Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

202 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Publication Date timeline is not available.
Page 1
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
Gasser T, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Harbo HF; EFNS. Gasser T, et al. Among authors: burgunder jm. Eur J Neurol. 2010 Feb;17(2):179-88. doi: 10.1111/j.1468-1331.2009.02873.x. Epub 2009 Dec 28. Eur J Neurol. 2010. PMID: 20050888
EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias.
Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen C, Zeviani M, Burgunder JM, Gasser T; EFNS. Harbo HF, et al. Among authors: burgunder jm. Eur J Neurol. 2009 Jul;16(7):777-85. doi: 10.1111/j.1468-1331.2009.02646.x. Epub 2009 May 12. Eur J Neurol. 2009. PMID: 19469830
EFNS guidelines on the molecular diagnosis of mitochondrial disorders.
Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schöls L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T; European Federation of Neurological Sciences. Finsterer J, et al. Among authors: burgunder jm. Eur J Neurol. 2009 Dec;16(12):1255-64. doi: 10.1111/j.1468-1331.2009.02811.x. Eur J Neurol. 2009. PMID: 19950421
EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.
Burgunder JM, Finsterer J, Szolnoki Z, Fontaine B, Baets J, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Schöls L, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Gasser T; EFNS. Burgunder JM, et al. Eur J Neurol. 2010 May;17(5):641-8. doi: 10.1111/j.1468-1331.2010.02985.x. Epub 2010 Mar 9. Eur J Neurol. 2010. PMID: 20298421
EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.
Burgunder JM, Schöls L, Baets J, Andersen P, Gasser T, Szolnoki Z, Fontaine B, Van Broeckhoven C, Di Donato S, De Jonghe P, Lynch T, Mariotti C, Spinazzola A, Tabrizi SJ, Tallaksen C, Zeviani M, Harbo HF, Finsterer J. Burgunder JM, et al. Eur J Neurol. 2011 Feb;18(2):207-217. doi: 10.1111/j.1468-1331.2010.03069.x. Eur J Neurol. 2011. PMID: 20500522
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
van de Warrenburg BP, van Gaalen J, Boesch S, Burgunder JM, Dürr A, Giunti P, Klockgether T, Mariotti C, Pandolfo M, Riess O. van de Warrenburg BP, et al. Among authors: burgunder jm. Eur J Neurol. 2014 Apr;21(4):552-62. doi: 10.1111/ene.12341. Epub 2014 Jan 13. Eur J Neurol. 2014. PMID: 24418350
Phenotype of autosomal dominant spastic paraplegia linked to chromosome 2.
Dürr A, Davoine CS, Paternotte C, von Fellenberg J, Cogilinicean S, Coutinho P, Lamy C, Bourgeois S, Prud'homme JF, Penet C, Mas JL, Burgunder JM, Hazan J, Weissenbach J, Brice A, Fontaine B. Dürr A, et al. Among authors: burgunder jm. Brain. 1996 Oct;119 ( Pt 5):1487-96. doi: 10.1093/brain/119.5.1487. Brain. 1996. PMID: 8931574
Discrepancies in reporting the CAG repeat lengths for Huntington's disease.
Quarrell OW, Handley O, O'Donovan K, Dumoulin C, Ramos-Arroyo M, Biunno I, Bauer P, Kline M, Landwehrmeyer GB; European Huntington’s Disease Network. Quarrell OW, et al. Eur J Hum Genet. 2012 Jan;20(1):20-6. doi: 10.1038/ejhg.2011.136. Epub 2011 Aug 3. Eur J Hum Genet. 2012. PMID: 21811303 Free PMC article.
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY.
Orth M; European Huntington's Disease Network; Handley OJ, Schwenke C, Dunnett S, Wild EJ, Tabrizi SJ, Landwehrmeyer GB. Orth M, et al. J Neurol Neurosurg Psychiatry. 2011 Dec;82(12):1409-12. doi: 10.1136/jnnp.2010.209668. Epub 2010 Nov 19. J Neurol Neurosurg Psychiatry. 2011. PMID: 21097549 No abstract available.
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
Hazan J, Fonknechten N, Mavel D, Paternotte C, Samson D, Artiguenave F, Davoine CS, Cruaud C, Dürr A, Wincker P, Brottier P, Cattolico L, Barbe V, Burgunder JM, Prud'homme JF, Brice A, Fontaine B, Heilig B, Weissenbach J. Hazan J, et al. Among authors: burgunder jm. Nat Genet. 1999 Nov;23(3):296-303. doi: 10.1038/15472. Nat Genet. 1999. PMID: 10610178
202 results