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
V. Destrebecq, C. Comet, F. Deveylder, N. Alaerts, G. Naeije
Summary: This study aimed to assess the main determinant of cerebellar cognitive affective syndrome (CCAS) in individuals with Friedreich's ataxia (FRDA). The study found that CCAS is highly prevalent in adult individuals with FRDA, and the severity of ataxic motor symptoms is an important factor in predicting CCAS.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Roderick P. P. W. M. Maas, Sven Killaars, Bart P. C. van de Warrenburg, Dennis J. L. G. Schutter
Summary: The CCAS-S is effective in identifying cognitive deficits in SCA3 patients, showing a high discriminative ability and correlating with disease severity measures.
JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Laszlo Szpisjak, Andras Salamon, Viola L. Nemeth, Noemi Szepfalusi, Zoltan Maroti, Tibor Kalmar, Aliz Zimmermann, Denes Zadori, Peter Klivenyi
Summary: This study reported the first Hungarian SCA48 patient caused by a novel STUB1 missense mutation. The patient exhibited characteristic neuropsychiatric symptoms and brain MRI abnormalities.
IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE
(2023)
Article
Neurosciences
Elizabeth Alejandra de la Cruz Cordoba, Juan Antonio Gonzalez Medrano, Patricia Herrera Mora, Gilberto Gomez-Garza, Maria Edith Gonzalez-Serrano, Marco Antonio Yamazaki-Nakashimada, Carmen Alicia Correa-Ramirez
Summary: Ataxia-telangiectasia (A-T) is a disease caused by mutations in the ATM gene, characterized by ataxia, mucocutaneous telangiectasia, immunodeficiency, and malignancy. Patients with A-T also experience neurocognitive and emotional disorders, showing features of cerebellar cognitive affective syndrome (CCAS). This study investigated the neurocognitive and emotional state of 9 pediatric patients with A-T and found impaired executive functioning, visual-motor integration and abilities, language problems, emotional disorders, and ataxia.
Article
Rheumatology
Yushiro Endo, Tomohiro Koga, Hiroki Otaki, Daisuke Sasaki, Remi Sumiyoshi, Kaori Furukawa, Yoshimasa Tanaka, Yanagihara Katsunori, Atsushi Kawakami
Summary: This report describes a Japanese patient with iMCD who was found to have a novel mutation in the MEFV gene. Molecular dynamics simulations showed that this mutation altered the local interactions of the human pyrin B30.2 domain. The patient was successfully treated with an IL-6 inhibitor and has remained in remission for 12 months.
Article
Clinical Neurology
Yuliia V. Nikonishyna, Nadine J. Ortner, Teresa Kaserer, Jessica Hoffmann, Saskia Biskup, Manuel Dafotakis, Kathrin Reetz, Joerg B. Schulz, Jorg Striessnig, Maike F. Dohrn
Summary: The novel C256F variant in the Cav2.1 Ca2+ channel alpha 1-subunit is found to have pathogenicity in SCA, affecting channel function and contributing to the disease phenotype.
MOVEMENT DISORDERS
(2022)
Article
Clinical Neurology
Elli Katharine Greisenegger, Sara Llufriu, Angel Chamorro, Alvaro Cervera, Adriano Jimenez-Escrig, Klemens Rappersberger, Wolfgang Marik, Stefan Greisenegger, Elisabeth Stoegmann, Tamara Kopp, Tim M. Strom, Joerg Henes, Anne Joutel, Alexander Zimprich
Summary: Sneddon syndrome is a rare disorder that affects small and medium-sized blood vessels, characterized by livedo reticularis and stroke. Research findings suggest that impaired NOTCH3 signaling is a potential disease mechanism and bi-allelic loss-of-function mutations in NOTCH3 may be a cause of familial stroke in Sneddon syndrome.
