari, Christopher Walsh, Antonio Novelli, Moritz Tacke, Dinara Sadykova, Yerdan Maidyrov, Kairgali Koneev, Chingiz Shashkin, Valeria Capra, Mina Zamani, Lionel Van Maldergem, Lydie Burglen, Juliette Piard
Summary: BRAT1 biallelic variants are associated with two syndromes, one is a severe phenotype with rigidity and multifocal seizure, and the other is a milder phenotype with cerebellar atrophy. Genotype-phenotype correlations show that different variants are associated with different phenotypes, with nonsense and frameshift variants causing the severe phenotype, missense variants more likely associated with the milder phenotype, and splice variants showing variable phenotypes.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Endocrinology & Metabolism
Romina Celeste Geysels, Carlos Eduardo Bernal Barquero, Mariano Martin, Victoria Peyret, Martina Nocent, Gabriela Sobrero, Liliana Munoz, Malvina Signorino, Graciela Testa, Ricardo Belisario Castro, Ana Maria Masini-Repiso, Mirta Beatriz Miras, Juan Pablo Nicola
Summary: This study identified a novel SLC5A5 gene variant causing ITD, which is a rare genetic disorder leading to congenital hypothyroidism. Experimental evidence showed that this gene variant results in abnormal NIS protein production in thyroid tissues and leads to a series of pathological abnormalities.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Clinical Neurology
Carlo Wilke, David Pellerin, David Mengel, Andreas Traschuetz, Matt C. Danzi, Marie-Josee Dicaire, Manuela Neumann, Holger Lerche, Benjamin Bender, Henry Houlden, Stephan Zuechner, Ludger Schoels, Bernard Brais, Matthis Synofzik
Summary: GAA-FGF14 ataxia is a common late-onset ataxia caused by intronic GAA repeat expansion in the FGF14 gene. This study characterized its phenotypic profile, natural history progression, and treatment response to 4-aminopyridine (4-AP). The results showed that GAA-FGF14 ataxia is typically late-onset with mild progression, and has a positive response to 4-AP treatment.
Article
Clinical Neurology
Jacob Bistritzer, Analia Mijalovsky, Andreea Nissenkorn, Hagit Flusser, Jacov Levy, Amit Nahum, Arnon Broides
Summary: Variant A-T patients with the same mutations in ATM exhibit variable phenotypes, likely influenced by environmental, epigenetic, and post-translational factors. Early onset truncal ataxia and increased risk of childhood malignancy are common features in some patients.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY
(2021)
Article
Clinical Neurology
David Mengel, Andreas Traschuetz, Selina Reich, Alejandra Leyva-Gutierrez, Friedemann Bender, Stefan Hauser, Tobias B. Haack, Matthis Synofzik
Summary: The study reports the first de novo occurrence of a heterozygous STUB1 variant, providing additional qualitative evidence for autosomal-dominant STUB1-disease. The findings suggest that loss-of-function may underlie autosomal-dominant STUB1-disease, similar to its autosomal-recessive counterpart in terms of the affected neurological systems.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Audrey Riquet, Pierre Cleuziou, Valentine Floret, Francois Quesque, Sabine Defoort, Thomas Smol
Summary: This article reports a case of a two-month-old infant with a de novo pathogenic variation of CACNA1G who presented with paroxysmal tonic upgaze (PTU) associated with congenital ataxia and other periodic neurological manifestations. Detailed video documentations of PTU, paroxysmal torticollis, and ataxia in a patient with a CACNA1G mutation are provided, allowing a better understanding of the underlying mechanisms of PTU and suggesting potential new avenues for clinical treatments.
PEDIATRIC NEUROLOGY
(2023)
Article
Immunology
Jill Hutton, Paul J. Rowan
Summary: The study aimed to estimate vertical transmission rates in twins versus singletons, examine discordance within twin pairs, and characterize concordance in monozygotic and dizygotic twins regarding hereditability. Results show a higher vertical transmission rate of congenital CMV in twins compared to singletons, non-rare discordance in twin pairs, and suggest a possible genetic susceptibility to congenital CMV.
FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY
(2021)
Article
Immunology
Geraldine Blanchard-Rohner, Anna Peirolo, Ludivine Coulon, Christian Korff, Judit Horvath, Pierre R. Burkhard, Fabienne Gumy-Pause, Emmanuelle Ranza, Peter Jandus, Harpreet Dibra, Alexander Malcolm R. Taylor, Joel Fluss
Summary: Ataxia-telangiectasia (A-T) is a neurodegenerative and primary immunodeficiency disorder characterized by various symptoms. This study presents a case series highlighting the phenotypic variability of A-T and emphasizes the importance of early diagnosis of variant A-T and classical A-T.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Clinical Neurology
Annalaura Torella, Ivana Ricca, Giulio Piluso, Daniele Galatolo, Giuseppe De Michele, Mariateresa Zanobio, Rosanna Trovato, Giovanna De Michele, Roberta Zeuli, Chiara Pane, Sirio Cocozza, Francesco Sacca, Filippo M. Santorelli, Vincenzo Nigro, Alessandro Filla
Summary: In this study, we identified a novel likely pathogenic variant in the TUBA4A gene in two families with spastic ataxia. Our findings expand the phenotypic and genetic manifestations of TUBA4A variants, and highlight the importance of considering this new type of spastic ataxia in the differential diagnosis.
