Guido J. Breedveld - Publications, H-index & Citations

Guido J. Breedveld

erasmus university

50H指数

122论文数

1.2W被引数

收录论文 67

发表时间

Variants in the proteasome regulator PSMF1 cause a phenotypic spectrum from parkinsonism to perinatal lethality 蛋白酶体调节因子PSMF1的变异导致从帕金森病到围产期死亡表型谱

Nature Communications

IF15.7

2026-04-15

OAAI

Francesca Magrinelli; Christelle Tesson; Plamena R. Angelova; Jose A. Rodriguez; Annarita Scardamaglia; Benjamin O’Callaghan; Simon A. Lowe; Ainara Salazar-Villacorta; Brian Hon-Yin Chung; Matthew Jaconelli; Barbara Vona; Noemi Esteras; Angela Mammana; Junko Shimazu; Anna Ka-Yee Kwong; Thomas Courtin; Shahryar Alavi; Reza Maroofian; Raja Nirujogi; Mariasavina Severino; Edoardo Monfrini; Clarissa Rocca; Patrick A. Lewis; Stephanie Efthymiou; Rebecca Buchert; Linda Sofan; Pawel Lis; Chloé Pinon; Guido J. Breedveld; Martin Man-Chun Chui; David Murphy; Vanessa Pitz; Mary B. Makarious; Simone Baiardi; Marina Volin; Marlene Cassar; Bassem A. Hassan; Sana Iftikhar; Peter Bauer; Michele Tinazzi; Marina Svetel; Bedia Samanci; Haşmet A. Hanağası; Basar Bilgiç; Francesco Cavallieri; Mario Santangelo; José A. Obeso; Monica M. Kurtis; Guillaume Cogan; Güneş Kiziltan; Tuğçe Gül-Demirkale; Hülya Tireli; Gülbün A. Yüksel; Gül Yalçın-Cakmakli; Bülent Elibol; Nina Barišić; Earny Wei-Sen Ng; Sze-Shing Fan; Tova Hershkovitz; Karin Weiss; Javeria Raza Alvi; Tipu Sultan; Issam Azmi Alkhawaja; Tawfiq Froukh; Hadeel Abdollah E. Alrukban; Muhammad Nadeem Anjum; Anjum Saeed; Huma Arshad Cheema; Christine Fauth; Ulrich A. Schatz; Thomas Zöggeler; Michael Zech; Karen Stals; Vinod Varghese; Sonia Gandhi; Cornelis Blauwendraat; John A. Hardy; Alessio Di Fonzo; Vincenzo Bonifati; Tobias B. Haack; Aida M. Bertoli-Avella; Suzanne Lesage; Ayşe Nazlı Başak; Robert Steinfeld; Piero Parchi; James E. C. Jepson; Dario R. Alessi; Alexis Brice; Hermann Steller; Andrey Y. Abramov; Kailash P. Bhatia; Henry Houlden

Clinical, neuroimaging and genetic findings in Brazilian patients with neurodegeneration with brain iron accumulation

PARKINSONISM & RELATED DISORDERS

IF3.4

2024-06-01

PREAI

Salomao, Rubens Paulo Araujo; Filho, Flavio Moura Rezende; Borges, Vanderci; Kurian, Manju A.; Ferraz, Henrique Ballalai; Breedveld, Guido J.; Bonifati, Vincenzo; Barsottini, Orlando G.; Pedroso, Jose Luiz

LRP10 and α-synuclein transmission in Lewy body diseases LRP10和 α-突触核蛋白在Lewy体疾病中的传递

CELLULAR AND MOLECULAR LIFE SCIENCES

IF6.2

2024-02-05

OAAI

Carreras Mascaro, Ana; Grochowska, Martyna M.; Boumeester, Valerie; Dits, Natasja F. J.; Bilgic, Ece Naz; Breedveld, Guido J.; Vergouw, Leonie; de Jong, Frank Jan; van Royen, Martin E.; Bonifati, Vincenzo; Mandemakers, Wim

deCLUTTER2+-a pipeline to analyze calcium traces in a stem cell model for ventral midbrain patterned astrocytes

DISEASE MODELS & MECHANISMS

IF3.3

2023-06-23

OAAI

Grochowska, Martyna M.; Ferraro, Federico; Mascaro, Ana Carreras; Natale, Domenico; Winkelaar, Amber; Boumeester, Valerie; Breedveld, Guido J.; Bonifati, Vincenzo; Mandemakers, Wim

Tagged Mutagenesis by Efficient Minos-Based Germ Line Transposition

MOLECULAR AND CELLULAR BIOLOGY

IF2.7

2023-03-20

OAAI

de Wit, Ton; Dekker, Sylvia; Maas, Alex; Breedveld, Guido; Knoch, Tobias A.; Langeveld, An; Szumska, Dorota; Craig, Roger; Bhattacharya, Shoumo; Grosveld, Frank; Drabek, Dubravka

