A. Puschmann

发表

Diagnosis and treatment of common forms of tremor.

Z. Wszolek, A. Puschmann, 2011, Seminars in neurology.

New generation genetic testing entering the clinic.

A. Lindgren, A. Puschmann, A. Ilinca, 2020, Parkinsonism & related disorders.

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

M. Farrer, P. Silburn, M. Heckman, 2016, Brain : a journal of neurology.

New Genes Causing Hereditary Parkinson’s Disease or Parkinsonism

A. Puschmann, 2017, Current Neurology and Neuroscience Reports.

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

N. Staff, L. Petrucelli, H. Paulson, 2020, Science Translational Medicine.

Clinical correlations with Lewy body pathology in LRRK2-related Parkinson disease.

J. Trojanowski, E. Tolosa, K. Marder, 2015, JAMA neurology.

Genome-wide Association and Meta-analysis of Age-at-Onset in Parkinson Disease: Evidence From COURAGE-PD Consortium.

D. Hernandez, A. Singleton, P. May, 2022, Neurology.

Autosomal dominant Parkinson's disease caused by SNCA duplications.

D. Dickson, Z. Wszolek, O. Ross, 2016, Parkinsonism & related disorders.

A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.

M. Farrer, J. Kachergus, S. Lincoln, 2009, Parkinsonism & related disorders.

Strong association between glucocerebrosidase mutations and Parkinson's disease in Sweden

P. Svenningsson, L. Forsgren, K. Wirdefeldt, 2016, Neurobiology of Aging.

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

A. Destée, J. Ioannidis, M. Farrer, 2011, Annals of neurology.

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

C. Nilsson, E. Englund, M. Landqvist Waldö, 2018, Brain : a journal of neurology.

Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research

Martin N. Rossor, Margaret Sutherland, Colin J. Mahoney, 2012, PloS one.

Heredity in Parkinson's disease. From rare mutations to common genetic risk factors.

A. Puschmann, 2011 .

Alpha-synuclein multiplications with parkinsonism, dementia or progressive myoclonus?

M. Farrer, C. Nilsson, Z. Wszolek, 2009, Parkinsonism & related disorders.

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

I. Alafuzoff, O. Hansson, D. van Westen, 2018, Alzheimer's Research & Therapy.

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

A. Puschmann, Emil Ygland Rödström, 2021, NPJ Parkinson's disease.

A Swedish family with de novo α -synuclein A53T mutation: Evidence for early cortical dysfunction

M. Farrer, J. Kachergus, S. Lincoln, 2009 .

Reply: Heterozygous PINK1 p.G411S in rapid eye movement sleep behaviour disorder.

M. Farrer, P. Silburn, M. Heckman, 2017, Brain : a journal of neurology.

Clinical variability of neuroacanthocytosis syndromes—a series of six patients with long follow-up

Z. Wszolek, J. Roth, J. Klempír, 2016, Clinical Neurology and Neurosurgery.

Involvement of intracellular Ca2+ stores in inhibitory effects of NO donor SIN-1 and cGMP.

M. Storr, H. Allescher, A. Puschmann, 1998, American Journal of Physiology - Gastrointestinal and Liver Physiology.

Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease

P. Johannsen, B. B. Andersen, H. Braendgaard, 2013, Clinical genetics.

Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia

P. Hedera, M. LeDoux, D. Momčilović, 2012, BMC Neurology.

MYELOID NEOPLASIA Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunode ﬁ ciency, MDS, and neurological symptoms

T. Fioretos, H. Qian, C. Pronk, 2017 .

TNF-α induces apoptosis of parietal cells

C. Prinz, P. Hutzler, A. Puschmann, 2003 .

Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease

D. Hernandez, C. Blauwendraat, M. Farrer, 2022, Neurology.

1.3.1 SYNUCLEINOPATHIES FROM BENCH TO BEDSIDE (PD, MSA, ADHD, RLS)

W. Weiner, R. Bhidayasiri, A. Puschmann, 2012 .

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

L. Nilsson, J. Davidsson, U. Tedgård, 2018, Leukemia.

The Interaction between HLA‐DRB1 and Smoking in Parkinson's Disease Revisited

D. Hernandez, A. Singleton, P. May, 2022, Movement disorders : official journal of the Movement Disorder Society.

Throat‐Clearing Vocalizations in Primary Brain Calcification Syndromes

K. Bhatia, F. Magrinelli, E. Mulroy, 2021, Movement disorders clinical practice.

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

F. de Leeuw, A. Lindgren, J. Putaala, 2022, European Journal of Human Genetics.

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

T. Fioretos, L. Nilsson, H. Qian, 2017, Blood.

Ataxia-pancytopenia syndrome with SAMD9L mutations

C. Nilsson, L. Nilsson, J. Davidsson, 2017, Neurology: Genetics.

Tau and neurofilament light‐chain as fluid biomarkers in spinocerebellar ataxia type 3

