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 NCBI Filters

Text availability

Article attribute

Article type

Publication date

Search Results

199 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
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
Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
Fonknechten N, Mavel D, Byrne P, Davoine CS, Cruaud C, Bönsch D, Samson D, Coutinho P, Hutchinson M, McMonagle P, Burgunder JM, Tartaglione A, Heinzlef O, Feki I, Deufel T, Parfrey N, Brice A, Fontaine B, Prud'homme JF, Weissenbach J, Dürr A, Hazan J. Fonknechten N, et al. Among authors: burgunder jm. Hum Mol Genet. 2000 Mar 1;9(4):637-44. doi: 10.1093/hmg/9.4.637. Hum Mol Genet. 2000. PMID: 10699187
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
Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins.
Richard I, Brenguier L, Dinçer P, Roudaut C, Bady B, Burgunder JM, Chemaly R, Garcia CA, Halaby G, Jackson CE, Kurnit DM, Lefranc G, Legum C, Loiselet J, Merlini L, Nivelon-Chevallier A, Ollagnon-Roman E, Restagno G, Topaloglu H, Beckmann JS. Richard I, et al. Among authors: burgunder jm. Am J Hum Genet. 1997 May;60(5):1128-38. Am J Hum Genet. 1997. PMID: 9150160 Free PMC article.
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/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
[Quadriceps myopathy as dystrophin-associated myopathy].
von Mitzlaff HC, Liechti-Gallati S, Rösler KM, Burgunder JM. von Mitzlaff HC, et al. Among authors: burgunder jm. Schweiz Med Wochenschr. 1993 Oct 9;123(40):1865-9. Schweiz Med Wochenschr. 1993. PMID: 8211039 Review. German.
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
199 results