Segmental dystonia as the prominent phenotype resulting from a MICU1 splice variant in a new Indian case

PARKINSONISM & RELATED DISORDERS

IF3.4

2022-10-01

PREAI

Fevga, Christina; Ferraro, Federico; Breedveld, Guido J.; Sankhla, Charulata Savant; Bonifati, Vincenzo

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability 早发性帕金森病伴智力障碍患者的PTPA变异和PP2A活性受损

BRAIN

IF11.7

2022-09-08

OAAI

Fevga, Christina; Tesson, Christelle; Mascaro, Ana Carreras; Courtin, Thomas; van Coller, Riaan; Sakka, Salma; Ferraro, Federico; Farhat, Nouha; Bardien, Soraya; Damak, Mariem; Carr, Jonathan; Ferrien, Melanie; Boumeester, Valerie; Hundscheid, Jasmijn; Grillenzoni, Nicola; Kessissoglou, Irini A.; Kuipers, Demy J. S.; Quadri, Marialuisa; Corvol, Jean-Christophe; Mhiri, Chokri; Hassan, Bassem A.; Breedveld, Guido J.; Lesage, Suzanne; Mandemakers, Wim; Brice, Alexis; Bonifati, Vincenzo

Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family

MOVEMENT DISORDERS

IF7.6

2022-07-15

OAAI

Agarwal, Pankaj A.; Kuipers, Demy J. S.; Fevga, Christina; Agrawal, Shruti; Ravat, Sangeeta H.; Breedveld, Guido J.; Sethi, Kapil; Bonifati, Vincenzo

A multiplex pedigree with pathologically confirmed multiple system atrophy and Parkinson's disease with dementia 病理证实的多系统萎缩和帕金森病伴痴呆的多重系谱

BRAIN COMMUNICATIONS

IF4.5

2022-07-04

OAAI

Fanciulli, Alessandra; Leys, Fabian; Lehner, Fabienne; Sidoroff, Victoria; Ruf, Viktoria C.; Raccagni, Cecilia; Mahlknecht, Philipp; Kuipers, Demy J. S.; van IJcken, Wilfred F. J.; Stockner, Heike; Musacchio, Thomas; Volkmann, Jens; Monoranu, Camelia Maria; Stankovic, Iva; Breedveld, Guido; Ferraro, Federico; Fevga, Christina; Windl, Otto; Herms, Jochen; Kiechl, Stefan; Poewe, Werner; Seppi, Klaus; Stefanova, Nadia; Scholz, Sonja W.; Bonifati, Vincenzo; Wenning, Gregor K.

AOPEP Homozygous Loss-of-Function Variant in an Indian Patient With Early-Onset Generalized Dystonia

MOVEMENT DISORDERS

IF7.6

2022-01-24

OAAI

Fevga, Christina; Ferraro, Federico; Breedveld, Guido J.; Savant Sankhla, Charulata; Bonifati, Vincenzo

A new alpha-synuclein missense variant (Thr72Met) in two Turkish families with Parkinson's disease 在两个患有帕金森氏病的土耳其家庭中，一种新的 α-突触核蛋白错义变体 (Thr72Met)

PARKINSONISM & RELATED DISORDERS

IF3.4

2021-08-01

OAAI

Fevga, Christina; Park, Yangshin; Lohmann, Ebba; Kievit, Anneke J.; Breedveld, Guido J.; Ferraro, Federico; de Boer, Leon; van Minkelen, Rick; Hanagasi, Hasmet; Boon, Agnita; Wang, Wei; Petsko, Gregory A.; Hoang, Quyen Q.; Emre, Murat; Bonifati, Vincenzo

LRP10 interacts with SORL1 in the intracellular vesicle trafficking pathway in non-neuronal brain cells and localises to Lewy bodies in Parkinson's disease and dementia with Lewy bodies

ACTA NEUROPATHOLOGICA

IF9.3

2021-04-28

OAAI

Grochowska, Martyna M.; Carreras Mascaro, Ana; Boumeester, Valerie; Natale, Domenico; Breedveld, Guido J.; Geut, Hanneke; van Cappellen, Wiggert A.; Boon, Agnita J. W.; Kievit, Anneke J. A.; Sammler, Esther; Parchi, Piero; Cortelli, Pietro; Alessi, Dario R.; van de Berg, Wilma D. J.; Bonifati, Vincenzo; Mandemakers, Wim