L. Petrucelli, L. Schöls, T. Klockgether, 2022, European journal of neurology.

Substitution of PINK1 Gly411 modulates substrate receptivity and turnover

Z. Wszolek, A. Ordureau, O. Ross, 2022, Autophagy.

Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

Z. Wszolek, M. LeDoux, Yu Zhao, 2012, Parkinsonism & related disorders.

MAP3K6 Mutations in a Neurovascular Disease Causing Stroke, Cognitive Impairment, and Tremor

A. Lindgren, E. Englund, J. Putaala, 2021, Neurology: Genetics.

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Z. Wszolek, M. LeDoux, Yu Zhao, 2013, Human molecular genetics.

Genotype-Phenotype Correlations in Parkinson Disease

Z. Wszolek, A. Puschmann, 2014 .

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

A. Puschmann, 2013, Parkinsonism & related disorders.

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

D. Hernandez, A. Singleton, M. Iles, 2023, Movement disorders : official journal of the Movement Disorder Society.

VPS35 mutations in Parkinson disease.

M. Farrer, J. Kachergus, S. Lincoln, 2011, American journal of human genetics.

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

Sofie Samuelsson, Arne Lindgren, Ulf Kristoffersson, 2020, Stroke.

Characterisation of the functional role of the inducible transcription factor nuclear factor kappa-B (NF-kB) in isolated rat parietal cells

A. Puschmann, 2003 .

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

J. Ioannidis, M. Farrer, D. Maraganore, 2011, The Lancet Neurology.

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients

R. Petersen, B. Boeve, T. Ferman, 2015, European journal of neurology.

Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?

C. Möller, F. Cremers, A. Puschmann, 2019, Parkinsonism & related disorders.

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

Elisabeth L. Moussaud-Lamodière, R. Petersen, B. Boeve, 2015, Neurology.

18F-AV-1451 tau PET imaging correlates strongly with tau neuropathology in MAPT mutation carriers

O. Hansson, E. Englund, J. V. van Swieten, 2016, Brain : a journal of neurology.

Human leukocyte antigen variation and Parkinson's disease.

M. Barcikowska, R. Uitti, M. Heckman, 2011, Parkinsonism & related disorders.

PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins

V. Sossi, Z. Wszolek, M. Higuchi, 2017, Movement disorders : official journal of the Movement Disorder Society.

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

A. Puschmann, K. Wictorin, 2020, Neurologia i neurochirurgia polska.

Dairy Intake and Parkinson's Disease: A Mendelian Randomization Study

D. Hernandez, P. May, M. Farrer, 2022, Movement disorders : official journal of the Movement Disorder Society.

Mendelian Randomisation Study of Smoking, Alcohol, and Coffee Drinking in Relation to Parkinson's Disease.

D. Hernandez, A. Singleton, P. May, 2021, Journal of Parkinson's disease.

Insights on Genetic and Environmental Factors in Parkinson’s Disease from a Regional Swedish Case-Control Cohort

C. Blauwendraat, O. Hansson, S. Bandres-Ciga, 2021, medRxiv.

Global investigation and meta-analysis of the C9orf72 (G4C2)n repeat in Parkinson disease

D. Maraganore, A. Deutschländer, A. Lang, 2014, Neurology.

An African-American family with dystonia.

Z. Wszolek, M. LeDoux, A. Puschmann, 2011, Parkinsonism & related disorders.

An AfricaneAmerican family with dystonia q

Z. Wszolek, M. LeDoux, A. Puschmann, 2011 .

LRRK2 variation and Parkinson's disease in African Americans

M. Farrer, J. Kachergus, Z. Wszolek, 2010, Movement disorders : official journal of the Movement Disorder Society.

First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation.

M. Farrer, J. Kachergus, S. Lincoln, 2012, Parkinsonism & related disorders.

Clinically meaningful parameters of progression and long-term outcome of Parkinson disease: An international consensus statement.

D. Maraganore, R. Krüger, J. Siuda, 2015, Parkinsonism & related disorders.

A relatively common hypomorphic variant in WARS2 causes monogenic disease.

A. Puschmann, A. Ilinca, Efthymia Kafantari, 2022, Parkinsonism & related disorders.

Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.

C. Gellera, M. Duno, F. Taroni, 2014, Parkinsonism & related disorders.

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity?

