Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 765

1.

Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI study.

Mercuri E, Messina S, Kinali M, Cini C, Longman C, Battini R, Cioni G, Muntoni F.

Neuromuscul Disord. 2004 Feb;14(2):125-9.

PMID:
14733958
2.

A clinical, magnetic resonance imaging, and survival motor neuron gene deletion study of Hirayama disease.

Misra UK, Kalita J, Mishra VN, Kesari A, Mittal B.

Arch Neurol. 2005 Jan;62(1):120-3.

PMID:
15642858
3.

Calpainopathy: how broad is the spectrum of clinical variability?

Starling A, de Paula F, Silva H, Vainzof M, Zatz M.

J Mol Neurosci. 2003;21(3):233-6.

PMID:
14645990
4.

[A case of spinal muscular atrophy with marked calf hypertrophy and adolescent onset].

Hattori N, Nishigaki T, Inui K, Kaido M, Nishimura T, Hazama T, Nakata T.

Rinsho Shinkeigaku. 2000 Feb;40(2):170-3. Japanese.

PMID:
10835940
5.

[Diagnostic difficulties in spinal muscular atrophy].

Araújo AP, Ramos VG, Cabello PH.

Arq Neuropsiquiatr. 2005 Mar;63(1):145-9. Epub 2005 Apr 13. Portuguese.

6.

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23-q24.

van der Vleuten AJ, van Ravenswaaij-Arts CM, Frijns CJ, Smits AP, Hageman G, Padberg GW, Kremer H.

Eur J Hum Genet. 1998 Jul-Aug;6(4):376-82.

7.

A new dominant distal myopathy affecting posterior leg and anterior upper limb muscles.

Williams DR, Reardon K, Roberts L, Dennet X, Duff R, Laing NG, Byrne E.

Neurology. 2005 Apr 12;64(7):1245-54.

PMID:
15824355
8.

A clinical and genetic study of spinal muscular atrophy.

Mishra VN, Kalita J, Kesari A, Mitta B, Shankar SK, Misra UK.

Electromyogr Clin Neurophysiol. 2004 Jul-Aug;44(5):307-12.

PMID:
15378871
9.

Charcot-Marie-Tooth disease type 1A duplication: spectrum of clinical and magnetic resonance imaging features in leg and foot muscles.

Gallardo E, García A, Combarros O, Berciano J.

Brain. 2006 Feb;129(Pt 2):426-37. Epub 2005 Nov 29.

10.

Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.

Viollet L, Barois A, Rebeiz JG, Rifai Z, Burlet P, Zarhrate M, Vial E, Dessainte M, Estournet B, Kleinknecht B, Pearn J, Adams RD, Urtizberea JA, Cros DP, Bushby K, Munnich A, Lefebvre S.

Ann Neurol. 2002 May;51(5):585-92.

PMID:
12112104
11.

Transmission ratio distortion in the spinal muscular atrophy locus: data from 314 prenatal tests.

Botta A, Tacconelli A, Bagni I, Giardina E, Bonifazi E, Pietropolli A, Clementi M, Novelli G.

Neurology. 2005 Nov 22;65(10):1631-5.

PMID:
16301493
12.

Spinal muscular atrophy: clinical classification and disease heterogeneity.

Russman BS.

J Child Neurol. 2007 Aug;22(8):946-51. Review.

PMID:
17761648
13.

Autosomal dominant congenital spinal muscular atrophy--a possible developmental deficiency of motor neurones?

Reddel S, Ouvrier RA, Nicholson G, Dierick I, Irobi J, Timmerman V, Ryan MM.

Neuromuscul Disord. 2008 Jul;18(7):530-5. doi: 10.1016/j.nmd.2008.04.016. Epub 2008 Jun 24. Review.

PMID:
18579380
14.

Correlation between deletion patterns of SMN and NAIP genes and the clinical features of spinal muscular atrophy in Indian patients.

Dastur RS, Gaitonde PS, Khadilkar SV, Udani VP, Nadkarni JJ.

Neurol India. 2006 Sep;54(3):255-9.

15.

[An autopsy case with lower motor neuron disease showing a transient-appearance of anti-GM1 antibody and an improvement of conduction block after gamma-globulin administration].

Kikuchi H, Kawano Y, Dohura K, Kawamura T, Taniwaki T, Yamada T, Kato M, Iwaki T, Kira J.

No To Shinkei. 1999 May;51(5):455-64. Japanese.

PMID:
10396755
16.

Congenital autosomal dominant distal spinal muscular atrophy.

Adams C, Suchowersky O, Lowry RB.

Neuromuscul Disord. 1998 Aug;8(6):405-8. Review.

PMID:
9713859
17.

[Proximal autosomal recessive types of spinal muscular atrophy].

Kolokolov OV, Iudina GK, Solovykh NN, Evgrafov OV.

Zh Nevrol Psikhiatr Im S S Korsakova. 2003;103(8):66-8. Russian.

PMID:
14564781
18.

Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype.

Berciano J, Gallardo E, Domínguez-Perles R, Gallardo E, García A, García-Barredo R, Combarros O, Infante J, Illa I.

J Neurol Neurosurg Psychiatry. 2008 Feb;79(2):205-8. Epub 2007 Aug 13.

PMID:
17698502
19.

A long-term prospective study of the natural course of sporadic adult-onset lower motor neuron syndromes.

Van den Berg-Vos RM, Visser J, Kalmijn S, Fischer K, de Visser M, de Jong V, de Haan RJ, Franssen H, Wokke JH, Van den Berg LH.

Arch Neurol. 2009 Jun;66(6):751-7. doi: 10.1001/archneurol.2009.91.

PMID:
19506135
20.

[Genetically confirmed spinal muscular atrophy type III with epilepsy, cerebral hypoperfusion, and parahippocampal gyrus atrophy].

Higashi K, Nakagawa M, Higuchi I, Saito K, Osame M.

Rinsho Shinkeigaku. 2000 Apr;40(4):334-8. Japanese.

PMID:
10967649
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk