The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report
- Standort
-
Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
-
1 Online-Ressource.
- Sprache
-
Englisch
- Erschienen in
-
The p.D417N variant of TUBB4A as a possible cause of hereditary spastic paraplegia: a case report ; volume:60 ; number:1 ; day:1 ; month:11 ; year:2024 ; pages:1-5 ; date:12.2024
The Egyptian journal of neurology, psychiatry and neurosurgery ; 60, Heft 1 (1.11.2024), 1-5, 12.2024
- Urheber
-
Matteoni, Enrico
Canosa, Antonio
Tessa, Alessandra
Natale, Gemma
Gallone, Salvatore
- Beteiligte Personen und Organisationen
-
SpringerLink (Online service)
- DOI
-
10.1186/s41983-024-00905-w
- URN
-
urn:nbn:de:101:1-2501212122199.644283470358
- Rechteinformation
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
-
15.08.2025, 07:24 MESZ
Datenpartner
Dieses Objekt wird bereitgestellt von:
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Deutsche Nationalbibliothek. Bei Fragen zum Objekt wenden Sie sich bitte an den Datenpartner.
Beteiligte
- Matteoni, Enrico
- Canosa, Antonio
- Tessa, Alessandra
- Natale, Gemma
- Gallone, Salvatore
- SpringerLink (Online service)
Ähnliche Objekte (12)
Translational research approaches in hereditary spastic paraplegia
Early-onset hereditary spastic paraplegia: case report
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Understanding disease modulators of SPG11‐linked hereditary spastic paraplegia.
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
The role of inflammation in hereditary spastic paraplegia type 11
Hereditary spastic paraplegia from 1880 to 2017: an historical review
Functional characterization of hereditary spastic paraplegia proteins spastin and ZFYVE27
Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review
Gene identification in Hereditary Spastic Paraplegias and characterization of Spastic Paraplegia type 58 (SPG58)
Translational research approaches in hereditary spastic paraplegia
Early-onset hereditary spastic paraplegia: case report
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Understanding disease modulators of SPG11‐linked hereditary spastic paraplegia.
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
The role of inflammation in hereditary spastic paraplegia type 11
Hereditary spastic paraplegia from 1880 to 2017: an historical review
Functional characterization of hereditary spastic paraplegia proteins spastin and ZFYVE27
Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review
Gene identification in Hereditary Spastic Paraplegias and characterization of Spastic Paraplegia type 58 (SPG58)
Translational research approaches in hereditary spastic paraplegia
Early-onset hereditary spastic paraplegia: case report
Neurometabolic Dysfunction in SPG11 Hereditary Spastic Paraplegia
Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia
Understanding disease modulators of SPG11‐linked hereditary spastic paraplegia.
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant
Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients
The role of inflammation in hereditary spastic paraplegia type 11
Hereditary spastic paraplegia from 1880 to 2017: an historical review
Functional characterization of hereditary spastic paraplegia proteins spastin and ZFYVE27
Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review