JOURNAL OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Ashanta Merriweather, David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick, Sarah Nicholas, Richard A. Lewis, Carlos A. Bacino, Daryl A. Scott, Brendan Lee, Vernon Reid Sutton, Lorraine Potocki, Lindsay C. Burrage
Summary: This study presents the first case of White-Sutton syndrome (WHSUS) caused by a de novo intronic variant in POGZ, which is not near a canonical splice site. It highlights the limitations of standard clinical exome filtering algorithms and emphasizes the importance of research reanalysis of exome data together with RNA sequencing to confirm a suspected diagnosis of WHSUS.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Genetics & Heredity
Silvia Kalantari, Marta Di Biagio, Enza Maria Valente, Elena Rossi, Fabio Sirchia
Summary: Williams syndrome is a genetic disorder caused by heterozygous microdeletions in the 7q11.23 chromosome region. This syndrome is characterized by distinct facial features, cardiovascular and endocrine abnormalities, short stature, mild-to-moderate intellectual disability, and specific cognitive and behavioral traits. This study reports a 51-year-old female patient with typical features of Williams syndrome, and identified a germline mosaicism of 54%-68% for 7q11.23 deletion through chromosomal microarray analysis and fluorescence in situ hybridization.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Clinical Neurology
Michal Gafner, Eugen Boltshauser, Fulvio D'Abrusco, Roberta Battini, Romina Romaniello, Stefano D'Arrigo, Ginevra Zanni, Zvi Leibovitz, Keren Yosovich, Tally Lerman-Sagie
Summary: This study assesses whether microcephaly with pontine and cerebellar hypoplasia (MICPCH) could manifest in the prenatal period in patients with calcium/calmodulin-dependent serine protein kinase (CASK) gene disorders. The results show evidence of smaller prenatal head circumference and progressive deceleration of head circumference growth rate, suggesting the need for consecutive measurements and genetic studies in the prenatal period.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY
(2023)
Article
Clinical Neurology
Sara Brunetti, Serena Micheletti, Ilaria Palmieri, Enza Maria Valente, Elisa Fazzi
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Clinical Neurology
Giovanna De Michele, Gianluigi Rosario Palmieri, Chiara Pane, Enza Maria Valente, Ilaria Palmieri, Carmen Diletta Paola Dello Iacovo, Nunzia Cuomo, Augusta Giglio, Natascia De Lucia, Tommasina Fico, Sandra Perillo, Giuseppe De Michele, Anna De Rosa
Summary: The aim of this study was to compare motor and non-motor symptoms between patients with GBA-related PD (GBA-PD) and idiopathic PD (iPD) using standardized and validated scales. The results showed that GBA-PD patients had a more severe and rapidly progressive disease, and more frequent positive family history for PD, akinetic-rigid phenotype, postural instability, dementia, and psychosis compared to iPD patients.
ACTA NEUROLOGICA BELGICA
(2023)
Article
Genetics & Heredity
Jessica Galli, Enza Maria Valente, Joseph Dewulf, Alessandra Franzoni, Sandrine Marie, Massimo Plumari, Federica Zanetti, Elisa Fazzi
Summary: 5-Amino-4-imidazolecarboxamide-ribosiduria (AICA-ribosiduria) is an extremely rare inborn error of purine biosynthesis metabolism. This study reports two new cases of AICA-ribosiduria with milder symptoms compared to previously reported patients. The study also found abnormal accumulation of purine biosynthesis intermediates in the urine of these patients.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Clinical Neurology
Caterina Caputi, Giulia Federici, Silvia Soddu, Lorena Travaglini, Maria Piane, Enrico Bertini, Ginevra Zanni, Vincenzo Leuzzi
Summary: This study investigates the clinical presentations and genetic characteristics of three patients with early-onset truncal ataxia. Despite the absence of typical neurological deterioration and biological markers of classic A-T phenotype, two known ATM gene variants were detected in these patients.