EIF2AK2 Missense Variants Associated with Early Onset Generalized Dystonia

ANNALS OF NEUROLOGY

IF7.7

2020-12-15

OAAI

Kuipers, Demy J. S.; Mandemakers, Wim; Lu, Chin-Song; Olgiati, Simone; Breedveld, Guido J.; Fevga, Christina; Tadic, Vera; Carecchio, Miryam; Osterman, Bradley; Sagi-Dain, Lena; Wu-Chou, Yah-Huei; Chen, Chiung C.; Chang, Hsiu-Chen; Wu, Shey-Lin; Yeh, Tu-Hsueh; Weng, Yi-Hsin; Elia, Antonio E.; Panteghini, Celeste; Marotta, Nicolas; Pauly, Martje G.; Kuehn, Andrea A.; Volkmann, Jens; Lace, Baiba; Meijer, Inge A.; Kandaswamy, Krishna; Quadri, Marialuisa; Garavaglia, Barbara; Lohmann, Katja; Bauer, Peter; Mencacci, Niccolo E.; Lubbe, Steven J.; Klein, Christine; Bertoli-Avella, Aida M.; Bonifati, Vincenzo

LRP10 variants in progressive supranuclear palsy

NEUROBIOLOGY OF AGING

IF3.5

2020-10-01

OAAI

Vergouw, Leonie J. M.; Melhem, Shamiram; Kaat, Laura Donker; Chiu, Wang Z.; Kuipers, Demy J. S.; Breedveld, Guido; Boon, Agnita J. W.; Wang, Li-San; Naj, Adam C.; Mlynarksi, Elizabeth; Cantwell, Laura; Quadri, Marialuisa; Ross, Owen A.; Dickson, Dennis W.; Schellenberg, Gerard D.; van Swieten, John C.; Bonifati, Vincenzo; de Jong, Frank Jan

Clinical and Pathological Phenotypes of LRP10 Variant Carriers with Dementia

JOURNAL OF ALZHEIMERS DISEASE

IF3.1

2020-06-22

OAAI

Vergouw, Leonie J. M.; Geut, Hanneke; Breedveld, Guido; Kuipers, Demy J. S.; Quadri, Marialuisa; Bank, Netherlands Brain; Rozemuller, Annemieke J. M.; van Swieten, John C.; de Jong, Frank Jan; van de Berg, Wilma D. J.; Bonifati, Vincenzo

Primary familial brain calcification caused by MYORG mutations in an Italian family

PARKINSONISM & RELATED DISORDERS

IF3.4

2019-10-01

PREAI

Taglia, Ilaria; Kuipers, Demy J. S.; Breedveld, Guido J.; Mignarri, Andrea; Dotti, Maria Teresa; Federico, Antonio; Bonifati, Vincenzo

Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study

PARKINSONISM & RELATED DISORDERS

IF3.4

2019-09-01

OAAI

Puschmann, Andreas; Jimenez-Ferrer, Itzia; Lundblad-Andersson, Elin; Martensson, Emma; Hansson, Oskar; Odin, Per; Widner, Hakan; Brolin, Kajsa; Mzezewa, Ropafadzo; Kristensen, Jonas; Soller, Maria; Rodstrom, Emil Ygland; Ross, Owen A.; Toft, Mathias; Breedveld, Guido J.; Bonifati, Vincenzo; Brodin, Lovisa; Zettergren, Anna; Sydow, Olof; Linder, Jan; Wirdefeldt, Karin; Svenningsson, Per; Nissbrandt, Hans; Belin, Andrea Carmine; Forsgren, Lars; Swanberg, Maria

Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family

PARKINSONISM & RELATED DISORDERS

IF3.4

2019-09-01

PREAI

Kuipers, Demy J. S.; Tufekcioglu, Zeynep; Bilgic, Basar; Olgiati, Simone; Dremmen, Marjolein H. G.; van IJcken, Wilfred F. J.; Breedveld, Guido J.; Mancini, Grazia M. S.; Hanagasi, Hasmet A.; Emre, Murat; Bonifati, Vincenzo

LRP10 variants in Parkinson's disease and dementia with Lewy bodies in the South-West of the Netherlands

PARKINSONISM & RELATED DISORDERS

IF3.4

2019-08-01

PREAI

Vergouw, Leonie J. M.; Ruitenberg, Annemieke; Wong, Tsz Hang; Melhem, Shamiram; Breedveld, Guido J.; Criscuolo, Chiara; De Michele, Giuseppe; de Jong, Frank Jan; Bonifati, Vincenzo; van Swieten, John C.; Quadri, Marialuisa

PTRHD1 Loss-of-function mutation in an african family with juvenile-onset Parkinsonism and intellectual disability

MOVEMENT DISORDERS

IF7.6

2018-11-06

PREAI

Kuipers, Demy J. S.; Carr, Jonathan; Bardien, Soraya; Thomas, Pearl; Sebate, Boiketlo; Breedveld, Guido J.; van Minkelen, Rick; Brouwer, Rutger W. W.; van Ijcken, Wilfred F. J.; van Slegtenhorst, Marjon A.; Bonifati, Vincenzo; Quadri, Marialuisa

研究方向