P. Bauer, L. Schöls, D. van Westen, 2014, Parkinsonism & Related Disorders.

Role for the microtubule-associated protein tau variant p.A152T in risk of α-synucleinopathies

R. Petersen, D. Maraganore, C. Adler, 2015, Neurology.

Population‐specific frequencies for LRRK2 susceptibility variants in the genetic epidemiology of Parkinson's disease (GEO‐PD) consortium

D. Maraganore, D. Dickson, C. van Broeckhoven, 2013, Movement disorders : official journal of the Movement Disorder Society.

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

A. Puschmann, Clara Hellberg, Andreas Puschmann, 2019, Parkinsonism & related disorders.

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

A. Puschmann, Emil Ygland Rödström, 2021, npj Parkinson's Disease.

CHCHD2 and Parkinson's disease

D. Dickson, Z. Wszolek, E. Englund, 2015, The Lancet Neurology.

A family with parkinsonism, essential tremor, restless legs syndrome, and depression

M. Farrer, D. Dickson, Z. Wszolek, 2011, Neurology.

Co-occurrence of CLCN2-related leukoencephalopathy and SPG56

C. Nilsson, A. Puschmann, Wejdan Almasoudi, 2023, Clinical parkinsonism & related disorders.

Alpha‐synuclein repeat variants and survival in Parkinson's disease

D. Maraganore, A. Bentivoglio, R. Krüger, 2014, Movement disorders : official journal of the Movement Disorder Society.

Alpha-synuclein REP 1 variants and survival in Parkinson ’ s disease

Kari, D. Maraganore, R. Krüger, 2014 .

Serum Neurofilament Light Chain as a Marker of Progression in Parkinson’s Disease: Long-Term Observation and Implications of Clinical Subtypes

O. Hansson, S. Janelidze, A. Puschmann, 2021, Journal of Parkinson's disease.

Embracing Monogenic Parkinson's Disease: The MJFF Global Genetic PD Cohort

D. Arkadir, M. Farrer, E. Tolosa, 2023, Movement disorders : official journal of the Movement Disorder Society.

Synucleinopathies from bench to bedside.

W. Weiner, R. Bhidayasiri, A. Puschmann, 2012, Parkinsonism & related disorders.

Unverricht–Lundborg disease—A misnomer?

A. Puschmann, 2009, Movement disorders : official journal of the Movement Disorder Society.

Do variants in IRF2BPL cause both neurological disorders and keratoconus 8?

T. Säll, A. Puschmann, Efthymia Kafantari, 2020, Parkinsonism & related disorders.

GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

Timothy Lynch, Magdalena Boczarska-Jedynak, D. Serie, 2013, American journal of neurodegenerative disease.

Improving the likelihood of neurology patients being examined using patient feedback

A. Lindgren, D. Nicholl, A. Puschmann, 2015, BMJ quality improvement reports.

Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease Evidence From the COURAGE-PD Consortium

D. Hernandez, A. Singleton, P. May, 2022 .

Hereditary Parkinson's Disease of Unknown Genetic Cause in Two Families from Southern Sweden

M. Farrer, S. Lincoln, C. Nilsson, 2010 .

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

P. Svenningsson, O. Hansson, L. Forsgren, 2019, Parkinsonism & related disorders.

Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: a novel entity?

P. Bauer, L. Schöls, D. Westen, 2014, Parkinsonism & related disorders.

Patients' Perspective in Hereditary Ataxia.

A. Puschmann, S. Gorcenco, C. Karremo, 2022, Cerebellum.

Genome-wide Association and Meta-analysis of Age at Onset in Parkinson Disease Evidence From the COURAGE-PD Consortium

D. Hernandez, A. Singleton, P. May, 2022 .

Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case–control study

J. Ioannidis, M. Farrer, D. Maraganore, 2011, The Lancet Neurology.

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

Elisabeth L. Moussaud-Lamodière, R. Petersen, B. Boeve, 2015, Neurology.

Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations.

A. Puschmann, 2013, Parkinsonism & related disorders.

DNAJC13 p.Asn855Ser mutation screening in Parkinson's disease and pathologically confirmed Lewy body disease patients

T. Ferman, M. Barcikowska, R. Uitti, 2015, European journal of neurology.

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Z. Wszolek, M. LeDoux, Yu Zhao, 2013, Human molecular genetics.

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

M. Landqvist Waldö, A. Puschmann, Sorina Gorcenco, 2023, Journal of neurology.

Access to the Published Version May Require Journal Subscription. Published with Permission From: Thieme Medical Publications Ltd Diagnosis and Treatment of Common Forms of Tremor

A. Puschmann, Zbigniew K. Wszolek, Se, 2022 .

Cellular mechanisms of the no-induced inhibition in rat ileum: Involvement of intracellular Ca2+ stores

M. Storr, H. Allescher, A. Puschmann, 1995 .