JOURNAL OF NEUROLOGY
(2021)
Article
Endocrinology & Metabolism
Feng Jiang, Jing Yan, Rong Zhang, Xiaojing Ma, Yuqian Bao, Yujuan Gu, Cheng Hu
Summary: This study identified a novel MODY2 mutation p.Ala259Thr in Chinese diabetes pedigrees and confirmed through kinetic and thermal stability analysis that this mutation causes hyperglycemia by severely damaging enzyme activities and protein stability.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Article
Pharmacology & Pharmacy
Daniel Gaudet, Andrea Ruzza, Ian Bridges, Paul Maruff, Adrian Schembri, Andrew Hamer, Francois Mach, Jean Bergeron, Isabelle Gaudet, Julie St Pierre, John J. P. Kastelein, G. . Kees Hovingh, Albert Wiegman, Frederick J. Raal, Raul D. Santos, HAUSER-RCT Investigators
Summary: The effects of evolocumab on cognitive function in pediatric patients with familial hypercholesterolemia were evaluated in a 24-week study. The results showed that treatment with evolocumab for 24 weeks did not negatively influence cognition, with similar changes in cognitive test scores compared to the placebo group. The frequency of cognitive decline was lower in the evolocumab group.
JOURNAL OF CLINICAL LIPIDOLOGY
(2022)
Article
Medicine, General & Internal
Tolga Cimen, Argelia Medeiros-Domingo, Antonios Kolios, Deniz Akdis, Shehab Anwer, Felix C. C. Tanner, Corinna Brunckhorst, Firat Duru, Ardan M. M. Saguner
Summary: In this case report, a 58-year-old male patient with cardiomyopathy and palmoplantar keratosis is described. Genetic testing revealed a novel variant in the desmoplakin gene, suggesting the presence of Cardiocutaneous syndrome. Repeated genetic testing is clinically significant, especially in patients with a high probability of a specific inherited cardiac disease, to improve diagnostic accuracy.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Yasaman Pakdaman, Siren Berland, Helene J. Bustad, Sigrid Erdal, Bryony A. Thompson, Paul A. James, Kjersti N. Power, Stale Ellingsen, Martin Krooni, Line I. Berge, Adrienne Sexton, Laurence A. Bindoff, Per M. Knappskog, Stefan Johansson, Ingvild Aukrust
Summary: Variants in STUB1 can cause both autosomal recessive SCAR16 and dominant SCA48, with novel dominantly inherited STUB1 variants in patients showing symptoms after 30 years of age, cerebellar atrophy, and cognitive/psychiatric phenotypes. Studies on the molecular properties of these dominant variants revealed impaired ubiquitin ligase activity and altered oligomerization properties of the CHIP, expanding the understanding of SCA48 and suggesting a need for re-evaluation of assumptions about unaffected carriers of recessive STUB1 variants in SCAR16 families. Further investigations are needed to verify the disease status of SCAR16 heterozygotes and elucidate the molecular relationship between SCA48 and SCAR16 diseases.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Ruo-Nan Duan, Dan-Dan Zhao, Yi-Ming Liu, Chuan-Zhu Yan
Summary: This study reported a case of PFBC in a Chinese pedigree with a heterozygous deletion of PDGFB, providing evidence of haploinsufficiency in the pathogenesis of PFBC.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Neurosciences
Meixin Hu, Huiping Li, Zhuxi Huang, Dongyun Li, Ying Xu, Qiong Xu, Bo Chen, Yi Wang, Jingxin Deng, Ming Zhu, Weijun Feng, Xiu Xu
Summary: Mutations in the STAMBP gene are associated with global developmental delay, microcephaly, and capillary malformation, but the functional and phenotypic characteristics of these mutations require further elucidation. A novel pathogenic mutation in STAMBP was identified in this study, which impairs the proliferation of neural stem cells and leads to microcephaly.
FRONTIERS IN NEUROSCIENCE
(2022)
Article
Medicine, Research & Experimental
Ming-Ming Liu, Jia Peng, Yuan-Lin Guo, Cheng-Gang Zhu, Na-Qiong Wu, Rui-Xia Xu, Qian Dong, Jian-Jun Li
Summary: The presence of physical signs (tendon xanthomas and/or corneal arcus) in patients with heterozygous familial hypercholesterolemia is associated with higher LDL cholesterol levels, PCSK9 or hsCRP concentrations, LDLR positive mutations, and higher prevalence of coronary stenosis or calcification. Patients with these physical signs had a significantly higher incidence of cardiovascular events over a 3.7 year follow-up, suggesting that these signs may help in risk stratification in these patients.