MOVEMENT DISORDERS CLINICAL PRACTICE
(2023)
Article
Genetics & Heredity
Paulina Cunha, Emilien Petit, Marie Coutelier, Giulia Coarelli, Caterina Mariotti, Jennifer Faber, Judith Van Gaalen, Joana Damasio, Zofia Fleszar, Michele Tosi, Clarissa Rocca, Giovanna De Michele, Martina Minnerop, Claire Ewenczyk, Filippo M. Santorelli, Anna Heinzmann, Thomas Bird, Matthias Amprosi, Elisabetta Indelicato, Alberto Benussi, Perrine Charles, Claudia Stendel, Silvia Romano, Marina Scarlato, Isabelle Le Ber, Maria Teresa Bassi, Mercedes Serrano, Tanja Schmitz-Hubsch, Sarah Doss, Gijs A. J. Van Velzen, Quentin Thomas, Antonio Trabacca, Juan Dario Ortigoza-Escobar, Stefano D'Arrigo, Dagmar Timmann, Chiara Pantaleoni, Andrea Martinuzzi, Elsa Besse-Pinot, Luca Marsili, Ettore Cioffi, Francesco Nicita, Alejandro Giorgetti, Isabella Moroni, Romina Romaniello, Carlo Casali, Penina Ponger, Giorgio Casari, Susanne T. De Bot, Giovanni Ristori, Lubov Blumkin, Barbara Borroni, Cyril Goizet, Cecilia Marelli, Sylvia Boesch, Mathieu Anheim, Alessandro Filla, Henry Houlden, Enrico Bertini, Thomas Klopstock, Matthis Synofzik, Florence Riant, Ginevra Zanni, Stefania Magri, Daniela Di Bella, Lorenzo Nanetti, Jorge Sequeiros, Jorge Oliveira, Bart Van de Warrenburg, Ludger Schoels, Franco Taroni, Alexis Brice, Alexandra Durr
Summary: Although most spinocerebellar ataxias (SCAs) are caused by triplet repeat expansions, there are many SCAs that are not. This study screened individuals with variants in non-expansion SCA-associated genes and identified 756 subjects with single-nucleotide variants or deletions in seven different genes. Comparison of disease features and progression revealed no reliable distinguishing factors between these SCAs, and certain genes were associated with both adult-onset and infantile-onset forms of the disease. However, the overall progression of the disease was slow, with STUB1-associated disease progressing the fastest. Variants in CACNA1A showed wide ranges in age at onset, and the type of variant and protein charge change greatly affected the phenotype.
AMERICAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Genetics & Heredity
Simone Gana, Valentina Serpieri, Elisa Giorgio, Melanie Iorio, Elisa Rognone, Anna Pichiecchio, Matteo Chiappedi, Enza Maria Valente
Summary: Heterozygous pathogenic variants of the NFIB gene are associated with developmental delay, intellectual disability, macrocephaly, facial dysmorphisms, and corpus callosum dysgenesis.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Clinical Neurology
Andreas D. Traschuetz, Astrid Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bernard Brais, Cynthia Gagnon, Janina Gburek-Augustat, Sarah Doss, Hasmet A. Hanagasi, Christoph Kamm, Peter Klivenyi, Thomas Klockgether, Thomas Klopstock, Martina Minnerop, Alexander Muenchau, Mathilde M. Renaud, Filippo Santorelli, Ludger Schoels, Andreas Thieme, Stefan P. Vielhaber, Bart van de Warrenburg, Ginevra Zanni, Ralf-Dieter Hilgers, Matthis Synofzik
Summary: This study comprehensively characterizes the performance and responsiveness of the SARA in different subtypes of ataxia, and suggests specific approaches for optimizing its responsiveness.
ANNALS OF NEUROLOGY
(2023)
Article
Genetics & Heredity
Mauro Lecca, Maria Francesca Bedeschi, Claudia Izzi, Chiara Dordoni, Berardo Rinaldi, Francesca Peluso, Stefano Giuseppe Caraffi, Federico Prefumo, Marino Signorelli, Matteo Zanzucchi, Silvia Bione, Claudia Ghigna, Silvia Sassi, Antonio Novelli, Enza Maria Valente, Andrea Superti-Furga, Livia Garavelli, Edoardo Errichiello
Summary: Spondylocostal dysostosis (SCD) is a condition caused by gene variants in the Notch signaling pathway. This study reports on two newborns and one fetus with SCD, who were found to carry LFNG gene variants through exome sequencing. The findings refine the understanding of the clinical and molecular features of SCD3 and highlight the usefulness of trio-based exome sequencing in prenatal and neonatal settings.
Article
Genetics & Heredity
Valentina Serpieri, Giulia Mortarini, Hailey Loucks, Tommaso Biagini, Alessia Micalizzi, Ilaria Palmieri, Jennifer C. Dempsey, Fulvio D'Abrusco, Concetta Mazzotta, Roberta Battini, Enrico Silvio Bertini, Eugen Boltshauser, Renato Borgatti, Knut Brockmann, Stefano D'Arrigo, Nardo Nardocci, Rita Fischetto, Emanuele Agolini, Antonio Novelli, Alfonso Romano, Romina Romaniello, Franco Stanzial, Sabrina Signorini, Pietro Strisciuglio, Simone Gana, Tommaso Mazza, Dan Doherty, Enza Maria Valente
Summary: This study reports 11 recurring variants in Joubert syndrome patients, including three founder variants in specific populations. The variants were significantly enriched in the European Joubert syndrome cohort and showed different enrichments in American patients. Four new European founder haplotypes were also identified. Additionally, two variants were suggested to be hypomorphic variants.
