Advanced Search
Display options
Filter resources
Text Availability
Article type
Publication date
Species
Language
Sex
Age
Showing 1 to 12 of 17 entries
Sorted by: Best Match Show Resources per page
A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations.

Translational neurodegeneration

Tang L, Dorst J, Chen L, Liu X, Ma Y, Günther K, Michels S, Müller K, Freischmidt A, Weishaupt JH, Fan D, Ludolph AC.
PMID: 34711284
Transl Neurodegener. 2021 Oct 28;10(1):42. doi: 10.1186/s40035-021-00266-x.

No abstract available.

De novo mutations in .

Journal of neurology, neurosurgery, and psychiatry

Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM.
PMID: 34518333
J Neurol Neurosurg Psychiatry. 2021 Sep 13; doi: 10.1136/jnnp-2021-327520. Epub 2021 Sep 13.

OBJECTIVE: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a number of genes found in familial cases but also in sporadic cases. De novo mutations occurring in a parental gonadal cell, in the zygote or...

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Nature genetics

van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hübner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH.
PMID: 34873335
Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 06.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and...

[Granulomatous skeletal lesions].

Der Radiologe

Freyschmidt J.
PMID: 34889972
Radiologe. 2021 Dec;61(12):1061-1067. doi: 10.1007/s00117-021-00938-9. Epub 2021 Dec 10.

The main granulomatous diseases of the musculoskeletal system are Langerhans cell histiocytosis, sarcoidosis, Erdheim-Chester disease (lipoidgranulomatosis) and mastocytosis. In most cases the patients have only a few symptoms, and the disease is detected coincidentally. The diagnosis is usually made...

Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.

Nature genetics

van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel M, Cichon S, Nöthen MM, Amouyel P, Traynor BJ, Singleton AB, Mitne Neto M, Cauchi RJ, Ophoff RA, Wiedau-Pazos M, Lomen-Hoerth C, van Deerlin VM, Grosskreutz J, Roediger A, Gaur N, Jörk A, Barthel T, Theele E, Ilse B, Stubendorff B, Witte OW, Steinbach R, Hübner CA, Graff C, Brylev L, Fominykh V, Demeshonok V, Ataulina A, Rogelj B, Koritnik B, Zidar J, Ravnik-Glavač M, Glavač D, Stević Z, Drory V, Povedano M, Blair IP, Kiernan MC, Benyamin B, Henderson RD, Furlong S, Mathers S, McCombe PA, Needham M, Ngo ST, Nicholson GA, Pamphlett R, Rowe DB, Steyn FJ, Williams KL, Mather KA, Sachdev PS, Henders AK, Wallace L, de Carvalho M, Pinto S, Petri S, Weber M, Rouleau GA, Silani V, Curtis CJ, Breen G, Glass JD, Brown RH, Landers JE, Shaw CE, Andersen PM, Groen EJN, van Es MA, Pasterkamp RJ, Fan D, Garton FC, McRae AF, Davey Smith G, Gaunt TR, Eberle MA, Mill J, McLaughlin RL, Hardiman O, Kenna KP, Wray NR, Tsai E, Runz H, Franke L, Al-Chalabi A, Van Damme P, van den Berg LH, Veldink JH.
PMID: 34873335
Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 06.

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk of one in 350 people and an unmet need for disease-modifying therapies. We conducted a cross-ancestry genome-wide association study (GWAS) including 29,612 patients with ALS and...

Sequential Combination Therapy Leading to Sustained Remission in a Patient with SAPHO Syndrome.

The open rheumatology journal

Huber CE, Judex AG, Freyschmidt J, Feuerbach S, Schölmerich J, Müller-Ladner U.
PMID: 19471601
Open Rheumatol J. 2009 Mar 27;3:18-21. doi: 10.2174/1874312900903010018.

The SAPHO syndrome represents a variety of clinically similar disorders with the key features of hyperostotic bone lesions in combination with chronic pustular skin disease. The respective pathophysiology of bone and joint manifestations in SAPHO syndrome is still a...

Haploinsufficiency of TANK-binding kinase 1 prepones age-associated neuroinflammatory changes without causing motor neuron degeneration in aged mice.

Brain communications

Bruno C, Sieverding K, Freischmidt A, Satoh T, Walther P, Mayer B, Ludolph AC, Akira S, Yilmazer-Hanke D, Danzer KM, Lobsiger CS, Brenner D, Weishaupt JH.
PMID: 33005894
Brain Commun. 2020 Aug 21;2(2):fcaa133. doi: 10.1093/braincomms/fcaa133. eCollection 2020.

Loss-of-function mutations in TANK-binding kinase 1 cause genetic amyotrophic lateral sclerosis and frontotemporal dementia. Consistent with incomplete penetrance in humans, haploinsufficiency of TANK-binding kinase 1 did not cause motor symptoms in mice up to 7 months of age in...

De novo mutations in .

Journal of neurology, neurosurgery, and psychiatry

Müller K, Oh KW, Nordin A, Panthi S, Kim SH, Nordin F, Freischmidt A, Ludolph AC, Ki CS, Forsberg K, Weishaupt J, Kim YE, Andersen PM.
PMID: 34518333
J Neurol Neurosurg Psychiatry. 2022 Feb;93(2):201-206. doi: 10.1136/jnnp-2021-327520. Epub 2021 Sep 13.

OBJECTIVE: The only identified cause of amyotrophic lateral sclerosis (ALS) are mutations in a number of genes found in familial cases but also in sporadic cases. De novo mutations occurring in a parental gonadal cell, in the zygote or...

Individualized Techniques of Implant Coating with an Antibiotic-Loaded, Hydroxyapatite/Calcium Sulphate Bone Graft Substitute.

Therapeutics and clinical risk management

Freischmidt H, Armbruster J, Reiter G, Grützner PA, Helbig L, Guehring T.
PMID: 32848402
Ther Clin Risk Manag. 2020 Jul 29;16:689-694. doi: 10.2147/TCRM.S242088. eCollection 2020.

BACKGROUND: The treatment of fracture- or non-union-related infections has persistently been a major challenge for both patients and treating surgeons. With rising aging of patients and increasing comorbidities, combined with the heterogeneity of germs and any number of multi-resistance...

[Alban Köhler (1874-1947). Assessment of a clinical radiology pioneer from the present-day viewpoint].

RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der Nuklearmedizin

Freyschmidt J.
PMID: 8547614
Rofo. 1995 Dec;163(6):463-8.

No abstract available.

A natural history comparison of SOD1-mutant patients with amyotrophic lateral sclerosis between Chinese and German populations.

Translational neurodegeneration

Tang L, Dorst J, Chen L, Liu X, Ma Y, Günther K, Michels S, Müller K, Freischmidt A, Weishaupt JH, Fan D, Ludolph AC.
PMID: 34711284
Transl Neurodegener. 2021 Oct 28;10(1):42. doi: 10.1186/s40035-021-00266-x.

No abstract available.

Commentary: Effects of ALS-associated TANK binding kinase 1 mutations on protein-protein interactions and kinase activity.

Frontiers in neuroscience

Freischmidt A, Brenner D, Ludolph AC, Andersen PM, Weishaupt JH.
PMID: 33013311
Front Neurosci. 2020 Sep 11;14:551006. doi: 10.3389/fnins.2020.551006. eCollection 2020.

No abstract available.

Showing 1 to 12 of 17 entries