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Skånes universitetssjukhus Lund (Skåne University Hospital, Lund): Lund, SE

Consultant (Neurology)
Employment
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology

Works (50 of 95)

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TOR1AIP2 as a candidate gene for dystonia-hemichorea/hemiballism

Parkinsonism & Related Disorders
2025-05 | Journal article
Contributors: Efthymia Kafantari; Victoria J. Hernandez; Ján Necpál; Marina Leonidou; Regina Baureder; Carola Hedberg-Oldfors; Robert Jech; Michael Zech; Thomas U. Schwartz; Andreas Puschmann
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Crossref

Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia

Journal of Neurology
2024 | Journal article
EID:

2-s2.0-85173119632

Part of ISSN: 14321459 03405354
Contributors: Gorcenco, S.; Kafantari, E.; Wallenius, J.; Karremo, C.; Alinder, E.; Dobloug, S.; Landqvist Waldö, M.; Englund, E.; Ehrencrona, H.; Wictorin, K. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Exonic trinucleotide repeat expansions in ZFHX3 cause spinocerebellar ataxia type 4: A poly-glycine disease

American Journal of Human Genetics
2024 | Journal article
EID:

2-s2.0-85180324233

Part of ISSN: 15376605 00029297
Contributors: Wallenius, J.; Kafantari, E.; Jhaveri, E.; Gorcenco, S.; Ameur, A.; Karremo, C.; Dobloug, S.; Karrman, K.; de Koning, T.; Ilinca, A. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Diagnosing Monogenic Stroke at Younger Age

Stroke
2024-12 | Journal article
Contributors: Andreea Ilinca; Efthymia Kafantari; Joel Wallenius; Ulf Kristoffersson; Elisabet Englund; Andreas Puschmann; Arne G. Lindgren
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Structural and Functional Characterization of the Most Frequent Pathogenic PRKN Substitution p.R275W

Cells
2024-09-13 | Journal article
Contributors: Bernardo A. Bustillos; Liam T. Cocker; Mathew A. Coban; Caleb A. Weber; Jenny M. Bredenberg; Paige K. Boneski; Joanna Siuda; Jaroslaw Slawek; Andreas Puschmann; Derek P. Narendra et al.
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Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants

Molecular Genetics & Genomic Medicine
2024-08 | Journal article
Contributors: Sigurd Dobloug; Ulrika Kjellström; Glenn Anderson; Emily Gardner; Sara E. Mole; Jayesh Sheth; Andreas Puschmann
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Crossref

IsGBA1T369M not a risk factor for Parkinson’s disease in the Swedish population?

2024-03-16 | Preprint
Contributors: Kajsa Atterling Brolin; David Bäckström; Joel Wallenius; Ziv Gan-Or; Andreas Puschmann; Oskar Hansson; Maria Swanberg
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Crossref

The clinical spectrum of ataxia telangiectasia in a cohort in Sweden

Heliyon
2024-02 | Journal article
Contributors: Hannes Lindahl; Eva Svensson; Annika Danielsson; Andreas Puschmann; Per Svenningson; Bianca Tesi; Martin Paucar
Source: check_circle
Crossref

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56

Clinical Parkinsonism & Related Disorders
2023 | Journal article
Contributors: Wejdan Almasoudi; Christer Nilsson; Ulrika Kjellström; Kevin Sandeman; Andreas Puschmann
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Crossref
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Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

Movement Disorders
2023 | Journal article
EID:

2-s2.0-85147202939

Part of ISSN: 15318257 08853185
Contributors: Vollstedt, E.-J.; Schaake, S.; Lohmann, K.; Padmanabhan, S.; Brice, A.; Lesage, S.; Tesson, C.; Vidailhet, M.; Wurster, I.; Hentati, F. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson’s Disease Project

PLoS ONE
2023 | Journal article
EID:

2-s2.0-85172999938

Part of ISSN: 19326203
Contributors: Vollstedt, E.-J.; Madoev, H.; Aasly, A.; Ahmad-Annuar, A.; Al-Mubarak, B.; Alcalay, R.N.; Alvarez, V.; Amorin, I.; Annesi, G.; Arkadir, D. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers

Movement Disorders
2023 | Journal article
EID:

2-s2.0-85148340230

Part of ISSN: 15318257 08853185
Contributors: Sugier, P.-E.; Lucotte, E.A.; Domenighetti, C.; Law, M.H.; Iles, M.M.; Brown, K.; Amos, C.; McKay, J.D.; Hung, R.J.; Karimi, M. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Polygenic risk scores validated in patient-derived cells stratify for mitochondrial subtypes of Parkinson’s disease

medRxiv
2023 | Other
EID:

2-s2.0-85162689360

Contributors: Arena, G.; Landoulsi, Z.; Grossmann, D.; Vitali, A.; Delcambre, S.; Baron, A.; Antony, P.; Boussaad, I.; Bobbili, D.R.; Kumar Sreelatha, A.A. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Substitution of PINK1 Gly411 modulates substrate receptivity and turnover

Autophagy
2023 | Journal article
EID:

2-s2.0-85144067001

Part of ISSN: 15548635 15548627
Contributors: Fiesel, F.C.; Fričová, D.; Hayes, C.S.; Coban, M.A.; Hudec, R.; Bredenberg, J.M.; Broadway, B.J.; Markham, B.N.; Yan, T.; Boneski, P.K. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

The Clinical Spectrum of Ataxia Telangiectasia in a Cohort in Sweden

SSRN
2023 | Other
EID:

2-s2.0-85180396619

Part of ISSN: 15565068
Contributors: Lindahl, H.; Svensson, E.; Danielsson, A.; Puschmann, A.; Svenningson, P.; Tesi, B.; Paucar, M.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

The α-synuclein PET tracer [18F] ACI-12589 distinguishes multiple system atrophy from other neurodegenerative diseases

Nature Communications
2023 | Journal article
EID:

2-s2.0-85174956785

Part of ISSN: 20411723
Contributors: Smith, R.; Capotosti, F.; Schain, M.; Ohlsson, T.; Vokali, E.; Molette, J.; Touilloux, T.; Hliva, V.; Dimitrakopoulos, I.K.; Puschmann, A. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Small vessel disease in primary familial brain calcification with novel truncating PDGFB variants.

Neurologia i neurochirurgia polska
2023-12-29 | Journal article
Contributors: Yektay Farahmand M; Wasseilus J; Englund E; Braverman I; Puschmann A; ANDREEA ILINCA
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology

Patients’ Perspective in Hereditary Ataxia

Cerebellum
2022 | Journal article
EID:

2-s2.0-85144137460

Part of ISSN: 14734230 14734222
Contributors: Gorcenco, S.; Karremo, C.; Puschmann, A.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Updated Stroke Gene Panels: Rapid evolution of knowledge on monogenic causes of stroke

Research Square
2022 | Other
EID:

2-s2.0-85167375825

Contributors: Ilinca, A.; Puschmann, A.; Putaala, J.; de Leeuw, F.E.; Cole, J.; Kittner, S.; Kristoffersson, U.; Lindgren, A.G.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier
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The Interaction between HLA-DRB1 and Smoking in Parkinson's Disease Revisited.

Movement disorders : official journal of the Movement Disorder Society
2022-07-10 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Polygenic Resilience Modulates the Penetrance of Parkinson Disease Genetic Risk Factors.

Annals of neurology
2022-06-24 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease: Evidence From the COURAGE-PD Consortium.

Neurology
2022-05-26 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Tau and neurofilament light-chain as fluid biomarkers in spinocerebellar ataxia type 3.

European journal of neurology
2022-05-26 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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A relatively common hypomorphic variant in WARS2 causes monogenic disease.

Parkinsonism & related disorders
2022-01-19 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study.

Movement disorders : official journal of the Movement Disorder Society
2022-01-08 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Insights on Genetic and Environmental Factors in Parkinson's Disease from a Regional Swedish Case-Control Cohort.

Journal of Parkinson's disease
2022-01-01 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease.

Journal of Parkinson's disease
2022-01-01 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Serum Neurofilament Light Chain as a Marker of Progression in Parkinson's Disease: Long-Term Observation and Implications of Clinical Subtypes.

Journal of Parkinson's disease
2022-01-01 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Insights on genetic and environmental factors in Parkinson’s disease from a regional Swedish case-control cohort

medRxiv
2021 | Other
EID:

2-s2.0-85118903815

Contributors: Brolin, K.; Bandres-Ciga, S.; Blauwendraat, C.; Widner, H.; Odin, P.; Hansson, O.; Puschmann, A.; Swanberg, M.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Clinical classification systems and long-term outcome in mid- and late-stage Parkinson's disease.

NPJ Parkinson's disease
2021-08-02 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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Throat-Clearing Vocalizations in Primary Brain Calcification Syndromes.

Movement disorders clinical practice
2021-03-13 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
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MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor.

Neurology. Genetics
2021-01-21 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
grade
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Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?

Parkinsonism and Related Disorders
2020 | Journal article
EID:

2-s2.0-85092623710

Part of ISBN:

18735126 13538020

Contributors: Kafantari, E.; Andréasson, S.; Säll, T.; Puschmann, A.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Myoclonus-dystonia (DYT11, DYT-SGCE) - a channelopathy?

Neurologia i neurochirurgia polska
2020 | Journal article
EID:

2-s2.0-85080840821

Part of ISBN:

00283843

Contributors: Wictorin, K.; Puschmann, A.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke

Stroke
2020 | Journal article
EID:

2-s2.0-85082342446

Part of ISSN: 15244628 00392499
Contributors: Ilinca, A.; Martinez-Majander, N.; Samuelsson, S.; Piccinelli, P.; Truvé, K.; Cole, J.; Kittner, S.; Soller, M.; Kristoffersson, U.; Tatlisumak, T. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.

Science translational medicine
2020-10-01 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
grade
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Abstracts of the IAPRD XXV World Congress on Parkinson's Disease and Related Disorders, 2020. Congress theme: Diagnosing and treating movement disorders in the era of personalized medicine.

Parkinsonism & related disorders
2020-07-27 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
grade
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New generation genetic testing entering the clinic.