JOURNAL OF MEDICAL GENETICS
(2023)
Letter
Clinical Neurology
Andreas Traschuetz, Astrid D. Adarmes-Gomez, Mathieu Anheim, Jonathan Baets, Bjoern H. Falkenburger, Janina Gburek-Augustat, Sarah Doss, Christoph Kamm, Peter Klivenyi, Marcus Grobe-Einsler, Thomas Klopstock, Martina Minnerop, Alexander Muenchau, Chiara Pane, Mathilde Renaud, Filippo M. Santorelli, Ludger Schoels, Dagmar Timmann, Stefan Vielhaber, Tobias B. Haack, Bart P. van de Warrenburg, Ginevra Zanni, Matthis Synofzik
MOVEMENT DISORDERS
(2023)
Review
Biology
Valentina Baglioni, Silvia Orecchio, Dario Esposito, Noemi Faedda, Giulia Natalucci, Vincenzo Guidetti
Summary: In pediatric neurology, tension-type headache (TTH) is a common primary headache among children. However, it is often underestimated and difficult to differentiate from secondary and other primary headaches in childhood. There can be clinical overlap between migraine and TTH in children, with migraine attacks presenting tension headache-like features and TTH displaying migraine-like symptoms. Factors such as hormonal changes, triggers, and genetic and epigenetic factors play a role in the complex trajectory of headache evolution. This review aims to summarize the literature on the differential diagnosis of TTH in pediatrics, the possible outcomes during development, and appropriate therapeutic strategies.
Article
Multidisciplinary Sciences
Katie L. Ayers, Stefanie Eggers, Ben N. Rollo, Katherine R. Smith, Nadia M. Davidson, Nicole A. Siddall, Liang Zhao, Josephine Bowles, Karin Weiss, Ginevra Zanni, Lydie Burglen, Shay Ben-Shachar, Jenny Rosensaft, Annick Raas-Rothschild, Anne Jorgensen, Ralf B. Schittenhelm, Cheng Huang, Gorjana Robevska, Jocelyn van den Bergen, Franca Casagranda, Justyna Cyza, Svenja Pachernegg, David K. Wright, Melanie Bahlo, Alicia Oshlack, Terrence J. O'Brien, Patrick Kwan, Peter Koopman, Gary R. Hime, Nadine Girard, Chen Hoffmann, Yuval Shilon, Amnon Zung, Enrico Bertini, Mathieu Milh, Bochra Ben Rhouma, Neila Belguith, Anu Bashamboo, Kenneth MacElreavey, Ehud Banne, Naomi Weintrob, Bruria BenZeev, Andrew H. Sinclair
Summary: The study identifies recessive variants in the SART3 gene in individuals with intellectual disability, global developmental delay, brain anomalies, and gonadal dysgenesis. Functional experiments reveal the role of SART3 in testicular and neuronal development. The findings suggest a new spliceosomopathy syndrome (INDYGON syndrome) and offer potential for improved diagnosis and treatment.
NATURE COMMUNICATIONS
(2023)
Article
Biochemistry & Molecular Biology
Paola De Filippi, Edoardo Errichiello, Antonio Toscano, Tiziana Mongini, Maurizio Moggio, Sabrina Ravaglia, Massimiliano Filosto, Serenella Servidei, Olimpia Musumeci, Fabio Giannini, Alberto Piperno, Gabriele Siciliano, Giulia Ricci, Antonio Di Muzio, Miriam Rigoldi, Paola Tonin, Michele Giovanni Croce, Elena Pegoraro, Luisa Politano, Lorenzo Maggi, Roberta Telese, Alberto Lerario, Cristina Sancricca, Liliana Vercelli, Claudio Semplicini, Barbara Pasanisi, Bruno Bembi, Andrea Dardis, Ilaria Palmieri, Cristina Cereda, Enza Maria Valente, Cesare Danesino
Summary: Pompe disease is a genetic disorder caused by mutations in the GAA gene that result in glycogen storage in lysosomes, particularly in muscle tissue. The relationship between genotype and phenotype has been extensively discussed, suggesting that other genetic variants may influence the clinical presentation. In this study, we identified potentially relevant variants in genes related to glycogen synthesis and catabolism in late-onset Pompe disease patients.
CURRENT ISSUES IN MOLECULAR BIOLOGY
(2023)