JOURNAL OF TRANSLATIONAL MEDICINE
(2021)
Article
Clinical Neurology
D. Santos Garcia, N. Lopez Ariztegui, E. Cubo, A. Vinagre Aragon, R. Garcia-Ramos, C. Borrue, G. Fernandez-Pajarin, N. Caballol, I. Cabo, J. M. Barrios-Lopez, J. Hernandez Vara, M. A. Avila Rivera, C. Gasca-Salas, S. Escalante, P. Manrique de Lara, R. Perez Noguera, M. Alvarez Sauco, M. Sierra, M. H. G. Monje, A. Sanchez Ferro, S. Novo Ponte, F. Alonso-Frech, D. Macias-Garcia, I. Legarda, A. Rojo, I. Alvarez Fernandez, M. T. Buongiorno, P. Pastor, P. Garcia Ruiz
Summary: STAT-ON (TM) is an objective tool that registers ON-OFF fluctuations in Parkinson's disease patients. A survey was conducted to evaluate the opinion of Parkinson's disease experts after using the device in a real clinical practice setting. The results showed that the majority of experts considered STAT-ON (TM) to be a useful tool for clinical practice in Parkinson's disease patients.
Article
Neurosciences
Diego Santos Garcia, Hector Canfield, Teresa de Deus Fonticoba, Carlos Cores Bartolome, Lucia Naya Rios, Lucia Garcia Roca, Cristina Martinez Miro, Silvia Jesus, Miquel Aguilar, Pau Pastor, Marina Cosgaya, Juan Garcia Caldentey, Nuria Caballol, Ines Legarda, Jorge Hernandez Vara, Iria Cabo, Lydia Lopez Manzanares, Isabel Gonzalez Aramburu, Maria A. Avila Rivera, Victor Gomez Mayordomo, Victor Nogueira, Victor Puente, Julio Dotor, Carmen Borrue, Berta Solano Vila, Maria Alvarez Sauco, Lydia Vela, Sonia Escalante, Esther Cubo, Francisco Carrillo Padilla, Juan C. Martinez Castrillo, Pilar Sanchez Alonso, Maria G. Alonso Losada, Nuria Lopez Ariztegui, Itziar Gaston, Jaime Kulisevsky, Marta Blazquez Estrada, Manuel Seijo, Javier Ruiz Martinez, Caridad Valero, Monica Kurtis, Oriol de Fabregues, Jessica Gonzalez Ardura, Ruben Alonso Redondo, Carlos Ordas, Luis M. Lopez Diaz, Darrian McAfee, Pablo Martinez-Martin, Pablo Mir
Summary: This study analyzed the changes in motor phenotype (MP) over time in Spanish Parkinson's disease (PD) patients. The study found that with disease progression, the proportion of non-tremor dominant cases increased and patients who changed from tremor dominant to postural instability and gait difficulty phenotype showed a significant increase in non-motor symptom burden (NMS).
JOURNAL OF PARKINSONS DISEASE
(2022)
Review
Health Care Sciences & Services
Marie Nicole Hamel, Susanny J. Beltran
Summary: This article reviews the perspectives of parents on neonatal palliative care (NPC). The findings indicate that parent-clinician interactions, parent-infant interactions, and parent-self interactions are key factors influencing their experiences and satisfaction with NPC.
AMERICAN JOURNAL OF HOSPICE & PALLIATIVE MEDICINE
(2023)
Article
Clinical Neurology
Philippe Corcia, Pascal Lejeune, Patrick Vourc'h, Stephane Beltran, Anne-Sophie Piegay, Helene Blasco, Vincent Meininger
Summary: This study characterized the prototypical phenotype of patients with amyotrophic lateral sclerosis (ALS) associated with PFN1 mutations and identified clinical indications for testing mutations in this gene. The main clinical findings for familial ALS linked to PFN1 were identified as pedigrees with over five cases, an onset age around 50 years, onset in the lower limbs, and the absence of cognitive impairment. The similarities with other ALS mutations prompt a review of ALS classifications based on both phenotype and genotype.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Biochemistry & Molecular Biology
Marta Codina-Sola, Laura Trujillano, Anna Abuli, Eulalia Rovira-Moreno, Patricia Munoz-Cabello, Berta Campos, Paula Fernandez-alvarez, Dolors Palau, Estela Carrasco, Irene Valenzuela, Anna Maria. Cueto-Gonzalez, Amaia Lasa-Aranzasti, Javier Limeres, Jordi Leno-Colorado, Mar Costa-Roger, Alejandro Moles-Fernandez, Judith Balmana, Orland Diez, Ivon Cusco, Elena Garcia-Arumi, Eduardo Fidel Tizzano
Summary: This study investigated the acceptance rate of secondary findings (SFs) and factors associated with their acceptance in a cohort of patients with rare genetic disorders in a Spanish hospital. The results showed that the majority of families wanted to be informed of SFs, and the acceptance of SFs was associated with prenatal setting, consanguinity, gender, and being a minor. Disclosure of SFs increased the percentage of positive family histories and resulted in clinically meaningful changes in the medical management of individuals.