Parkinsonism & related disorders
2020-03-02 | Journal article
Contributors: Andreas Puschmann, MD, PhD, Professor of Neurology
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology
grade
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Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

Parkinsonism and Related Disorders
2019 | Journal article
EID:

2-s2.0-85065409488

Part of ISBN:

18735126 13538020

Contributors: Gorcenco, S.; Vaz, F.M.; Tracewska-Siemiatkowska, A.; Tranebjærg, L.; Cremers, F.P.M.; Ygland, E.; Kicsi, J.; Rendtorff, N.D.; Möller, C.; Kjellström, U. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Using global team science to identify genetic parkinson's disease worldwide

Annals of Neurology
2019 | Journal article
EID:

2-s2.0-85068207273

Part of ISBN:

15318249 03645134

Contributors: Vollstedt, E.-J.; Kasten, M.; Klein, C.; Aasly, J.; Adler, C.; Ahmad-Annuar, A.; Albanese, A.; Alcalay, R.N.; Al-Mubarak, B.; Alvarez, V. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Nationwide prevalence of primary dystonia, progressive ataxia and hereditary spastic paraplegia

Parkinsonism & Related Disorders
2019-12 | Journal article
Contributors: Clara Hellberg; Erik Alinder; Daniel Jaraj; Andreas Puschmann
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Low prevalence of known pathogenic mutations in dominant PD genes: A Swedish multicenter study

Parkinsonism & Related Disorders
2019-09 | Journal article
Contributors: Andreas Puschmann; Itzia Jiménez-Ferrer; Elin Lundblad-Andersson; Emma Mårtensson; Oskar Hansson; Per Odin; Håkan Widner; Kajsa Brolin; Ropafadzo Mzezewa; Jonas Kristensen et al.
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LRP10 genetic variants in familial Parkinson's disease and dementia with Lewy bodies: a genome-wide linkage and sequencing study

The Lancet Neurology
2018 | Journal article
EID:

2-s2.0-85048008823

Part of ISBN:

14744465 14744422

Contributors: Quadri, M.; Mandemakers, W.; Grochowska, M.M.; Masius, R.; Geut, H.; Fabrizio, E.; Breedveld, G.J.; Kuipers, D.; Minneboo, M.; Vergouw, L.J.M. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Slowly progressive dementia caused by MAPT R406W mutations: Longitudinal report on a new kindred and systematic review

Alzheimer's Research and Therapy
2018 | Journal article
EID:

2-s2.0-85041469507

Part of ISBN:

17589193

Contributors: Ygland, E.; Van Westen, D.; Englund, E.; Rademakers, R.; Wszolek, Z.K.; Nilsson, K.; Nilsson, C.; Landqvist Waldö, M.; Alafuzoff, I.; Hansson, O. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Will FTLD-tau work for all when FTDP-17 retires?

Brain : a journal of neurology
2018 | Journal article
EID:

2-s2.0-85061126692

Part of ISBN:

14602156

Contributors: Ygland, E.; Landqvist Waldö, M.; Englund, E.; Puschmann, A.; Nilsson, C.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies

Leukemia
2018-05-25 | Journal article
Contributors: Josef Davidsson; Andreas Puschmann; Ulf Tedgård; David Bryder; Lars Nilsson; Jörg Cammenga
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Crossref
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Ataxia-pancytopenia syndrome with SAMD9L mutations

Neurology: Genetics
2017 | Journal article
EID:

2-s2.0-85046842114

Part of ISBN:

23767839

Contributors: Gorcenco, S.; Komulainen-Ebrahim, J.; Nordborg, K.; Suo-Palosaari, M.; Andréasson, S.; Krüger, J.; Nilsson, C.; Kjellström, U.; Rahikkala, E.; Turkiewicz, D. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Blood
2017 | Journal article
EID:

2-s2.0-85019216846

Part of ISBN:

15280020 00064971

Contributors: Tesi, B.; Davidsson, J.; Voss, M.; Rahikkala, E.; Holmes, T.D.; Chiang, S.C.C.; Komulainen-Ebrahim, J.; Gorcenco, S.; Nilsson, A.R.; Ripperger, T. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism

Brain
2017 | Journal article
EID:

2-s2.0-85018383742

Part of ISBN:

14602156 00068950

Contributors: Puschmann, A.; Fiesel, F.C.; Caulfield, T.R.; Hudec, R.; Ando, M.; Truban, D.; Hou, X.; Ogaki, K.; Heckman, M.G.; James, E.D. et al.
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Scopus - Elsevier

New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Current neurology and neuroscience reports
2017-09 | Journal article
Source: Self-asserted source
Andreas Puschmann, MD, PhD, Professor of Neurology via Europe PubMed Central
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Items per page:
Page 1 of 2

Peer review (13 reviews for 7 publications/grants)

Review activity for Clinical parkinsonism & related disorders. (1)
Review activity for European journal of human genetics (1)
Review activity for Journal of neural transmission. (1)
Review activity for Journal of neurology. (4)
Review activity for NPJ Parkinson's disease. (1)
Review activity for Parkinsonism & related disorders. (4)
Review activity for The cerebellum. (1)