Martin Smitka

Dresden, SN, Germany

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 39 publications

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Phenotypic intrafamilial variability of 5q-associated spinal muscular atrophy: A systematic multicentre sibling study.

Journal: Journal of neuromuscular diseases
Published: September 12, 2025

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.

Journal: JAMA pediatrics
Published: April 08, 2024

Olfactory function after mild traumatic brain injury in children-a longitudinal case control study.

Olfactory function after mild traumatic brain injury in children-a longitudinal case control study.

Journal: Cerebral cortex (New York, N.Y. : 1991)
Published: January 16, 2024

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.

Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort.

Journal: Journal of neuromuscular diseases
Published: December 03, 2023

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.

5qSMA: standardised retrospective natural history assessment in 268 patients with four copies of SMN2.

Journal: Journal of neurology
Published: October 30, 2023

Enterovirus A71-associated acute flaccid paralysis in a pediatric patient: a case report.

Enterovirus A71-associated acute flaccid paralysis in a pediatric patient: a case report.

Journal: Journal of medical case reports
Published: March 14, 2023

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.

Journal: Journal of neuromuscular diseases
Published: December 24, 2022

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders.

Journal: Brain : a journal of neurology
Published: August 26, 2022

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.

Journal: Orphanet journal of rare diseases
Published: June 23, 2022

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Journal: Brain : a journal of neurology
Published: February 23, 2022

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Clinical and Genetic Aspects of Juvenile Onset Pompe Disease.

Journal: Neuropediatrics
Published: December 01, 2021

Diagnosis and Treatment of Small Vessel Childhood Primary Angiitis of the Central Nervous System (sv-cPACNS): An International Survey.

Diagnosis and Treatment of Small Vessel Childhood Primary Angiitis of the Central Nervous System (sv-cPACNS): An International Survey.

Journal: Frontiers in pediatrics
Published: August 10, 2021
Showing 1-12 of 39

Last Updated: 09/26/2026