EUROPEAN JOURNAL OF HUMAN GENETICS
(2023)
Article
Biochemistry & Molecular Biology
Pablo Garcia-Gonzalez, Itziar de Rojas, Sonia Moreno-Grau, Laura Montrreal, Raquel Puerta, Emilio Alarcon-Martin, Ines Quintela, Adela Orellana, Victor Andrade, Pamela V. Martino Adami, Stefanie Heilmann-Heimbach, Pilar Gomez-Garre, Maria Teresa Perinan, Ignacio Alvarez, Monica Diez-Fairen, Raul Nunez Llaves, Claudia Olive Roig, Guillermo Garcia-Ribas, Manuel Menendez-Gonzalez, Carmen Martinez, Miquel Aguilar, Mariateresa Buongiorno, Emilio Franco-Macias, Maria Eugenia Saez, Amanda Cano, Maria J. Bullido, Luis Miguel Real, Eloy Rodriguez-Rodriguez, Jose Luis Royo, Victoria Alvarez, Pau Pastor, Gerard Pinol-Ripoll, Pablo Mir, Miguel Calero Lara, Miguel Medina Padilla, Pascual Sanchez-Juan, Angel Carracedo, Sergi Valero, Isabel Hernandez, Lluis Tarraga, Alfredo Ramirez, Merce Boada, Agustin Ruiz
Summary: Mosaic loss of chromosome Y (mLOY) is a common somatic event associated with Alzheimer's disease (AD) and can be age-confounded in genome-wide association studies. This study used Mendelian randomisation to construct an age-independent mLOY polygenic risk score (mloy-PRS) and found that higher genetic risk for mLOY was associated with faster progression to AD in men with mild cognitive impairment. The study suggests that mLOY is involved in AD pathogenesis and shows associations with cerebrospinal fluid biomarkers.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Clinical Neurology
Diego Santos-Garcia, Teresa de Deus Fonticoba, Carlos Cores Bartolome, Maria J. Feal Painceiras, Jose M. Paz Gonzalez, Cristina Martinez Miro, Silvia Jesus, Miquel Aguilar, Pau Pastor, Lluis Planellas, Marina Cosgaya, Juan Garcia Caldentey, Nuria Caballol, Ines Legarda, Jorge Hernandez Vara, Iria Cabo, Lydia Lopez Manzanares, Isabel Gonzalez Aramburu, Maria A. Avila Rivera, Victor Gomez Mayordomo, Victor Nogueira, Victor Puente, Julio Dotor Garcia-Soto, Carmen Borrue, Berta Solano Vila, Maria Alvarez Sauco, Lydia Vela, Sonia Escalante, Esther Cubo, Francisco Carrillo Padilla, Juan C. Martinez Castrillo, Pilar Sanchez Alonso, Maria G. Alonso Losada, Nuria Lopez Ariztegui, Itziar Gaston, Jaime Kulisevsky, Marta Blazquez Estrada, Manuel Seijo, Javier Ruiz Martinez, Caridad Valero, Monica Kurtis, Oriol de Fabregues, Jessica Gonzalez Ardura, Ruben Alonso Redondo, Carlos Ordas, Luis M. L. Lopez Diaz, Darrian McAfee, Pablo Martinez-Martin, Pablo Mir
Summary: Visual hallucinations and subjective cognitive complaints in Parkinson's disease are associated with cognitive impairment. This study aimed to determine the association between visual hallucinations and cognitive complaints and the risk of developing cognitive impairment in Parkinson's disease patients with normal cognition. The results showed that visual hallucinations were associated with the development of cognitive impairment, and the presence of both visual hallucinations and cognitive complaints increased the probability of developing cognitive impairment.
JOURNAL OF CLINICAL NEUROLOGY
(2023)
Review
Geriatrics & Gerontology
Xiaochuan Wang, Susanny Beltran, Rachael Burns, Marie Hamel, Sydney Gray, Kim Gryglewicz
Summary: Suicide is a major public health concern worldwide, especially among middle- to old-age adults. Help-seeking is an important coping mechanism that can mitigate suicide risk. However, there is limited knowledge about help-seeking for suicide risk in these age groups. A systematic review was conducted to address this knowledge gap and provide a refined understanding of help-seeking behaviors among middle- to old-age adults.
INNOVATION IN AGING
(2023)
Article
Engineering, Chemical
Esther Trigueros, Cipriano Ramos, Patricia Alonso-Riano, Sagrario Beltran, Maria Teresa Sanz
Summary: The feasibility of scaling up industrial subcritical water treatment of Gelidium sesquipedale residue from lab to pilot system in discontinuous mode was investigated. The pilot plant showed faster extraction/hydrolysis at 175 degrees C, but similar maximum yields compared to the lab-scale, while proteins accounted for nearly 40% of the yields. The study also demonstrated successful results at higher biomass loading in the pilot scale, supporting the feasibility of the scaling-up process.
INDUSTRIAL & ENGINEERING CHEMISTRY RESEARCH
(2023)
Article
Clinical Neurology
Pierre-Emmanuel Sugier, Elise A. Lucotte, Cloe Domenighetti, Matthew H. Law, Mark M. Iles, Kevin Brown, Christopher Amos, James D. McKay, Rayjean J. Hung, Mojgan Karimi, Delphine Bacq-Daian, Anne Boland-Auge, Robert Olaso, Jean-francois Deleuze, Fabienne Lesueur, Evgenia Ostroumova, Ausrele Kesminiene, Florent de Vathaire, Pascal Guenel, Ashwin Ashok Kumar Sreelatha, Claudia Schulte, Sandeep Grover, Patrick May, Dheeraj R. Bobbili, Milena Radivojkov-Blagojevic, Peter Lichtner, Andrew B. Singleton, Dena G. Hernandez, Connor Edsall, George D. Mellick, Alexander Zimprich, Walter Pirker, Ekaterina Rogaeva, Anthony E. Lang, Sulev Koks, Pille Taba, Suzanne Lesage, Alexis Brice, Jean-Christophe Corvol, Marie-Christine Chartier-Harlin, Eugenie Mutez, Kathrin Brockmann, Angela B. Deutschlaender, Georges M. Hadjigeorgiou, Efthimios Dardiotis, Leonidas Stefanis, Athina Maria Simitsi, Enza Maria Valente, Simona Petrucci, Letizia Straniero, Anna Zecchinelli, Gianni Pezzoli, Laura Brighina, Carlo Ferrarese, Grazia Annesi, Andrea Quattrone, Monica Gagliardi, Hirotaka Matsuo, Akiyoshi Nakayama, Nobutaka Hattori, Kenya Nishioka, Sun Ju Chung, Yun Joong Kim, Pierre Kolber, Bart P. C. van de Warrenburg, Bastiaan R. Bloem, Jan Aasly, Mathias Toft, Lasse Pihlstrom, Leonor Correia Guedes, Joaquim J. Ferreira, Soraya Bardien, Jonathan Carr, Eduardo Tolosa, Mario Ezquerra, Pau Pastor, Monica Diez-Fairen, Karin Wirdefeldt, Nancy Pedersen, Caroline Ran, Andrea C. Belin, Andreas Puschmann, Emil Ygland Roedstroem, Carl E. Clarke, Karen E. Morrison, Manuela Tan, Dimitri Krainc, Lena F. Burbulla, Matt J. Farrer, Rejko Kruger, Thomas Gasser, Manu Sharma, Therese Truong, Alexis Elbaz
Summary: By using genome-wide association studies, this study found that Parkinson's disease (PD) is genetically correlated with melanoma and prostate cancer, while it is inversely correlated with ovarian cancer. These findings suggest that pleiotropic genes contribute to the association between PD and specific cancers.
MOVEMENT DISORDERS
(2023)
Article
Engineering, Chemical
Patricia Alonso-Riano, Alba E. Illera, Mariana S. T. Amandio, Ana M. R. B. Xavier, Sagrario Beltran, M. Teresa Sanz
Summary: This study focuses on developing a sustainable process for utilizing brewer's spent grain (BSG), a major by-product of the brewing industry. A two-step process combining subcritical water treatment and pervaporation was proposed for hydrolyzing the hemicellulose fraction of BSG and removing/recovering degradation products using polydimethylsiloxane (PDMS) and polyoctilmethylsiloxane (POMS) membranes. Furfural, an important biomass-based chemical, was found to have higher enrichment factors with POMS membranes. In subcritical water hydrolysates, POMS membranes achieved the highest furfural recovery of 94.1% with permeate concentrations as high as 40 g.L-1. Pervaporation was also evaluated as a suitable detoxification method, producing a retentate nearly free of furfural for microbial bioprocesses.
SEPARATION AND PURIFICATION TECHNOLOGY
(2023)
Article
Neurosciences
Martin Martinez, Mikel Ariz, Ignacio Alvarez, Gabriel Castellanos, Miquel Aguilar, Jorge Hernandez-Vara, Nuria Caballol, Alicia Garrido, Angels Bayes, Dolores Vilas, Maria Jose Marti, Pau A. Pastor, Carlos Ortiz de Solorzano, Maria Pastor
Summary: Quantifying and locating brainstem NM and iron through MRI can reveal specific patterns linked to LRRK2-PD or iPD. PD patients had lower NM CR and nVol in ventral-caudal SNc, while iron increased in lateral, medial-rostral, and caudal SNc. LC CR and nVol were better discriminators among subgroups, with LRRK2-PD showing similar LC NM CR and nVol as controls and larger LC NM nVol and RN iron CR than iPD. SNc NM was the best discriminator between HC and PD according to ROC analysis.
NPJ PARKINSONS DISEASE
(2023)
Article
Neurosciences
Danique Beijer, Brent Fogel, Sergi Beltran, Matt Danzi, Andrea Nemeth, Stephan Zuchner, Matthis Synofzik
Summary: The Ataxia Global Initiative (AGI) is a global research platform aiming to enhance trial-readiness in degenerative ataxias. The AGI NGS working group focuses on improving methods for ataxia NGS analysis and data sharing to increase the number of genetically diagnosed ataxia patients. Collaboration between AGI and other research platforms has led to the diagnosis of over 500 ataxia patients and the discovery of more than 30 novel ataxia genes. The AGI NGS working group presents consensus recommendations for NGS data sharing initiatives, emphasizing harmonized variant analysis and standardized clinical and metadata collection.
Correction
Neurosciences
Jigyasha Timsina, Duber Gomez-Fonseca, Lihua Wang, Anh Do, Dan Western, Ignacio Alvarez, Miquel Aguilar, Pau Pastor, Rachel L. Henson, Elizabeth Herries, Chengjie Xiong, Suzanne E. Schindler, Anne M. Fagan, Randall J. Bateman, Martin Farlow, John C. Morris, Richard J. Perrin, Krista Moulder, Jason Hassenstab, Jonathan Voeglein, Jasmeer Chhatw, Hiroshi Mori, Yun Ju Sung, Carlos Cruchaga
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Cell Biology
Alberto Corvo, Leslie Matalonga, Dylan Spalding, Alexander Senf, Steven Laurie, Daniel Pico-Amador, Marcos Fernandez-Callejo, Ida Paramonov, Anna Foix Romero, Emilio Garcia-Rios, Jorge Izquierdo Ciges, Anand Mohan, Coline Thomas, Andres Felipe Silva Valencia, Csaba Halmagyi, Mallory Ann Freeberg, Ana Topf, Rita Horvath, Gary Saunders, Ivo Gut, Thomas Keane, Davide Piscia, Sergi Beltran
Summary: The Solve-RD project aims to solve undiagnosed rare diseases through collaborative research on shared genome-phenome datasets. The RD-Connect Genome-Phenome Analysis Platform and the European Genome-Phenome Archive are key components of the Solve-RD infrastructure. The project allows clinical researchers to identify candidate genetic variants and visualize corresponding alignments remotely.